Recent Publications

Age-dependent genes in adipose stem and precursor cells affect regulation of fat cell differentiation and link aging to obesity via cellular and genetic interactions. Genome Med. 2024 Jan 31;16(1):19. Kar A, Alvarez M, Garske KM, Huang H, Lee SHT, Deal M, Das SS, Koka A, Jamal Z, Mohlke KL, Laakso M, Heinonen S, Pietiläinen KH, Pajukanta P. PMID: 38297378; PMCID: PMC10829214.

Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries. Nat Genet. 2023 Dec;55(12):2269-2276. An U, Pazokitoroudi A, Alvarez M, Huang L, Bacanu S, Schork AJ, Kendler K, Pajukanta P, Flint J, Zaitlen N, Cai N, Dahl A, Sankararaman S. PMID: 37985819; PMCID: PMC10703681.

A second update on mapping the human genetic architecture of COVID-19. Nature. 2023 Sep 6;621(7977):E7-E26. COVID-19 Host Genetics Initiative. PMID: 37674002; PMCID: PMC10482689.

Increased body mass index is linked to systemic inflammation through altered chromatin co-accessibility in human preadipocytes. Nature Communications. 2023 Jul 14; 14(1):4214. Garske KM, Kar A, Comenho C, Balliu B, Pan DZ, Bhagat YV, Rosenberg G, Koka A, Das SS, Miao Z, Sinsheimer JS, Kaprio J, Pietiläinen KH, Pajukanta P. PMID: 37452040.

Cross-Tissue Single-Nucleus RNA Sequencing Discovers Tissue-Resident Adipocytes Involved in Propanoate Metabolism in the Human Heart. Arterioscler Thromb Vasc Biol. 2023 Jul 6. Das SS, Kar A, Rajkumar S, Lee SHT, Alvarez M, Pietiläinen KH, Pajukanta P. PMID: 37409528.

Cross-tissue omics analysis discovers ten adipose genes encoding secreted proteins in obesity-related non-alcoholic fatty liver disease. EBioMedicine. 2023 May 22; 92:104620. Darci-Maher N, Alvarez M, Arasu UT, Selvarajan I, Lee SHT, Pan DZ, Miao Z, Das SS, Kaminska D, Örd T, Benhammou JN, Wabitsch M, Pisegna JR, Männistö V, Pietiläinen KH, Laakso M, Sinsheimer JS, Kaikkonen MU, Pihlajamäki J, Pajukanta P. PMID: 37224770.

Impaired adipocyte SLC7A10 promotes lipid storage in association with insulin resistance and altered BCAA metabolism. J Clin Endocrinol Metab. 2023 Mar 14; dgad148. Jersin RA, Tallapragada DSP, Skartveit L, Bjune MS, Muniandy M, Lee-Ødegård S, Heinonen S, Alvarez M, Birkeland KI, Drevon CA, Pajukanta P, McCann A, Pietiläinen KH, Claussnitzer M, Mellgren G, Dankel SN. PMID: 36916878.

Isolation of Nuclei from Human Snap-frozen Liver Tissue for Single-nucleus RNA Sequencing. Bio Protoc. 2023 Feb 05; 13(3):e4601. Alvarez M, Benhammou JN, Rao S, Mishra L, Pisegna JR, Pajukanta P. PMID: 36874905; PMCID: PMC9976782.

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biol. 2022 Dec 27; 23(1):268. Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw E, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Vazquez-Moreno M, Feitosa MF, Wojczynski MK, Wang Z, Preuss MH, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Tsao NL, Verma A, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Frank M, Schmidt B, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Bayyana S, Stringham HM, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Nardone GG, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Liang J, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Peyser PA, Kato N, Schulze MB, Girotto G, Böger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusié-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, et al. PMID: 36575460; PMCID: PMC9793579.

