Publications

Selected publications
* indicates co-first or co-last authors

Brotman SM, Oravilahti A, Rosen JD, Alvarez M, Heinonen S, Silva LF, Perron HJ, Vadlamudi S, Pylant C, Deochand S, Basta PV, Valone J, Narain MN, Stringham HM, Boehnke M, Kuusisto J, Love MI, Pietiläinen KH, Pajukanta P, Laakso M, Mohlke KL (2023) Cell-type composition affects adipose gene expression associations with cardiometabolic traits. Diabetes 72: 1707–1718. PMC10588284

Sun Q*, Broadaway KA*, Edmiston SN, Fajgenbaum K, Miller-Fleming T, Westerkam LL, Melendez-Gonzalez M, Bui H, Blum FR, Levitt B, Lin L, Hao H, Harris KM, Liu Z, Thomas NE, Cox NJ, Li Y*, Mohlke KL*, Sayed CJ* (2023) Genetic variants associated with hidradenitis suppurativa. JAMA Dermatol 159:930-938.

Williamson A, Norris DM, Yin X, Broadaway KA, Moxley AH, Vadlamudi S, Wilson EP, Jackson AU, … Barroso I, Walker M, Grarup N, Boehnke M, Wareham NJ, Mohlke KL*, Wheeler E*, O’Rahilly S*, Fazakerley DJ*, Langenberg C* (2023) Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake. Nat Genet 55:973-983. PMC761475

Broadaway KA, Yin X, Williamson A, Parsons VA, Wilson EP, Moxley AH, Vadlamudi S, Varshney A, Jackson AU, …Watkins H, Barroso I, O’Rahilly S, Grarup N, Parker SC, Boehnke M, Langenberg C, Wheeler E*, Mohlke KL* (2023) Loci for insulin processing and secretion provide insight into type 2 diabetes risk. Am J Hum Genet 110:284-299. PMC9943750

El-Sayed Moustafa JS*, Jackson AU*, Brotman SM*, Guan L*, Villicaña S, Roberts AL, Zito A, Bonnycastle LL, Erdos MR, Narisu N, Stringham HM, Welch R, Yan T, Lakka T, Parker SCJ, Tuomilehto T, Seow J, Graham C, Huettner I, Acors S, Kouphou N, Wadge S, Duncan EL, Steves CJ, Doores KJ, Malim MH, Collins FS, Pajukanta P, Boehnke M, Koistinen HA, Laakso M, Falchi M, Bell JT, Scott LJ*, Mohlke KL*, Small KS* (2022) ACE2 expression in adipose tissue is associated with COVID-19 cardiometabolic risk factors and cell type composition. Int J Obesity 46:1478-1486. PMC9119844

Brotman SM*, Raulerson CK*, Vadlamudi S, Currin KW, Shen Q, Parsons VA, Iyengar AK, Roman TS, Furey TS, Kuusisto J, Collins FS, Boehnke M, Laakso M, Pajukanta P, Mohlke KL (2022) Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits. Am J Hum Genet 109:66-80. PMC8764203

Perrin HJ*, Currin KW*, Vadlamudi S, Pandey GK, Ng KK, Wabitsch M, Laakso M, Love MI, Mohlke KL (2021) Chromatin accessibility and gene expression during adipocyte differentiation identify context-dependent effects at cardiometabolic GWAS loci. PLoS Genet 17:e1009865 PMC8570510

Chen J*, Spracklen CN*, Marenne G*, Varshney A*, Corbin LJ*, …, Parker SCJ*, Mohlke KL*, Langenberg C*, Wheeler E*, Morris AP*, Barroso I* (2021) The trans-ancestral genomic architecture of glycaemic traits. Nat Genet 53:840-860. PMC7610958

Currin KW, Erdos MR, Narisu N, Rai V, Vadlamudi S, Perrin HJ, Idol JR, Yan T, Albanus RD, Broadaway KA, Etheridge AS, Bonnycastle LL, Orchard P, Didion JP, Chaudhry AS; NISC Comparative Sequencing Program, Innocenti F, Schuetz EG, Scott LJ, Parker SCJ, Collins FS*, Mohlke KL* (2021) Genetic effects on liver chromatin accessibility identify disease regulatory variants. Am J Hum Genet 108:1169-1189.  PMC8323023

