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Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse

Menopause Feb 06, 2020

Li L, et al. - Via conducting this candidate gene association study of case women (n = 48) with stage III and IV prolapse and control women (n = 48) without prolapse, researchers investigated the single-nucleotide polymorphisms (SNPs) of six collagen-related genes (COL14A1, COL5A1, COL4A2, COL3A1, COL1A1, and COL18A1) and the genetic correlation with pelvic organ prolapse (POP) in Chinese women. Using a target region sequencing approach, they recognized the SNPs in collagen-related genes and using Fisher exact tests for unadjusted model and logistic regression analysis adjusted for delivery and pregnancy, they determined the association between SNPs and POP. Outcomes revealed a significant association between COL14A1 SNPs (rs4870723, rs2305600, and rs2305598), a COL5A1 SNP (rs3827852), and COL4A2 SNPs (rs76425569, rs388222, rs2281968, and rs445348) and POP. This study is identified to be the first revealing the correlation between COL14A1, COL5A1, and COL4A2 polymorphisms and POP, besides COL3A1, COL1A1, and COL18A1, which have been reported previously. New evidence was thus generated in this work for further investigation of the involvement of these potential genes in the etiology of POP.
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