A saturated map of common genetic variants associated with human height. Nature. 2022 10; 610(7933):704-712. Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina- Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar- Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst- Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot TE, Gao Y, Gao Z, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, He J, Heard-Costa N, Hebbar P, Hindy G, Ho YA, Hofer E, Holliday E, Horn K, Hornsby WE, Hottenga JJ, Huang H, Huang J, Huerta-Chagoya A, Huffman JE, Hung YJ, Huo S, Hwang MY, Iha H, Ikeda DD, Isono M, Jackson AU, Jäger S, Jansen IE, Johansson I, Jonas JB, Jonsson A, Jørgensen T, Kalafati IP, Kanai M, Kanoni S, Kårhus LL, Kasturiratne A, Katsuya T, Kawaguchi T, Kember RL, Kentistou KA, Kim HN, Kim YJ, Kleber ME, Knol MJ, Kurbasic A, Lauzon M, Le P, Lea R, Lee JY, Leonard HL, Li SA, Li X, Li X, Liang J, Lin H, Lin SY, Liu J, Liu X, Lo KS, Long J, Lores-Motta L, Luan J, Lyssenko V, Lyytikäinen LP, Mahajan A, Mamakou V, Mangino M, Manichaikul A, Marten J, Mattheisen M, Mavarani L, McDaid AF, Meidtner K, Melendez TL, Mercader JM, Milaneschi Y, Miller JE, Millwood IY, Mishra PP, Mitchell RE, Møllehave LT, Morgan A, Mucha S, Munz M, Nakatochi M, Nelson CP, Nethander M, Nho CW, Nielsen AA, Nolte IM, Nongmaithem SS, Noordam R, Ntalla I, Nutile T, Pandit A, Christofidou P, Pärna K, Pauper M, Petersen ERB, Petersen LV, Pitkänen N, Polašek O, Poveda A, Preuss MH, Pyarajan S, Raffield LM, Rakugi H, Ramirez J, Rasheed A, Raven D, Rayner NW, Riveros C, Rohde R, Ruggiero D, Ruotsalainen SE, Ryan KA, Sabater-Lleal M, Saxena R, Scholz M, Sendamarai A, Shen B, Shi J, Shin JH, Sidore C, Sitlani CM, Slieker RC, Smit RAJ, Smith AV, Smith JA, Smyth LJ, Southam L, Steinthorsdottir V, Sun L, Takeuchi F, Tallapragada DSP, Taylor KD, Tayo BO, Tcheandjieu C, Terzikhan N, Tesolin P, Teumer A, Theusch E, Thompson DJ, Thorleifsson G, Timmers PRHJ, Trompet S, Turman C, Vaccargiu S, van der Laan SW, van der Most PJ, van Klinken JB, van Setten J, Verma SS, Verweij N, Veturi Y, Wang CA, Wang C, Wang L, Wang Z, Warren HR, Bin Wei W, Wickremasinghe AR, Wielscher M, Wiggins KL, Winsvold BS, Wong A, Wu Y, Wuttke M, Xia R, Xie T, Yamamoto K, Yang J, Yao J, Young H, Yousri NA, Yu L, Zeng L, Zhang W, Zhang X, Zhao JH, Zhao W, Zhou W, Zimmermann ME, Zoledziewska M, Adair LS, Adams HHH, Aguilar-Salinas CA, Al-Mulla F, Arnett DK, Asselbergs FW, Åsvold BO, Attia J, Banas B, Bandinelli S, Bennett DA, Bergler T, Bharadwaj D, Biino G, Bisgaard H, Boerwinkle E, Böger CA, Bønnelykke K, Boomsma DI, Børglum AD, Borja JB, Bouchard C, Bowden DW, Brandslund I, Brumpton B, Buring JE, Caulfield MJ, Chambers JC, Chandak GR, Chanock SJ, Chaturvedi N, Chen YI, Chen Z, Cheng CY, Christophersen IE, Ciullo M, Cole JW, Collins FS, Cooper RS, Cruz M, Cucca F, Cupples LA, Cutler MJ, Damrauer SM, Dantoft TM, de Borst GJ, de Groot LCPGM, De Jager PL, de Kleijn DPV, Janaka de Silva H, Dedoussis GV, den Hollander AI, Du S, Easton DF, Elders PJM, et al. PMID: 36224396; PMCID: PMC9605867.

