Below are the most recent publications written about "Genetic Predisposition to Disease" by people in Profiles.
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Prizment A, Standafer A, Qu C, Beutel KM, Wang S, Huang WY, Lindblom A, Pearlman R, Van Guelpen B, Wolk A, Buchanan DD, Grant RC, Schmit SL, Platz EA, Joshu CE, Couper DJ, Peters U, Starr TK, Scott P, Pankratz N. Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer. Hum Mol Genet. 2025 Mar 20; 34(7):617-625.
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Rayinda T, Dand N, McSweeney SM, Christou E, Ung CY, Stefanato CM, Fenton DA, Harries M, Palamaras I, Tidman A, Holmes S, Koutalopoulou A, Ardern-Jones M, Kaur M, Papanikou S, Chasapi V, Va??-Galvan S, Saceda-Corralo D, Meli?n-Olivera A, Azcarraga-Llobet C, Lobato-Berezo A, Bustamante M, Sunyer J, Starace MVR, Piraccini BM, Wiss IP, Senna MM, Singh R, Hillmann K, Kanti-Schmidt V, Blume-Peytavi U, McGrath JA, Simpson MA, Tziotzios C. Epistasis of ERAP1 With 4 Major Histocompatibility Complex Class I Alleles in Frontal Fibrosing Alopecia: A Genome-Wide Association Study Meta-Analysis. JAMA Dermatol. 2025 Mar 01; 161(3):310-314.
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Ichikawa K, Adachi S, Takase-Minegishi K, Nakayama Y, Nagasawa Y, Iizuka Y, Maeda A, Hirahara L, Soejima Y, Ohashi T, Kunimoto H, Horita N, Yoshimi R, Kirino Y, Nakajima H. Distinct features of trisomy 8-associated autoinflammatory disease from Beh?et's disease: case series and systematic review. Clin Exp Rheumatol. 2025 Oct; 43(10):1718-1725.
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Qu HQ, Delfiner MS, Gangireddy C, Vaidya A, Nguyen K, Whitman IR, Wang J, Song J, Bristow MR, McTiernan CF, Gerhard GS, Hakonarson H, Feldman AM. Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry. J Mol Med (Berl). 2025 Feb; 103(2):175-185.
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Wu R, Gragnoli C. The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families. J Ovarian Res. 2024 Dec 05; 17(1):242.
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Shakroo YM, Seabury CA, Iczkowski KA, Nelson K, Qian J, Ramnani DM. Germline pathogenic variants in prostate cancer. Pathol Res Pract. 2024 Dec; 264:155718.
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Goparaju P, Gragnoli C. Implication of vasopressin receptor genes (AVPR1A and AVPR1B) in the susceptibility to polycystic ovary syndrome. J Ovarian Res. 2024 Nov 05; 17(1):214.
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Walker EC, Javati S, Todd EM, Matlam JP, Lin X, Bryant M, Krone E, Ramani R, Chandra P, Green TP, Anaya EP, Zhou JY, Alexander KA, Tong RS, Yuasi L, Boluarte S, Yang F, Greenberg L, Nerbonne JM, Greenberg MJ, Clemens RA, Philips JA, Wilson LD, Halabi CM, DeBosch BJ, Blyth CC, Druley TE, Kazura JW, Pomat WS, Morley SC. Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease. Nat Immunol. 2024 Dec; 25(12):2247-2258.
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Brody JR, Klein AP. The Pivotal Role of Germline BRCA2 Pathogenic Variants in "Apparently Sporadic" Pancreatic Cancer. Cancer Res. 2024 Sep 16; 84(18):2941-2943.
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d'Escamard V, Kadian-Dodov D, Ma L, Lu S, King A, Xu Y, Peng S, V Gangula B, Zhou Y, Thomas A, Michelis KC, Bander E, Bouchareb R, Georges A, Nomura-Kitabayashi A, Wiener RJ, Costa KD, Chepurko E, Chepurko V, Fava M, Barwari T, Anyanwu A, Filsoufi F, Florman S, Bouatia-Naji N, Schmidt LE, Mayr M, Katz MG, Hao K, Weiser-Evans MCM, Bj?rkegren JLM, Olin JW, Kovacic JC. Integrative gene regulatory network analysis discloses key driver genes of fibromuscular dysplasia. Nat Cardiovasc Res. 2024 Sep; 3(9):1098-1122.