Research Highlights
Identifying novel chronotype loci
Our sleep timing preference, or chronotype, is a manifestation of our internal biological clock. Variation in chronotype (eveningness, morningness, etc) has been linked to sleep disorders, cognitive and physical performance, and chronic disease.
In this study we performed a genome-wide association study of self-reported chronotype in 100,420 individuals, and our results identify 12 new genetic loci relevant to the circadian clock. The discovered loci also affect central nervous system, ocular systems, and fear-response processes. Using a technique called Mendelian randomization, we additionally show that evening chronotype relates to higher educational attainment. These data motivate our study of the causal links between circadian genetics and life-history outcomes, like educational attainment.
Type 2 diabetes risk and a mutant melatonin receptor
The risk of developing type 2 diabetes (T2D) is increased by poor sleep hygiene, circadian misalignment, and melatonin dysregulation. A common genetic variant in a melatonin receptor (MTNR1B) is associated with increased fasting blood glucose and risk of T2D.
We sought to test if the identified MTNR1B risk allele altered sleep, and used actigraphy, polysomnography, and other intensive measures of sleep to do so. Our results provided the insight that the MTNR1B risk allele influences the timing of melatonin secretion, theoretically by extending the duration of melatonin secretion later into the morning. Further research seeks to find out if early waking magnifies the diabetes risk conferred by the risk allele.
Linking dopamine receptor variants to sleep duration
Sleep duration is implicated in the etiologies of chronic diseases and premature mortality. However, the genetic basis for sleep duration is poorly defined.
Validating a pre-eclampsia risk allele in multiple populations
Pre-eclampsia is a pregnancy disorder characterized by high levels of protein in the urine, hypertension, liver and kidney dysfunction, and significant maternal and fetal morbidity.
We sought to identify novel genetic components influencing sleep duration in a multi-ethnic sample. We conducted meta-analyses on 25,000 individuals of African, Asian, European, and Hispanic American ancestry. After genotyping and analyzing ∼50,000 SNPs from heart, lung, blood and sleep genes, we found the dopamine receptor DRD2 to be significantly associated with sleep duration. After controlling for this effect, we identified a second DRD2 signal with an opposite effect on sleep duration. Our work motivates future research on wakefulness agents (caffeine, modafinil, etc) that influence the dopamine pathway.
To identify maternal genes associated with pre-eclampsia risk, we assembled 498 cases and 1864 controls of European ancestry and genotyped the samples on a cardiovascular gene array. Nine lead signals were identified, and we then performed genetic analyses in samples of black, Hispanic, and East Asian ancestry, which revealed a significant association of a variant in the PLEKHG1 gene. PLEKHG1 variants have previously been implicated in studies of blood pressure, body weight, and neurological disorders. This study identifies a novel maternal risk locus, and we seek to further define maternal pre-eclampsia heritability with larger studies.
Publications
For a full list of publications, please refer to Dr. Saxena's NCBI collections page here.
2018 and in press
Wray, N.R., et al., Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nat Genet, 2018. 50(5): p. 668-681.
Vetter, C., et al., Night Shift Work, Genetic Risk, and Type 2 Diabetes in the UK Biobank. Diabetes Care, 2018. 41(4): p. 762-769.
Vera, B., et al., Modifiable lifestyle behaviors, but not a genetic risk score, associate with metabolic syndrome in evening chronotypes. Sci Rep, 2018. 8(1): p. 945.
Smith, C.E., et al., Genome-Wide Interactions with Dairy Intake for Body Mass Index in Adults of European Descent. Mol Nutr Food Res, 2018. 62(3).
Prasad, B., et al., Genetic Ancestry for Sleep Research: Leveraging Health Inequalities to Identify Causal Genetic Variants. Chest, 2018. 153(6): p. 1478-1496.
Panchaud, A., et al., Anticonvulsants and the risk of perinatal bleeding complications: A pregnancy cohort study. Neurology, 2018. 91(6): p. e533-e542.
Mukherjee, S., R. Saxena, and L.J. Palmer, The genetics of obstructive sleep apnoea. Respirology, 2018. 23(1): p. 18-27.
Merino, J., et al., Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium. Mol Psychiatry, 2018.
McKeown, N.M., et al., Sugar-sweetened beverage intake associations with fasting glucose and insulin concentrations are not modified by selected genetic variants in a ChREBP-FGF21 pathway: a meta-analysis. Diabetologia, 2018. 61(2): p. 317-330.
Lopez-Minguez, J., et al., Late dinner impairs glucose tolerance in MTNR1B risk allele carriers: A randomized, cross-over study. Clin Nutr, 2018. 37(4): p. 1133-1140.