Single-cell dissection of the obesity-exercise axis in adipose-muscle tissues implies a critical role for mesenchymal stem cells. Cell Metab. 2022 Oct 04; 34(10):1578-1593.e6. Yang J, Vamvini M, Nigro P, Ho LL, Galani K, Alvarez M, Tanigawa Y, Renfro A, Carbone NP, Laakso M, Agudelo LZ, Pajukanta P, Hirshman MF, Middelbeek RJW, Grove K, Goodyear LJ, Kellis M. PMID: 36198295; PMCID: PMC9558082.

Hyperinsulinemia Is Highly Associated With Markers of Hepatocytic Senescence in Two Independent Cohorts. Diabetes. 2022 Sep 01; 71(9):1929-1936. Meijnikman AS, van Olden CC, Aydin Ö, Herrema H, Kaminska D, Lappa D, Männistö V, Tremaroli V, Olofsson LE, de Brauw M, van de Laar A, Verheij J, Gerdes VEA, Schwartz TW, Nielsen J, Bäckhed F, Pajukanta P, Pihlajamäki J, Tchkonia T, Kirkland JL, Kuipers F, Nieuwdorp M, Groen AK. PMID: 35713877; PMCID: PMC9450852.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Am J Hum Genet. 2022 08 04; 109(8):1366-1387. Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Lee WJ, Hsiung CA, Warren HR, Ramirez J, Bork-Jensen J, K?rhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques- Vidal P, Wielscher M, Trompet S, Sattar N, M?llehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Sch?nherr S, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Le P, Feitosa MF, Wojczynski MK, Hemerich D, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Noah TL, Verma A, Slieker RC, Lo KS, Zilhao NR, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Emmel C, Schmidt B, Smyth LJ, Ca?adas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-K?h?nen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Sankareswaran A, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lor?s-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Morgan A, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitk?nen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytik?inen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, He KY, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, J?ger S, Nabika T, Al- Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, K?h?nen M, P?russe L, Bouchard C, T?njes A, Ida Chen YD, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellstr?m D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, V?lzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Peyser PA, Kato N, Schulze MB, Girotto G, B?ger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusi?-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, et al. PMID: 35931049; PMCID: PMC9388392.

Long-range chromosomal interactions increase and mark repressed gene expression during adipogenesis. Epigenetics. 2022 Dec; 17(13):1849-1862. Garske KM, Comenho C, Pan DZ, Alvarez M, Mohlke K, Laakso M, Pietiläinen KH, Pajukanta P. PMID: 35746833; PMCID: PMC9665133.

ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition-implications for COVID-19. Int J Obes (Lond). 2022 Aug; 46(8):1478-1486. El- Sayed Moustafa JS, Jackson AU, Brotman SM, Guan L, Villicaña S, Roberts AL, Zito A, Bonnycastle L, Erdos MR, Narisu N, Stringham HM, Welch R, Yan T, Lakka T, Parker S, Tuomilehto J, 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. PMID: 35589964; PMCID: PMC9119844.

Human liver single nucleus and single�cell RNA sequencing identify a hepatocellular carcinoma- associated cell-type affecting survival. Genome Med. 2022 05 17; 14(1):50. Alvarez M, Benhammou JN, Darci-Maher N, French SW, Han SB, Sinsheimer JS, Agopian VG, Pisegna JR, Pajukanta P. PMID: 35581624; PMCID: PMC9115949.

Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits. Am J Hum Genet. 2022 Jan 06; 109(1):66-80. 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. PMID: 34995504; PMCID: PMC8764203.

2-spectrin (SPTBN1) as a therapeutic target for diet-induced liver disease and preventing cancer development. Sci Transl Med. 2021 12 15; 13(624):eabk2267. Rao S, Yang X, Ohshiro K, Zaidi S, Wang Z, Shetty K, Xiang X, Hassan MI, Mohammad T, Latham PS, Nguyen BN, Wong L, Yu H, Al-Abed Y, Mishra B, Vacca M, Guenigault G, Allison MED, Vidal-Puig A, Benhammou JN, Alvarez M, Pajukanta P, Pisegna JR, Mishra L. PMID: 34910547; PMCID: PMC8941321.

