Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma.
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Dong Jing, Maj Carlo, Tsavachidis Spiridon, Ostrom Quinn T, Gharahkhani Puya, Anderson Lesley A, Wu Anna H, Ye Weimin, Bernstein Leslie, Borisov Oleg, Schröder Julia, Chow Wong-Ho, Gammon Marilie D, Liu Geoffrey, Caldas Carlos, Pharoah Paul D, Risch Harvey A, May Andrea, Gerges Christian, Anders Mario, Venerito Marino, Schmidt Thomas, Izbicki Jakob R, Hölscher Arnulf H, Schumacher Brigitte, Vashist Yogesh, Neuhaus Horst, Rösch Thomas, Knapp Michael, Krawitz Peter, Böhmer Anne, Iyer Prasad G, Reid Brian J, Lagergren Jesper, Shaheen Nicholas J, Corley Douglas A, Gockel Ines, Fitzgerald Rebecca C, Stomach and Oesophageal Cancer Study (SOCS) consortium, Cook Michael B, Whiteman David C, Vaughan Thomas L, Schumacher Johannes, Thrift Aaron P
Аннотация
METHODS: Given strong genetic overlap, BE and EA cases were combined into a single case group for analysis. These were compared with population-based controls. We performed sex-specific GWAS of BE/EA in 3 separate studies and then used fixed-effects meta-analysis to provide summary estimates for >9 million variants for male and female individuals. A series of downstream analyses were conducted separately in male and female individuals to identify genes associated with BE/EA and the genetic correlations between BE/EA and other traits.
RESULTS: We included 6758 male BE/EA cases, 7489 male controls, 1670 female BE/EA cases, and 6174 female controls. After Bonferroni correction, our meta-analysis of sex-specific GWAS identified 1 variant at chromosome 6q11.1 (rs112894788, KHDRBS2-MTRNR2L9, PBONF = .039) that was statistically significantly associated with BE/EA risk in male individuals only, and 1 variant at chromosome 8p23.1 (rs13259457, PRSS55-RP1L1, PBONF = 0.057) associated, at borderline significance, with BE/EA risk in female individuals only. We also observed strong genetic correlations of BE/EA with gastroesophageal reflux disease in male individuals and obesity in female individuals.
CONCLUSIONS: The identified novel sex-specific variants associated with BE/EA could improve the understanding of the genetic architecture of the disease and the reasons for the male predominance.