Lopez-Minguez, J., et al., Heritability of the timing of food intake. Clin Nutr, 2018.
Hong, J., et al., Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations. J Clin Endocrinol Metab, 2018. 103(4): p. 1380-1392.
Guasch-Ferre, M., H.S. Dashti, and J. Merino, Nutritional Genomics and Direct-to-Consumer Genetic Testing: An Overview. Adv Nutr, 2018. 9(2): p. 128-135.
Gray, K.J. and L.E. Wilkins-Haug, Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening. Pediatr Radiol, 2018. 48(4): p. 461-470.
Gray, K.J., R. Saxena, and S.A. Karumanchi, Genetic predisposition to preeclampsia is conferred by fetal DNA variants near FLT1, a gene involved in the regulation of angiogenesis. Am J Obstet Gynecol, 2018. 218(2): p. 211-218.
Gray, K.J., et al., Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1. Hypertension, 2018. 72(2): p. 408-416.
Grant, L.K., et al., Impaired cognitive flexibility during sleep deprivation among carriers of the Brain Derived Neurotrophic Factor (BDNF) Val66Met allele. Behav Brain Res, 2018. 338: p. 51-55.
Goncalves, V.F., et al., Examining the role of common and rare mitochondrial variants in schizophrenia. PLoS One, 2018. 13(1): p. e0191153.
Chen, H., et al., Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. Am J Respir Cell Mol Biol, 2018. 58(3): p. 391-401.
2017
Yousri, N.A., et al., Large Scale Metabolic Profiling identifies Novel Steroids linked to Rheumatoid Arthritis. Sci Rep, 2017. 7(1): p. 9137.
Spracklen, C.N., et al., Genetic predisposition to elevated levels of C-reactive protein is associated with a decreased risk for preeclampsia. Hypertens Pregnancy, 2017. 36(1): p. 30-35.
Sofer, T., et al., Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos. Sci Rep, 2017. 7(1): p. 10348.
Saxena, R., et al., A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis. Arthritis Rheumatol, 2017. 69(5): p. 976-985.
Pau, C.T., et al., Phenotype and Tissue Expression as a Function of Genetic Risk in Polycystic Ovary Syndrome. PLoS One, 2017. 12(1): p. e0168870.
Mozaffarian, D., et al., Genome-wide association meta-analysis of fish and EPA+DHA consumption in 17 US and European cohorts. PLoS One, 2017. 12(12): p. e0186456.
Mercader, J.M., et al., A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. Diabetes, 2017. 66(11): p. 2903-2914.
Liang, J., et al., Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. PLoS Genet, 2017. 13(5): p. e1006728.
Lane, J.M., et al., Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. Nat Genet, 2017. 49(2): p. 274-281.
Kyle, S.D., et al., Sleep and cognitive performance: cross-sectional associations in the UK Biobank. Sleep Med, 2017. 38: p. 85-91.
Kelly, R.S., et al., Integration of metabolomic and transcriptomic networks in pregnant women reveals biological pathways and predictive signatures associated with preeclampsia. Metabolomics, 2017. 13(1).
Johnson, D.A., et al., Greater Cognitive Deficits with Sleep-disordered Breathing among Individuals with Genetic Susceptibility to Alzheimer Disease. The Multi-Ethnic Study of Atherosclerosis. Ann Am Thorac Soc, 2017. 14(11): p. 1697-1705.
Haslam, D.E., et al., Interactions between Genetics and Sugar-Sweetened Beverage Consumption on Health Outcomes: A Review of Gene-Diet Interaction Studies. Front Endocrinol (Lausanne), 2017. 8: p. 368.
Gansner, J.M., et al., Pregnancy outcomes in inherited bone marrow failure syndromes. Blood, 2017. 130(14): p. 1671-1674.
Dashti, H.S. and K.M. Mogensen, Recommending Small, Frequent Meals in the Clinical Care of Adults: A Review of the Evidence and Important Considerations. Nutr Clin Pract, 2017. 32(3): p. 365-377.
Dashti, H.S., et al., Erratum. Gene-Environment Interactions of Circadian-Related Genes for Cardiometabolic Traits. Diabetes Care 2015;38:1456-1466. Diabetes Care, 2017. 40(10): p. 1420.
Cohen, J.M., et al., Placental Complications Associated With Psychostimulant Use in Pregnancy. Obstet Gynecol, 2017. 130(6): p. 1192-1201.
Cain, S.W., et al., Circadian Rhythms in Plasma Brain-derived Neurotrophic Factor Differ in Men and Women. J Biol Rhythms, 2017. 32(1): p. 75-82.