The power of genetic diversity in genome-wide association studies of lipids. Nature. 2021 12; 600(7890):675-679. Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, K?rhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques- Vidal P, Wielscher M, Trompet S, Sattar N, M?llehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Feitosa MF, Wojczynski MK, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Kember RL, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Leonard HL, Marten J, Schmidt B, Arendt M, Smyth LJ, Ca?adas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-K?h?nen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Ahmed M, Jackson AU, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Chai X, Prasad G, Lor?s-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Hung YJ, Chen S, Liu F, Yang J, Kentistou KA, Gorski M, Brumat M, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Xue C, Zhang J, Concas MP, Vaccargiu S, van der Most PJ, Pitk?nen N, Cade BE, Lee J, van der Laan SW, Chitrala KN, Weiss S, Zimmermann ME, Lee JY, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytik?inen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hildalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Schwander K, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Highland HM, Young KL, Kawaguchi T, Thiery J, Bis JC, Nadkarni GN, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, J?ger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, Bhatti KF, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, K?h?nen M, P?russe L, Bouchard C, T?njes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellstr?m D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, V?lzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Chen YE, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Kato N, Schulze MB, Girotto G, Jung B, B?ger CA, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Walker M, Koistinen HA, et al. PMID: 34887591; PMCID: PMC8730582.

Fast estimation of genetic correlation for biobank-scale data. Am J Hum Genet. 2022 01 06; 109(1):24-32. Wu Y, Burch KS, Ganna A, Pajukanta P, Pasaniuc B, Sankararaman S. PMID: 34861179; PMCID: PMC8764132.

Electrical impedance tomography for non-invasive identification of fatty liver infiltrate in overweight individuals. Sci Rep. 2021 10 06; 11(1):19859. Chang CC, Huang ZY, Shih SF, Luo Y, Ko A, Cui Q, Sumner J, Cavallero S, Das S, Gao W, Sinsheimer J, Bui A, Jacobs JP, Pajukanta P, Wu H, Tai YC, Li Z, Hsiai TK. PMID: 34615918; PMCID: PMC8494919.

Indole-3-Propionic Acid, a Gut-Derived Tryptophan Metabolite, Associates with Hepatic Fibrosis. Nutrients. 2021 Oct 05; 13(10). Sehgal R, Ilha M, Vaittinen M, Kaminska D, Männistö V, Kärjä V, Tuomainen M, Hanhineva K, Romeo S, Pajukanta P, Pihlajamäki J, de Mello VD. PMID: 34684510; PMCID: PMC8538297.

Identification of 90 NAFLD GWAS loci and establishment of NAFLD PRS and causal role of NAFLD in coronary artery disease. HGG Adv. 2022 Jan 13; 3(1):100056. Miao Z, Garske KM, Pan DZ, Koka A, Kaminska D, Männistö V, Sinsheimer JS, Pihlajamäki J, Pajukanta P. PMID: 35047847; PMCID: PMC8756520.

Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes. Genome Med. 2021 08 02; 13(1):123. Pan DZ, Miao Z, Comenho C, Rajkumar S, Koka A, Lee SHT, Alvarez M, Kaminska D, Ko A, Sinsheimer JS, Mohlke KL, Mancuso N, Mu?oz-Hernandez LL, Herrera-Hernandez M, Tusi?-Luna MT, Aguilar-Salinas C, Pietil?inen KH, Pihlajam?ki J, Laakso M, Garske KM, Pajukanta P. PMID: 34340684; PMCID: PMC8327600.

Differential Mitochondrial Gene Expression in Adipose Tissue Following Weight Loss Induced by Diet or Bariatric Surgery. J Clin Endocrinol Metab. 2021 Apr 23; 106(5):1312-1324. van der Kolk BW, Muniandy M, Kaminska D, Alvarez M, Ko A, Miao Z, Valsesia A, Langin D, Vaittinen M, Pääkkönen M, Jokinen R, Kaye S, Heinonen S, Virtanen KA, Andersson DP, Männistö V, Saris WH, Astrup A, Rydén M, Blaak EE, Pajukanta P, Pihlajamäki J, Pietiläinen KH. PMID: 33560372; PMCID: PMC8063261.

