UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published nine papers during September 6-19, 2020.

 

 

  Methylome-wide association study of central adiposity implicates genes involved in immune and endocrine systems. 

Justice AE, Chittoor G, Gondalia R, Melton PE, Lim E, Grove ML, Whitsel EA, Liu CT, Cupples LA, Fernandez-Rhodes L, Guan W, Bressler J, Fornage M, Boerwinkle E, Li Y, Demerath E, Heard-Costa N, Levy D, Stewart JD, Baccarelli A, Hou L, Conneely K, Mori TA, Beilin LJ, Huang RC, Gordon-Larsen P, Howard AG, North KE.

Epigenomics. 2020 Sep 9. doi: 10.2217/epi-2019-0276. Online ahead of print.

PMID: 32901515

 

  The Polygenic and Monogenic Basis of Blood Traits and Diseases. 

Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen MH, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K, Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Ghanbari M, Völker U, Völzke H, Watkins NA, Weiss S; VA Million Veteran Program, Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle WJ, Reiner AP, Butterworth AS, Ouwehand WH, Lettre G, Sankaran VG, Soranzo N.

Cell. 2020 Sep 3;182(5):1214-1231.e11. doi: 10.1016/j.cell.2020.08.008.

PMID: 32888494

 

  Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. 

Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Lerch MM, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, Völker U, Völzke H, Watkins NA, Zonderman AB; VA Million Veteran Program, Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G.

Cell. 2020 Sep 3;182(5):1198-1213.e14. doi: 10.1016/j.cell.2020.06.045.

PMID: 32888493

 

  Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome. 

Harner MK, Lichtenstein M, Farrell M, Dietterich TE, Filmyer DM, Bruno LM, Biondi TF, Crowley JJ, Lázaro-Muñoz G, Stowe R, Shaughnessy RA, Berg JS, Szatkiewicz J, Sullivan PF, Josiassen RC.

Schizophr Res. 2020 Sep 14:S0920-9964(20)30440-0. doi: 10.1016/j.schres.2020.08.012. Online ahead of print.

PMID: 32943312

 

  Gut microbiota, NLR proteins, and intestinal homeostasis. 

Guo H, Gibson SA, Ting JPY.

J Exp Med. 2020 Oct 5;217(10):e20181832. doi: 10.1084/jem.20181832.

PMID: 32941596

 

  The causal effect of obesity on prediabetes and insulin resistance reveals the important role of adipose tissue in insulin resistance. 

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.

PLoS Genet. 2020 Sep 14;16(9):e1009018. doi: 10.1371/journal.pgen.1009018. Online ahead of print.

PMID: 32925908

 

  Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity. 

Yaghootkar H, Zhang Y, Spracklen CN, Karaderi T, Huang LO, Bradfield J, Schurmann C, Fine RS, Preuss MH, Kutalik Z, Wittemans LB, Lu Y, Metz S, Willems SM, Li-Gao R, Grarup N, Wang S, Molnos S, Sandoval-Zárate AA, Nalls MA, Lange LA, Haesser J, Guo X, Lyytikäinen LP, Feitosa MF, Sitlani CM, Venturini C, Mahajan A, Kacprowski T, Wang CA, Chasman DI, Amin N, Broer L, Robertson N, Young KL, Allison M, Auer PL, Blüher M, Borja JB, Bork-Jensen J, Carrasquilla GD, Christofidou P, Demirkan A, Doege CA, Garcia ME, Graff M, Guo K, Hakonarson H, Hong J, Ida Chen YD, Jackson R, Jakupović H, Jousilahti P, Justice AE, Kähönen M, Kizer JR, Kriebel J, LeDuc CA, Li J, Lind L, Luan J, Mackey D, Mangino M, Männistö S, Martin Carli JF, Medina-Gomez C, Mook-Kanamori DO, Morris AP, de Mutsert R, Nauck M, Nedeljkovic I, Pennell CE, Pradhan AD, Psaty BM, Raitakari OT, Scott RA, Skaaby T, Strauch K, Taylor KD, Teumer A, Uitterlinden AG, Wu Y, Yao J, Walker M, North KE, Kovacs P, Ikram MA, van Duijn CM, Ridker PM, Lye S, Homuth G, Ingelsson E, Spector TD, McKnight B, Province MA, Lehtimäki T, Adair LS, Rotter JI, Reiner AP, Wilson JG, Harris TB, Ripatti S, Grallert H, Meigs JB, Salomaa V, Hansen T, Willems van Dijk K, Wareham NJ, Grant SF, Langenberg C, Frayling TM, Lindgren CM, Mohlke KL, Leibel RL, Loos RJ, Kilpeläinen TO.

Diabetes. 2020 Sep 11:db200070. doi: 10.2337/db20-0070. Online ahead of print.

PMID: 32917775

 

  Alignment and mapping methodology influence transcript abundance estimation. 

Srivastava A, Malik L, Sarkar H, Zakeri M, Almodaresi F, Soneson C, Love MI, Kingsford C, Patro R.

Genome Biol. 2020 Sep 7;21(1):239. doi: 10.1186/s13059-020-02151-8.

PMID: 32894187

 

  Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. 

van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville BR, Semrud-Clikeman M, Wang R, Shapiro E.

Mol Genet Metab. 2020 Aug 31:S1096-7192(20)30189-X. doi: 10.1016/j.ymgme.2020.08.007. Online ahead of print.

PMID: 32917509