2016
Zheng, J.S., et al., Nutritional Biomarkers, Gene-Diet Interaction, and Risk Factors for Type 2 Diabetes. J Diabetes Res, 2016. 2016: p. 8610501.
Wang, H., et al., Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. Hum Mol Genet, 2016. 25(23): p. 5244-5253.
Smith, C.E., et al., Associations of the MCM6-rs3754686 proxy for milk intake in Mediterranean and American populations with cardiovascular biomarkers, disease and mortality: Mendelian randomization. Sci Rep, 2016. 6: p. 33188.
Shrivastava, A., T. Srivastava, and R. Saxena, CT Angiographic Evaluation of Pattern and Distribution of Stenosis and its Association with Risk Factors Among Indian Ischemic Stroke Patients. Pol J Radiol, 2016. 81: p. 357-362.
Scott, W.R., et al., Investigation of Genetic Variation Underlying Central Obesity amongst South Asians. PLoS One, 2016. 11(5): p. e0155478.
Sapkota, B.R., et al., Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study. J Steroid Biochem Mol Biol, 2016. 158: p. 149-156.
Liang, J., et al., Comparison of Heritability Estimation and Linkage Analysis for Multiple Traits Using Principal Component Analyses. Genet Epidemiol, 2016. 40(3): p. 222-32.
Lane, J.M., et al., Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank. Nat Commun, 2016. 7: p. 10889.
Lamont, R.E., et al., Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet, 2016. 24(10): p. 1436-44.
Kocevska, D., et al., Macronutrient Intakes in Infancy Are Associated with Sleep Duration in Toddlerhood. J Nutr, 2016. 146(6): p. 1250-6.
Giorgi, E.E., et al., No Association between the Mitochondrial Genome and Prostate Cancer Risk: The Multiethnic Cohort. Cancer Epidemiol Biomarkers Prev, 2016. 25(6): p. 1001-3.
Eichler, F.S., et al., CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain, 2016. 139(Pt 6): p. 1666-72.
Dashti, H.S., et al., Actigraphic sleep fragmentation, efficiency and duration associate with dietary intake in the Rotterdam Study. J Sleep Res, 2016. 25(4): p. 404-11.
Dashti, H.S., et al., Clock Genes Explain a Large Proportion of Phenotypic Variance in Systolic Blood Pressure and This Control Is Not Modified by Environmental Temperature. Am J Hypertens, 2016. 29(1): p. 132-40.
Chang, A.M., et al., Circadian gene variants influence sleep and the sleep electroencephalogram in humans. Chronobiol Int, 2016. 33(5): p. 561-73.
Cade, B.E., et al., Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. Am J Respir Crit Care Med, 2016. 194(7): p. 886-897.
Bjonnes, A.C., R. Saxena, and C.K. Welt, Relationship between polycystic ovary syndrome and ancestry in European Americans. Fertil Steril, 2016. 106(7): p. 1772-1777.
Lane JM, Chang AM, Bjonnes AC, Aeschbach D, Anderson C, Saxena R, et al. Impact of common diabetes risk variant in MTNR1B on sleep, circadian and melatonin physiology. Diabetes. 2016; PMID: 26868293
Imamura M, Takahashi A, Yamauchi T, Hara K, Yasuda K, Grarup N, Zhao W, Wang X, Huerta-Chagoya A, Hu C, Moon S, Long J, Kwak SH, Rasheed A, Saxena R, et al. Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. Nature communications. 2016; 7:10531. PMID: 26818947
Smith CJ, Saftlas AF, Spracklen CN, Triche EW, Bjonnes A, Keating B, Saxena R, et al. Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia. American journal of hypertension. 2016; 29(1):17-24. PMID: 26002928, PMCID: PMC4692983
Cade BE, Gottlieb DJ, Lauderdale DS, Bennett DA, Buchman AS, Saxena R, et al. Common variants in DRD2 are associated with sleep duration: the CARe consortium. Human molecular genetics. 2016; 25(1):167-79. PMID: 26464489, PMCID: PMC4690488
2015