Molecular pathways behind acquired obesity: Adipose tissue and skeletal muscle multiomics in monozygotic twin pairs discordant for BMI. Cell Rep Med. 2021 Apr 20; 2(4):100226. van der Kolk BW, Saari S, Lovric A, Arif M, Alvarez M, Ko A, Miao Z, Sahebekhtiari N, Muniandy M, Heinonen S, Oghabian A, Jokinen R, Jukarainen S, Hakkarainen A, Lundbom J, Kuula J, Groop PH, Tukiainen T, Lundbom N, Rissanen A, Kaprio J, Williams EG, Zamboni N, Mardinoglu A, Pajukanta P, Pietiläinen KH. PMID: 33948567; PMCID: PMC8080113.

Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease. Am J Hum Genet. 2021 03 04; 108(3):411-430. Selvarajan I, Toropainen A, Garske KM, L?pez Rodr?guez M, Ko A, Miao Z, Kaminska D, ?unap K, ?rd T, Ravindran A, Liu OH, Moreau PR, Jawahar Deen A, M?nnist? V, Pan C, Levonen AL, Lusis AJ, Heikkinen S, Romanoski CE, Pihlajam?ki J, Pajukanta P, Kaikkonen MU. PMID: 33626337; PMCID: PMC8008493.

Further evidence supporting a potential role for ADH1B in obesity. Sci Rep. 2021 Jan 21; 11(1):1932. Morales LD, Cromack DT, Tripathy D, Fourcaudot M, Kumar S, Curran JE, Carless M, Göring HHH, Hu SL, Lopez-Alvarenga JC, Garske KM, Pajukanta P, Small KS, Glastonbury CA, Das SK, Langefeld C, Hanson RL, Hsueh WC, Norton L, Arya R, Mummidi S, Blangero J, DeFronzo RA, Duggirala R, Jenkinson CP. PMID: 33479282; PMCID: PMC7820614.

Serum aromatic and branched-chain amino acids associated with NASH demonstrate divergent associations with serum lipids. Liver Int. 2021 Apr; 41(4):754-763. de Mello VD, Sehgal R, Männistö V, Klåvus A, Nilsson E, Perfilyev A, Kaminska D, Miao Z, Pajukanta P, Ling C, Hanhineva K, Pihlajamäki J. PMID: 33219609; PMCID: PMC8048463.

Protein Phosphatase 1 Regulatory Subunit 3B Genotype at rs4240624 Has a Major Effect on Gallbladder Bile Composition. Hepatol Commun. 2021 Feb; 5(2):244-257. Männistö V, Kaminska D, Käkelä P, Neuvonen M, Niemi M, Alvarez M, Pajukanta P, Romeo S, Nieuwdorp M, Groen AK, Pihlajamäki J. PMID: 33553972; PMCID: PMC7850313.

RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice. Nat Metab. 2020 10; 2(10):1113-1125. Karunakaran D, Turner AW, Duchez AC, Soubeyrand S, Rasheed A, Smyth D, Cook DP, Nikpay M, Kandiah JW, Pan C, Geoffrion M, Lee R, Boytard L, Wyatt H, Nguyen MA, Lau P, Laakso M, Ramkhelawon B, Alvarez M, Pietil?inen KH, Pajukanta P, Vanderhyden BC, Liu P, Berger SB, Gough PJ, Bertin J, Harper ME, Lusis AJ, McPherson R, Rayner KJ. PMID: 32989316; PMCID: PMC8362891.

The causal effect of obesity on prediabetes and insulin resistance reveals the important role of adipose tissue in insulin resistance. PLoS Genet. 2020 Sep; 16(9):e1009018. Miao Z, Alvarez M, Ko A, Bhagat Y, Rahmani E, Jew B, Heinonen S, Muñoz-Hernandez LL, Herrera-Hernandez M, Aguilar-Salinas C, Tusie-Luna T, Mohlke KL, Laakso M, Pietiläinen KH, Halperin E, Pajukanta P. PMID: 32925908; PMCID: PMC7515203.

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences. PLoS Genet. 2020 Sep; 16(9):e1009019. 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. PMID: 32915782; PMCID: PMC7511027.