Spracklen CN, Iyengar AK, Vadlamudi S, Raulerson CK, Jackson AU, Brotman SM, Wu Y, Cannon ME, Davis JP, Crain AT, Currin KW, Perrin HJ, Narisu N, Stringham HM, Fuchsberger C, Locke AE, Welch RP, Kuusisto JK, Pajukanta P, Scott LJ, Li Y, Collins FS, Boehnke M, Laakso M, Mohlke KL (2020) Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences. PLoS Genet 16:e1009019. PMC7511027

Spracklen CN*, Horikoshi M*, Kim YJ*, Lin K*, Bragg F, Moon S, Suzuki K, Tam CHT, Tabara Y, Kwak SH, Takeuchi F, Long J, Lim VJY, Chai JF, Chen CH, Nakatochi M, Yao J, Choi HS, Iyengar AK, Perrin HJ, Brotman SM, … Kadowaki T*, Walters RG*, Kim BJ*, Mohlke KL*, Sim X* (2020) Identification of type 2 diabetes loci in 433,540 East Asian individuals. Nature 582:240-245. PMC7292783

Raffield LM, Iyengar AK, Wang B, Gaynor SM, Spracklen CN, Zhong X, Kowalski MH, Salimi S, Polfus LM, … Lin X, Li B, Li Y, Dupuis J, Reiner AP, Mohlke KL, Auer PL; TOPMed Inflammation Working Group; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium (2020) Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts. Am J Hum Genet 106:112-120. PMC7042494

Wu Y*, Broadaway KA*, Raulerson CK, Scott LJ, Pan C, Ko A, He A, Tilford C, Fuchsberger C, Locke AE, Stringham HM, Jackson AU, Narisu N, Kuusisto J, Pajukanta P, Collins FS, Boehnke M, Laakso M, Lusis AJ, Civelek M*, Mohlke KL* (2019) Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution. Hum Mol Genet 28:4161-4172. PMC7202621

Raulerson CK, Ko A, Kidd JC, Currin KW, Brotman SM, Cannon ME, Wu Y, Spracklen CN, Jackson AU, Stringham HM, Welch RC, Fuchsberger C, Locke AE, Narisu N, Lusis AJ, Civelek M, Furey TS, Kuusisto J, Collins FS, Boehnke M, Soctt LJ, Lin DY, Love MI, Laakso M, Pajukanta P, Mohlke KL (2019) Adipose tissue gene expression associations reveal hundreds of candidate genes for cardiometabolic traits. Am J Hum Genet 105:773-787. PMC6817527

Cannon ME*, Currin KW*, Young KL, Perrin HJ, Vadlamudi S, Safi A, Song L, Wu Y, Wabitsch M, Laakso M, Crawford GE, Mohlke KL (2019) Open chromatin profiling in adipose tissue marks genomic regions with functional roles in cardiometabolic traits. G3 9: 2521-2533. PMC6686932

Spracklen CN*, Karaderi T*, Yaghootkar H, Schurmann C, Fine RS, Kutalik Z, Preuss MH, Lu Y, Wittemans LBL, … Langenberg C, Frayling TM, Kilpeläinen TO, Lindgren CM*, Loos RJ*, Mohlke KL* (2019) Exome-derived adiponectin-associated variants implicate obesity and lipid biology. Am J Hum Genet 105:15-28. PMC6612516

Davis JP, Vadlamudi S, Roman TS, Zeynalzadeh M, Iyengar AK, Mohlke KL (2019) Enhancer deletion and allelic effects define a regulatory molecular mechanism at the VLDLR cholesterol GWAS locus. Hum Mol Genet 28:888-895. PMC6400044

Spracklen CN*, Shi J*, Vadlamudi S, Wu Y, Zou M, Raulerson CK, Davis JP, Zeynalzadeh M, Jackson K, Yuan W, Wang H, Shou W, Wang Y, Luo J, Lange LA, Lange EM, Popkin BM, Gordon-Larsen P, Du S, Huang W*, Mohlke KL* (2018) Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey. PLoS Gen 14:e1007275. PMC5886383