Sapkota BR, Hopkins R, Bjonnes A, Ralhan S, Wander GS, Mehra NK, Singh JR, Blackett PR, Saxena R, et al. Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study. The Journal of steroid biochemistry and molecular biology. 2015; PMID: 26704534
Garaulet M, Gómez-Abellán P, Rubio-Sastre P, Madrid JA, Saxena R, et al. Common type 2 diabetes risk variant in MTNR1B worsens the deleterious effect of
melatonin on glucose tolerance in humans. Metabolism: clinical and experimental. 2015; 64(12):1650-7. PMID: 26440713
Arble DM, Bass J, Behn CD, Butler MP, Challet E, Czeisler C, Depner CM, Elmquist J, Franken P, Grandner MA, Hanlon EC, Keene AC, Joyner MJ, Karatsoreos
I, Kern PA, Klein S, Morris CJ, Pack AI, Panda S, Ptacek LJ, Punjabi NM, Sassone-Corsi P, Scheer FA, Saxena R et al. Impact of Sleep and Circadian Disruption on Energy Balance and Diabetes: A Summary of Workshop Discussions. Sleep. 2015; 38(12):1849-60. PMID: 26564131, PMCID: PMC4667373
Kato N, Loh M, Takeuchi F, Verweij N, Wang X, Zhang W, Kelly TN, Saleheen D, Lehne B, Mateo Leach I, Drong AW, Abbott J, Wahl S, Tan ST, Scott WR, Campanella G, Chadeau-Hyam M, Afzal U, Ahluwalia TS, Bonder MJ, Chen P, Dehghan A, Edwards TL, Esko T, Go MJ, Harris SE, Hartiala J, Kasela S, Kasturiratne A, Khor CC, Kleber ME, Li H, Mok ZY, Nakatochi M, Sapari NS, Saxena R, et al. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. Nature genetics. 2015; 47(11):1282-93. NIHMSID: EMS66668 PMID: 26390057, PMCID: PMC4719169
Nikpay M, Goel A, Won HH, Hall LM, Willenborg C, Kanoni S, Saleheen D, Kyriakou T, Nelson CP, Hopewell JC, Webb TR, Zeng L, Dehghan A, Alver M, Armasu SM, Auro K, Bjonnes A, Chasman DI, Chen S, Ford I, Franceschini N, Gieger C, Grace C, Gustafsson S, Huang J, Hwang SJ, Kim YK, Kleber ME, Lau KW, Lu X, Lu Y, Lyytikäinen LP, Mihailov E, Morrison AC, Pervjakova N, Qu L, Rose LM, Salfati E, Saxena R, et al. A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nature genetics. 2015; 47(10):1121-30. NIHMSID: EMS64693 PMID: 26343387, PMCID: PMC4589895
Day FR, Hinds DA, Tung JY, Stolk L, Styrkarsdottir U, Saxena R, et al. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nature communications. 2015; 6:8464. PMID: 26416764, PMCID: PMC4598835
Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Saxena R, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 2015;
523(7561):459-62. NIHMSID: EMS63641 PMID: 26131930, PMCID: PMC4516141
Saxena R, Bjonnes AC, Georgopoulos NA, Koika V, Panidis D, et al. Gene variants associated with age at menopause are also associated with polycystic ovary
syndrome, gonadotrophins and ovarian volume. Human reproduction (Oxford, England). 2015; 30(7):1697-703. PMID: 25994816, PMCID: PMC4472323
Spracklen CN, Saftlas AF, Triche EW, Bjonnes A, Keating B, Saxena R, et al. Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia. American journal of
hypertension. 2015; 28(7):915-23. PMID: 25523295, PMCID: PMC4542907
Saxena R, Georgopoulos NA, Braaten TJ, Bjonnes AC, Koika V, et al. Han Chinese polycystic ovary syndrome risk variants in women of European ancestry:
relationship to FSH levels and glucose tolerance. Human reproduction (Oxford, England). 2015; 30(6):1454-9. PMID: 25904635, PMCID: PMC4498224
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Saxena R, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 2015;
518(7538):197-206. NIHMSID: NIHMS668049 PMID: 25673413, PMCID: PMC4382211
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Saxena R, et al. New genetic loci link adipose and insulin biology to body fat distribution. Nature.
