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Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.
Lona-Durazo F, Hernandez-Pacheco N, Fan S, Zhang T, Choi J, Kovacs MA, Loftus SK, Le P, Edwards M, Fortes-Lima CA, Eng C, Huntsman S, Hu D, Gómez-Cabezas EJ, Marín-Padrón LC, Grauholm J, Mors O, Burchard EG, Norton HL, Pavan WJ, Brown KM, Tishkoff S, Pino-Yanes M, Beleza S, Marcheco-Teruel B, Parra EJ. Lona-Durazo F, et al. Among authors: kovacs ma. BMC Genet. 2019 Jul 17;20(1):59. doi: 10.1186/s12863-019-0765-5. BMC Genet. 2019. PMID: 31315583 Free PMC article.
Loci associated with skin pigmentation identified in African populations.
Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program; Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Crawford NG, et al. Among authors: kovacs ma. Science. 2017 Nov 17;358(6365):eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12. Science. 2017. PMID: 29025994 Free PMC article.
Investigating the genetic architecture of eye colour in a Canadian cohort.
Lona-Durazo F, Thakur R, Pairo-Castineira E, Funderburk K, Zhang T, Kovacs MA, Choi J, Jackson IJ, Brown KM, Parra EJ. Lona-Durazo F, et al. Among authors: kovacs ma. iScience. 2022 May 30;25(6):104485. doi: 10.1016/j.isci.2022.104485. eCollection 2022 Jun 17. iScience. 2022. PMID: 35712076 Free PMC article.
Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.
Zhang T, Choi J, Kovacs MA, Shi J, Xu M; NISC Comparative Sequencing Program; Melanoma Meta-Analysis Consortium; Goldstein AM, Trower AJ, Bishop DT, Iles MM, Duffy DL, MacGregor S, Amundadottir LT, Law MH, Loftus SK, Pavan WJ, Brown KM. Zhang T, et al. Among authors: kovacs ma. Genome Res. 2018 Nov;28(11):1621-1635. doi: 10.1101/gr.233304.117. Epub 2018 Oct 17. Genome Res. 2018. PMID: 30333196 Free PMC article.
Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms.
Zhang T, Choi J, Dilshat R, Einarsdóttir BÓ, Kovacs MA, Xu M, Malasky M, Chowdhury S, Jones K, Bishop DT, Goldstein AM, Iles MM, Landi MT, Law MH, Shi J, Steingrímsson E, Brown KM. Zhang T, et al. Among authors: kovacs ma. Am J Hum Genet. 2021 Sep 2;108(9):1631-1646. doi: 10.1016/j.ajhg.2021.06.018. Epub 2021 Jul 21. Am J Hum Genet. 2021. PMID: 34293285 Free PMC article.
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR.
Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson ME, Wells AD, Michael HT, Bunda P, Jones K, Higson H, Hennessey RC, Jermusyk A, Kovacs MA, Landi MT, Iles MM, Goldstein AM; Melanoma Meta-Analysis Consortium; Choi J, Chanock SJ, Grant SFA, Chari R, Merlino G, Law MH, Brown KM. Xu M, et al. Among authors: kovacs ma. Am J Hum Genet. 2021 Sep 2;108(9):1611-1630. doi: 10.1016/j.ajhg.2021.07.002. Epub 2021 Aug 2. Am J Hum Genet. 2021. PMID: 34343493 Free PMC article.
A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF.
Choi J, Xu M, Makowski MM, Zhang T, Law MH, Kovacs MA, Granzhan A, Kim WJ, Parikh H, Gartside M, Trent JM, Teulade-Fichou MP, Iles MM, Newton-Bishop JA, Bishop DT, MacGregor S, Hayward NK, Vermeulen M, Brown KM. Choi J, et al. Among authors: kovacs ma. Nat Genet. 2017 Sep;49(9):1326-1335. doi: 10.1038/ng.3927. Epub 2017 Jul 31. Nat Genet. 2017. PMID: 28759004 Free article.
Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.
Choi J, Zhang T, Vu A, Ablain J, Makowski MM, Colli LM, Xu M, Hennessey RC, Yin J, Rothschild H, Gräwe C, Kovacs MA, Funderburk KM, Brossard M, Taylor J, Pasaniuc B, Chari R, Chanock SJ, Hoggart CJ, Demenais F, Barrett JH, Law MH, Iles MM, Yu K, Vermeulen M, Zon LI, Brown KM. Choi J, et al. Among authors: kovacs ma. Nat Commun. 2020 Jun 1;11(1):2718. doi: 10.1038/s41467-020-16590-1. Nat Commun. 2020. PMID: 32483191 Free PMC article.
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.
Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R; PanScan Consortium; TRICL Consortium; GenoMEL Consortium; Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT. Fang J, et al. Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034. Nat Commun. 2017. PMID: 28447668 Free PMC article.
35 results