Teslovich TM*, Kim DS*, Yin X*, Stancakova A, Jackson AU, Wielscher M, Naj A, Perry JR, Huyghe JR, Stringham HM, Davis JP, Raulerson CK, … Collins FS, Boehnke M*, Laakso M*, Mohlke KL* (2018) Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8,845 Finnish men from the METSIM study. Hum Mol Genet 27:1664-1674. PMC5905595

Davis JP*, Huyghe JR*, Locke AE, Jackson AU, Sim X, Stringham HM, Teslovich TM, Welch RP, Fuchsberger C, Narisu N, Chines PS, Kangas AJ, Soininen P, Ala-Korpela M, Kuusisto J, Collins FS, Laakso M*, Boehnke M*, Mohlke KL* (2017) Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men in the METSIM study. PLoS Genet 13:e1007079. PMC5679656

Cannon ME, Duan Q, Wu Y, Xu Z, Kangas AJ, Soininen P, Ala-Korpela M, Civelek M, Lusis AJ, Kuusisto J, Collins FS, Boehnke M, Tang H, Laakso M, Li Y, Mohlke KL (2017) Trans-ancestry fine mapping and molecular assays identify regulatory variants at the ANGPTL8 HDL-C GWAS locus. G3 (Bethesda) 7:3217-3227. PMC5592946

Roman TS, Cannon ME, Vadlamudi S, Buchkovich ML, Wolford BN, Welch RP, Morken MA, Kwon GJ, Varshney A, Kursawe R, Wu Y, Jackson AU; Sequencing Program NISC Comparative, Erdos MR, Kuusisto J, Laakso M, Scott LJ, Boehnke M, Collins FS, Parker SCJ, Stitzel ML, Mohlke KL (2017) A functional regulatory variant associated with type 2 diabetes and decreased ADCY5 expression. Diabetes 66:2521-2530. PMC5860374

Spracklen CN*, Chen P*, Kim YJ*, Wang X*, Cai Hui*, Li S*, Long J*, WuY*, Wang YX*, Takeuchi F*, Wu JY*, Jung KJ*, Hu C*, Akiyama K*, Zhang Y*, Moon S*, Johnson TA*, Li H*, Dorajoo*, He*, Cannon ME, Roman TS, …Huang W*, Kim BJ*, Tai ES*, Mohlke KL*, Sim X* (2017) Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. Hum Mol Genet 26:1770-1784. PMC6075203

Civelek M*, Wu Y*, Pan C, Raulerson CK, Ko A, He A, Tilford C, Saleem NK, StančákováA, Scott LJ, Fuchsberger C, Stringham HM, Jackson AU, Narisu N, Chines PS, Small KS, Kuusisto J, Parks BW, Pajukanta P, Kirchgessner T, Collins FS, Gargalovic PS, Boehnke M, Laakso M*, Mohlke KL*, Lusis AJ* (2017) Geneticregulation of adipose gene expression and cardio-metabolic traits. Am J Hum Genet 100:428-433. PMC5339333

Roman TS, Marvelle AF, Fogarty MP, Vadlamudi S, Gonzalez AJ, Buchkovich ML, Huyghe JR, Fuchsberger C, Jackson AU, Wu Y, Civelek M, Lusis AJ, Gaulton KJ, Sethupathy P, Kangas AJ, Soininen P, Ala-Korpela M, Kuusisto J, Collins FS, Laakso M, Boehnke M, Mohlke KL (2015) Multiple hepatic regulatory variants at the GALNT2 high-density lipoprotein cholesterol GWAS locus. Am J Hum Genet 97:801-815. PMC4678431

Buchkovich ML, Eklund K, Duan Q, Li Y, Mohlke KL*, Furey TS* (2015) Removing reference mapping biases using limited or no genotype data identifies allelic differences in protein binding at disease-associated loci. BMC Med Genomics 8:43. PMC4515314