2015; 518(7538):187-96. NIHMSID: EMS61357 PMID: 25673412, PMCID: PMC4338562
Dashti HS, Follis JL, Smith CE, Tanaka T, Cade BE, Gottlieb DJ, Hruby A, Jacques PF, Lamon-Fava S, Richardson K, Saxena R, et al. Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants. The American journal of clinical nutrition. 2015; 101(1):135-43. PMID: 25527757, PMCID: PMC4266883
Li Y, Beckman KB, Caberto C, Kazma R, Lum-Jones A, Haiman CA, Le Marchand L, Stram DO, Saxena R, Cheng I. Association of Genes, Pathways, and Haplogroups of the Mitochondrial Genome with the Risk of Colorectal Cancer: The Multiethnic Cohort. PloS one. 2015; 10(9):e0136796. PMID: 26340450, PMCID: PMC4560485
2014
Ng MC, Shriner D, Chen BH, Li J, Chen WM, Saxena R, et al. Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic
architecture of type 2 diabetes. PLoS genetics. 2014; PMID: 25102180, PMCID: PMC4125087
Saxena R, Bjonnes A, Prescott J, Dib P, Natt P, et al. Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with
leukocyte telomere length in a Punjabi Sikh diabetic cohort. Circulation. Cardiovascular genetics. 2014; 7(3):287-95. NIHMSID: NIHMS595180 PMID: 24795349, PMCID: PMC4106467
Tare A, Lane JM, Cade BE, Grant SF, Chen TH, Saxena R, et al. Sleep duration does not mediate or modify association of common genetic variants with type 2 diabetes. Diabetologia. 2014; 57(2):339-46. NIHMSID: NIHMS544771 PMID: 24280871, PMCID: PMC4006271
Claussnitzer M, Dankel SN, Klocke B, Grallert H, Glunk V, Saxena R, et al. Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci
to disease mechanisms. Cell. 2014; 156(1-2):343-58. PMID: 24439387
Hara K, Fujita H, Johnson TA, Yamauchi T, Yasuda K, Saxena R, et al. Genome-wide association study identifies three novel loci for type 2 diabetes. Human
molecular genetics. 2014; 23(1):239-46. PMID: 23945395
Okada Y, Diogo D, Greenberg JD, Mouassess F, Achkar WA, Fulton RS, Denny JC, Gupta N, Mirel D, Gabriel S, Li G, Kremer JM, Pappas DA, Carroll RJ, Eyler AE, Trynka G, Stahl EA, Cui J, Saxena R, et al. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PloS one. 2014; 9(2):e87645. PMID: 24520335, PMCID: PMC3919745
2013
Lane JM, Tare A, Cade BE, Chen TH, Punjabi NM, Saxena R, et al. Common variants in CLOCK are not associated with measures of sleep duration in people of european ancestry from the sleep heart health study. Biological psychiatry. 2013; 74(12):e33-5. NIHMSID: NIHMS619791 PMID: 23871470, PMCID: PMC4157567
Prudente S, Copetti M, Morini E, Mendonca C, Andreozzi F, Saxena R, et al. The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry. Nutrition, metabolism, and cardiovascular diseases : NMCD. 2013; 23(11):1043-9. PMID:
24103803
Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Saxena R, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nature genetics. 2013; 45(11):1345-52. NIHMSID: NIHMS524704 PMID: 24097064, PMCID: PMC3904346
Meyer MJ, Stanislaus AB, Lee J, Waak K, Ryan C, Saxena R, et al. Surgical Intensive Care Unit Optimal Mobilisation Score (SOMS) trial: a protocol for an international,
multicentre, randomised controlled trial focused on goal-directed early mobilisation of surgical ICU patients. BMJ open. 2013; 3(8):e003262. PMID: 23959756, PMCID: PMC3753523
Saxena R, Welt CK. Polycystic ovary syndrome is not associated with genetic variants that mark risk of type 2 diabetes. Acta diabetologica. 2013;
50(3):451-7. NIHMSID: NIHMS448539 PMID: 22389004, PMCID: PMC3679224
Pau C, Saxena R, Welt CK. Evaluating reported candidate gene associations with polycystic ovary syndrome. Fertility and sterility. 2013; 99(6):1774-8. NIHMSID:
NIHMS448637 PMID: 23375202, PMCID: PMC3722586
Saxena R, Saleheen D, Been LF, Garavito ML, Braun T, et al. Genome-wide association study identifies a novel locus contributing to type 2 diabetes
susceptibility in Sikhs of Punjabi origin from India. Diabetes. 2013; 62(5):1746-55. PMID: 23300278, PMCID: PMC3636649
Tabassum R, Chauhan G, Dwivedi OP, Mahajan A, Jaiswal A, Saxena R, et al. Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. Diabetes. 2013; 62(3):977-86. PMID: 23209189, PMCID: PMC3581193
Anderson CD, Biffi A, Nalls MA, Devan WJ, Schwab K, Ayres AM, Valant V, Ross OA, Rost NS, Saxena R, et al. Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage. Stroke; a journal of cerebral circulation. 2013; 44(3):612-9. NIHMSID: NIHMS439924 PMID: 23362085, PMCID: PMC3582722
Best LG, Anderson CM, Saxena R, Almoguera B, Chandrupatla H, et al. IBC CARe microarray allelic population prevalences in an American Indian population. PloS
one. 2013; 8(9):e75080. PMID: 24040389, PMCID: PMC3765406
Best LG, Saxena R, Anderson CM, Barnes MR, Hakonarson H, et al. Two variants of the C-reactive protein gene are associated with risk of pre-eclampsia in an
American Indian population. PloS one. 2013; 8(8):e71231. PMID: 23940726, PMCID: PMC3733916
Li H, Gan W, Lu L, Dong X, Han X, Saxena R, et al. A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. Diabetes.