Enhancing droplet-based single-nucleus RNA-seq resolution using the semi-supervised machine learning classifier DIEM. Sci Rep. 2020 07 03; 10(1):11019. Alvarez M, Rahmani E, Jew B, Garske KM, Miao Z, Benhammou JN, Ye CJ, Pisegna JR, Pietil?inen KH, Halperin E, Pajukanta P. PMID: 32620816; PMCID: PMC7335186.

Accurate estimation of cell composition in bulk expression through robust integration of single- cell information. Nat Commun. 2020 Apr 24; 11(1):1971. Jew B, Alvarez M, Rahmani E, Miao Z, Ko A, Garske KM, Sul JH, Pietiläinen KH, Pajukanta P, Halperin E. PMID: 32332754; PMCID: PMC7181686.

Efficient Estimation and Applications of Cross-Validated Genetic Predictions to Polygenic Risk Scores and Linear Mixed Models. J Comput Biol. 2020 04; 27(4):599-612. Mefford J, Park D, Zheng Z, Ko A, Ala-Korpela M, Laakso M, Pajukanta P, Yang J, Witte J, Zaitlen N. PMID: 32077750; PMCID: PMC7185352.

Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution. Hum Mol Genet. 2019 12 15; 28(24):4161-4172. 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. PMID: 31691812; PMCID: PMC7202621.

A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context. Nat Commun. 2019 10 21; 10(1):4788. Gallois A, Mefford J, Ko A, Vaysse A, Julienne H, Ala-Korpela M, Laakso M, Zaitlen N, Pajukanta P, Aschard H. PMID: 31636271; PMCID: PMC6803661.

Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits. Am J Hum Genet. 2019 10 03; 105(4):773-787. Raulerson CK, Ko A, Kidd JC, Currin KW, Brotman SM, Cannon ME, Wu Y, Spracklen CN, Jackson AU, Stringham HM, Welch RP, Fuchsberger C, Locke AE, Narisu N, Lusis AJ, Civelek M, Furey TS, Kuusisto J, Collins FS, Boehnke M, Scott LJ, Lin DY, Love MI, Laakso M, Pajukanta P, Mohlke KL. PMID: 31564431; PMCID: PMC6817527.

Novel Lipid Long Intervening Noncoding RNA, Oligodendrocyte Maturation-Associated Long Intergenic Noncoding RNA, Regulates the Liver Steatosis Gene Stearoyl-Coenzyme A Desaturase As an Enhancer RNA. Hepatol Commun. 2019 Oct; 3(10):1356-1372. Benhammou JN, Ko A, Alvarez M, Kaikkonen MU, Rankin C, Garske KM, Padua D, Bhagat Y, Kaminska D, K?rj? V, Pihlajam?ki J, Pisegna JR, Pajukanta P. PMID: 31592021; PMCID: PMC6771395.

Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans. Nat Metab. 2019 06; 1(6):630-642. Garske KM, Pan DZ, Miao Z, Bhagat YV, Comenho C, Robles CR, Benhammou JN, Alvarez M, Ko A, Ye CJ, Pisegna JR, Mohlke KL, Sinsheimer JS, Laakso M, Pajukanta P. PMID: 31538139; PMCID: PMC6752726.

Reverse GWAS: Using genetics to identify and model phenotypic subtypes. PLoS Genet. 2019 04; 15(4):e1008009. Dahl A, Cai N, Ko A, Laakso M, Pajukanta P, Flint J, Zaitlen N. PMID: 30951530; PMCID: PMC6469799.

Genetic and environmental perturbations lead to regulatory decoherence. Elife. 2019 03 05; 8. Lea A, Subramaniam M, Ko A, Lehtimäki T, Raitoharju E, Kähönen M, Seppälä I, Mononen N, Raitakari OT, Ala-Korpela M, Pajukanta P, Zaitlen N, Ayroles JF. PMID: 30834892; PMCID: PMC6400502.

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits. Am J Hum Genet. 2018 10 04; 103(4):535-552. Freund MK, Burch KS, Shi H, Mancuso N, Kichaev G, Garske KM, Pan DZ, Miao Z, Mohlke KL, Laakso M, Pajukanta P, Pasaniuc B, Arboleda VA. PMID: 30290150; PMCID: PMC6174356.