Shungin D*, Winkler TW*, Croteau-Chonka DC*, Ferreira T*, Locke AE*, Magi R*, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JM, Buchkovich ML, Heard-Costa NL, Roman TS, … Ingelsson E, Heid IM*, Loos RJ*, Cupples LA*, Morris AP*, Lindgren CM*, Mohlke KL* (2015) New genetic loci link adipocyte and insulin biology to body fat distribution. Nature 518:187-196. PMC4338562

Fogarty MP, Cannon ME, Vadlamudi S, Gaulton KJ, Mohlke KL (2014) Identification of a Regulatory Variant that binds FOXA1 and FOXA2 at the CDC123/CAMK1D Type 2 Diabetes GWAS locus. PLoS Genet 10:e1004633. PMC4161327

Hwang JY*, Sim X*, Wu Y*, Liang J*, Tabara Y*, Hu C*, Hara K*, Tam CH*, Cai Q*, Zhao Q*, Jee S*, Takeuchi F*, … Kato N*, Yoon M*, He J*, Shu XO*, Ma RC*, Kadowaki T*, Jia W*, Miki T*, Qi L*, Tai ES*, Mohlke KL*, Han BG*, Cho YS*, Kim BJ* (2014) Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. Diabetes 64:291-298. PMC4274808

Global Lipids Genetics Consortium, Willer CJ*, Schmidt EM*, Sengupta S*, Peloso GM, Gustafsson S, …, Boehnke M*, Deloukas P*, Kathiresan S*, Mohlke KL*, Ingelsson E*, Abecasis GR* (2013) Discovery and refinement of loci associated with lipid levels. Nat Genet 45:1274-1283. PMC3838666

Wu Y, Waite LL, Jackson AU, Sheu WH, Buyske S, …, Boehnke M*, Haiman CA*, Chen YD*, Kooperberg C*, Assimes TL*, Crawford DC*, Hsiung CA*, North KE*, Mohlke KL* (2013) Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet 9: e1003379. PMC3605054

Huyghe JR, Jackson AU, Fogarty MP, Buchkovich ML, Stančáková A, Stringham HM, Sim X, Yang L, Fuchsberger C, Cederberg H, Chines PS, Teslovich TM, Romm JM, Ling H, McMullen I, Ingersoll R, Pugh EW, Doheny KF, Neale BM, Daly MJ, Kuusisto J, Scott LJ, Kang HM, Collins FS, Abecasis GR, Watanabe RM, Boehnke M*, Laakso M*, Mohlke KL* (2013) Exome array analysis identifies new loci and low-frequency variants for insulin processing and secretion. Nat Genet 45:197-201. PMC3727235

Croteau-Chonka DC, Wu Y, Li Y, Fogarty MP, Lange LA, Kuzawa CW, McDade T, Borja JB, Luo J, AbdelBaky O, Combs TP, Adair LS, Lange EM, Mohlke KL (2012) Population-specific coding variant underlies genome-wide association with adiponectin level. Hum Mol Genet 21:463-471. PMC3276282

Lange LA, Croteau-Chonka DC, Marvelle AF, Qin L, Gaulton KJ, Kuzawa CW, McDade TW, Wang Y, Li Y, Levy S, Borja JB, Lange EM, Adair LS, Mohlke KL (2010) Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. Hum Mol Genet 19:2050-2058. PMC2860887

Gaulton KJ*, Nammo T*, Pasquali L*, Simon JM, Giresi PG, Fogarty MP, Panhuis TM, Mieczkowski P, Secchi A, Bosco D, Montanya E, Berny T, Mohlke KL*, Lieb JD*, Ferrer J* (2010) A map of open chromatin in human pancreatic islets. Nat Genet 42:255-259. PMC2828505

Willer CJ*, Sanna S*, Jackson AU, Scuteri A, Bonnycastle LL, … Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL*, Abecasis GR* (2008) Genome-wide association scans identify novel loci that influence lipid levels and risk of coronary artery disease. Nat Genet 40:161-169

Sanna S*, Jackson AU*, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, … Schlessinger D, Collins FS, Davey Smith G, Boerwinkle E, Cao A, Boehnke M, Abecasis GR*, Mohlke KL* (2008) Common variants in the GDF5 – UQCC region are associated with variation in human height. Nat Genet 40:198-203.

Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, … Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316:1341-1345.

Here is a link to additional publications.