2013; 62(1):291-8. PMID: 22961080, PMCID: PMC3526061
Best LG, Saxena R, Anderson CM, Barnes MR, Hakonarson H, et al. Correction: Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population. PloS one. 2013; 8(9). PMID: 24116239, PMCID: PMC3790894
2012
Asselbergs FW, Guo Y, van Iperen EP, Sivapalaratnam S, Tragante V, Saxena R, et al. Large-scale gene-centric meta-analysis across 32 studies identifies multiple
lipid loci. American journal of human genetics. 2012; 91(5):823-38. PMID: 23063622, PMCID: PMC3487124
Welt CK, Styrkarsdottir U, Ehrmann DA, Thorleifsson G, Arason G, Gudmundsson JA, Ober C, Rosenfield RL, Saxena R, et al. Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry. The Journal of clinical endocrinology and metabolism. 2012; 97(7):E1342-7. PMID: 22547425, PMCID: PMC3387396
Imamura M, Maeda S, Yamauchi T, Hara K, Yasuda K, Saxena R, et al. A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in
Japanese populations. Human molecular genetics. 2012; 21(13):3042-9. PMID: 22456796
Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Saxena R, et al. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature genetics. 2012; 44(6):659-69. NIHMSID: NIHMS430753 PMID: 22581228, PMCID:
PMC3613127
Stahl EA, Wegmann D, Trynka G, Gutierrez-Achury J, Do R, Saxena R, et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nature
genetics. 2012; 44(5):483-9. PMID: 22446960, PMCID: PMC3454878
Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, et al. Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. American journal
of human genetics. 2012; 90(3):410-25. PMID: 22325160, PMCID: PMC3309185
Marquez M, Huyvaert M, Perry JR, Pearson RD, Falchi M, Saxena R, et al. Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk. Diabetes. 2012; 61(2):524-30. PMID: 22210315, PMCID: PMC3266400
Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Saxena R, et al. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS genetics. 2012; 8(2):e1002490. PMID: 22359512, PMCID: PMC3280968
Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, Saxena R, et al. A genome-wide association search for type 2 diabetes genes in African Americans. PloS one. 2012; 7(1):e29202. PMID: 22238593, PMCID: PMC3251563
Kelly MA, Rees SD, Hydrie MZ, Shera AS, Bellary S, Saxena R, et al. Circadian gene variants and susceptibility to type 2 diabetes: a pilot study. PloS one. 2012;
7(4):e32670. PMID: 22485135, PMCID: PMC3317653
Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Saxena R, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a
multi-ethnic meta-analysis of 45,891 individuals. PLoS genetics. 2012; 8(3):e1002607. PMID: 22479202, PMCID: PMC3315470
Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Saxena R, et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and
anthropometric traits. PLoS genetics. 2012; 8(8):e1002793. PMID: 22876189, PMCID: PMC3410907
Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Saxena R, et al. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. PLoS genetics. 2012; 8(5):e1002695. PMID: 22589738, PMCID: PMC3349734
Carroll J, Saxena R, Welt CK. Environmental and genetic factors influence age at menarche in women with polycystic ovary syndrome. Journal of pediatric
endocrinology & metabolism : JPEM. 2012; 25(5-6):459-66. NIHMSID: NIHMS448626 PMID: 22876539, PMCID: PMC3597236
Kim SK, Gignoux CR, Wall JD, Lum-Jones A, Wang H, Saxena R, et al. Population genetic structure and origins of Native Hawaiians in the multiethnic cohort study. PloS one. 2012; 7(11):e47881. PMID: 23144833, PMCID: PMC3492381
Elbers CC, Guo Y, Tragante V, van Iperen EP, Lanktree MB, Saxena R, et al. Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PloS one. 2012; 7(12):e50198. PMID: 23236364, PMCID: PMC3517599
2011
Cho YS, Chen CH, Hu C, Long J, Ong RT, et al. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
Nature genetics. 2011; 44(1):67-72. NIHMSID: NIHMS440169 PMID: 22158537, PMCID: PMC3582398
Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, et al. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Nature genetics. 2011; 43(11):1131-8. NIHMSID: NIHMS411128 PMID: 22001757, PMCID: PMC3482372
Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, et al. Genome-wide association identifies nine common variants associated with fasting proinsulin
levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes. 2011; 60(10):2624-34. PMID: 21873549, PMCID: PMC3178302
Zhu H, Shyh-Chang N, Segrè AV, Shinoda G, Shah SP, et al. The Lin28/let-7 axis regulates glucose metabolism. Cell. 2011; 147(1):81-94. NIHMSID: NIHMS322292 PMID: 21962509, PMCID: PMC3353524
Lyssenko V, Eliasson L, Kotova O, Pilgaard K, Wierup N, et al. Pleiotropic effects of GIP on islet function involve osteopontin. Diabetes. 2011; 60(9):2424-33. PMID: 21810601, PMCID: PMC3161325
Pollin TI, Jablonski KA, McAteer JB, Saxena R, Kathiresan S, et al. Triglyceride response to an intensive lifestyle intervention is enhanced in carriers of the
GCKR Pro446Leu polymorphism. The Journal of clinical endocrinology and metabolism. 2011; 96(7):E1142-7. PMID: 21525158, PMCID: PMC3205512
Gusev A, Kenny EE, Lowe JK, Salit J, Saxena R, et al. DASH: a method for identical-by-descent haplotype mapping uncovers association with recent
variation. American journal of human genetics. 2011; 88(6):706-17. PMID: 21620352, PMCID: PMC3113343
Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, et al. Identification of an imprinted master trans regulator at the KLF14 locus related to multiple
metabolic phenotypes. Nature genetics. 2011; 43(6):561-4. NIHMSID: UKMS35276 PMID: 21572415, PMCID: PMC3192952
Hivert MF, Jablonski KA, Perreault L, Saxena R, McAteer JB, et al. Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with
diabetes incidence and regression to normoglycemia in the diabetes prevention program. Diabetes. 2011; 60(4):1340-8. PMID: 21378175, PMCID:
PMC3064108
Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, et al. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver
disease that have distinct effects on metabolic traits. PLoS genetics. 2011; 7(3):e1001324. PMID: 21423719, PMCID: PMC3053321
Anderson CD, Biffi A, Rahman R, Ross OA, Jagiella JM, et al. Common mitochondrial sequence variants in ischemic stroke. Annals of neurology. 2011; 69(3):471-80.
NIHMSID: NIHMS212755 PMID: 20839239, PMCID: PMC3003764
2010
Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Saxena R, et al. Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes. 2010; 59(12):3229-39. PMID: 20858683, PMCID: PMC2992787
Nettleton JA, McKeown NM, Kanoni S, Lemaitre RN, Hivert MF, Saxena R, et al. Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies. Diabetes care. 2010; 33(12):2684-91. PMID: 20693352, PMCID: PMC2992213
Cotsapas C, Prokunina-Olsson L, Welch C, Saxena R, Weaver C, et al. Expression analysis of loci associated with type 2 diabetes in human tissues. Diabetologia.
2010; 53(11):2334-9. PMID: 20703447
Jablonski KA, McAteer JB, de Bakker PI, Franks PW, Pollin TI, Saxena R, et al. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. Diabetes. 2010; 59(10):2672-81. PMID: 20682687, PMCID: PMC3279522
Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Saxena R, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature genetics. 2010; 42(7):579-89. NIHMSID: UKMS34421 PMID: 20581827, PMCID: PMC3080658
Biffi A, Anderson CD, Nalls MA, Rahman R, Sonni A, Saxena R, et al. Principal-component analysis for assessment of population stratification in mitochondrial medical
genetics. American journal of human genetics. 2010; 86(6):904-17. PMID: 20537299, PMCID: PMC3032075
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2
diabetes risk. Nature genetics. 2010; 42(2):105-16. NIHMSID: NIHMS259059 PMID: 20081858, PMCID: PMC3018764
Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose
challenge. Nature genetics. 2010; 42(2):142-8. NIHMSID: NIHMS226512 PMID: 20081857, PMCID: PMC2922003
Reiling E, Jafar-Mohammadi B, van 't Riet E, Weedon MN, van Vliet-Ostaptchouk JV, Saxena R, et al. Genetic association analysis of LARS2 with type 2 diabetes. Diabetologia. 2010; 53(1):103-10. PMID: 19847392, PMCID: PMC2789927
2009 and before
Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Saxena R, et al. Parental origin of sequence variants associated with complex diseases. Nature. 2009;
462(7275):868-74. NIHMSID: EMS54208 PMID: 20016592, PMCID: PMC3746295
Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Saxena R, et al. A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS genetics. 2009; 5(12):e1000768. PMID: 20011104, PMCID: PMC2781107
Prokunina-Olsson L, Welch C, Hansson O, Adhikari N, Scott LJ, Saxena R, et al. Tissue-specific alternative splicing of TCF7L2. Human molecular genetics. 2009; 18(20):3795-804. PMID: 19602480, PMCID: PMC2748888
Perry JR, Ferrucci L, Bandinelli S, Guralnik J, Semba RD, Saxena R, et al. Circulating beta-carotene levels and type 2 diabetes-cause or effect? Diabetologia. 2009;
52(10):2117-21. NIHMSID: NIHMS140902 PMID: 19662379, PMCID: PMC2746424
Florez JC, Price AL, Campbell D, Riba L, Parra MV, Saxena R, et al. Strong association of socioeconomic status with genetic ancestry in Latinos: implications for admixture studies of type 2 diabetes. Diabetologia. 2009; 52(8):1528-36. NIHMSID: NIHMS298934 PMID: 19526211, PMCID: PMC3113605
Lyssenko V, Nagorny CL, Erdos MR, Wierup N, Jonsson A, Saxena R, et al. Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nature genetics. 2009; 41(1):82-8. NIHMSID: NIHMS491670 PMID: 19060908, PMCID: PMC3725650
Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, et al. Variants in MTNR1B influence fasting glucose levels. Nature genetics. 2009; 41(1):77-81. NIHMSID: NIHMS89177 PMID: 19060907, PMCID: PMC2682768
Rafiq S, Melzer D, Weedon MN, Lango H, Saxena R, et al. Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Diabetologia. 2008; 51(12):2205-13. NIHMSID: NIHMS79366 PMID: 18853133, PMCID:
PMC2662689
Choy E, Yelensky R, Bonakdar S, Plenge RM, Saxena R, et al. Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell
lines. PLoS genetics. 2008; 4(11):e1000287. PMID: 19043577, PMCID: PMC2583954
Orho-Melander M, Melander O, Guiducci C, Perez-Martinez P, Corella D, Saxena R, et al. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes. 2008; 57(11):3112-21. PMID: 18678614, PMCID: PMC2570409
Moore AF, Jablonski KA, McAteer JB, Saxena R, Pollin TI, et al. Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention
program. Diabetes. 2008; 57(9):2503-10. PMID: 18544707, PMCID: PMC2518503
Chen WM, Erdos MR, Jackson AU, Saxena R, Sanna S, et al. Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. The
Journal of clinical investigation. 2008; 118(7):2620-8. PMID: 18521185, PMCID: PMC2398737
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nature genetics. 2008; 40(5):638-45. NIHMSID: UKMS4376 PMID: 18372903, PMCID: PMC2672416
Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Saxena R, et al. Genome-wide detection and characterization of positive selection in human populations.
Nature. 2007; 449(7164):913-8. NIHMSID: UKMS4416 PMID: 17943131, PMCID: PMC2687721
Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Saxena R, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007; 449(7164):851-61. NIHMSID: UKMS4415 PMID: 17943122, PMCID: PMC2689609
Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Saxena R, et al. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nature genetics. 2007; 39(10):1245-50. NIHMSID: UKMS35163 PMID: 17767157, PMCID: PMC3086278
Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
Science (New York, N.Y.). 2007; 316(5829):1331-6. PMID: 17463246
Parikh H, Carlsson E, Chutkow WA, Johansson LE, Storgaard H, Saxena R, et al. TXNIP regulates peripheral glucose metabolism in humans. PLoS medicine. 2007;
4(5):e158. PMID: 17472435, PMCID: PMC1858708
Florez JC, Saxena R, Winckler W, Burtt NP, Almgren P, et al. The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in
8,676 people. Diabetes. 2006; 55(12):3620-4. PMID: 17130512
Lyon HN, Florez JC, Bersaglieri T, Saxena R, Winckler W, et al. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.
Diabetes. 2006; 55(11):3180-4. PMID: 17065359
Saxena R, Gianniny L, Burtt NP, Lyssenko V, Giuducci C, et al. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2
diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes. 2006; 55(10):2890-5. PMID: 17003358
Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, et al. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.
American journal of human genetics. 2006; 79(1):54-61. PMID: 16773565, PMCID: PMC1474138
Giacalone J, Delobette S, Gibaja V, Ni L, Skiadas Y, Saxena R, et al. Optical mapping of BAC clones from the human Y chromosome DAZ locus. Genome research. 2000; 10(9):1421-9. PMID: 10984460, PMCID: PMC310922
Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, et al. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome.
Genomics. 2000; 67(3):256-67. PMID: 10936047
Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, et al. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was
transposed, repeatedly amplified and pruned. Nature genetics. 1996; 14(3):292-9. PMID: 8896558
Ho CY, Otterud B, Legare RD, Varvil T, Saxena R, et al. Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human
chromosome 21q22.1-22.2. Blood. 1996; 87(12):5218-24. PMID: 8652836
Saxena R, Shaw GL, Relling MV, Frame JN, Moir DT, et al. Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association
with the poor metabolizer phenotype. Human molecular genetics. 1994; 3(6):923-6. PMID: 7951238
