Department of Obstetrics and Gynecology, Division of Urogynecology, Duke University, Durham, NC, USA.
Am J Obstet Gynecol. 2012 May;206(5):447.e1-6. doi: 10.1016/j.ajog.2012.01.033. Epub 2012 Jan 31.
We sought to comprehensively evaluate the association of laminin gamma-1 (LAMC1) and advance pelvic organ prolapse.
We conducted a candidate gene association of patients (n = 239) with stages III-IV prolapse and controls (n = 197) with stages 0-I prolapse. We used a linkage disequilibrium (LD)-tagged approach to identify single-nucleotide polymorphisms (SNPs) in LAMC1 and focused on non-Hispanic white women to minimize population stratification. Additive and dominant multivariable logistic regression models were used to test for association between individual SNPs and advanced prolapse.
Fourteen SNPs representing 99% coverage of LAMC1 were genotyped. There was no association between SNP rs10911193 and advanced prolapse (P = .34). However, there was a trend toward significance for SNPs rs1413390 (P = .11), rs20563 (P = .11), and rs20558 (P = .12).
Although we found that the previously reported LAMC1 SNP rs10911193 was not associated with nonfamilial prolapse, our results support further investigation of this candidate gene in the pathophysiology of prolapse.
我们旨在全面评估层粘连蛋白 γ-1(LAMC1)与盆腔器官脱垂的相关性。
我们对 III-IV 期脱垂患者(n=239)和 0-I 期脱垂对照者(n=197)进行了候选基因关联研究。我们采用连锁不平衡(LD)标记方法鉴定 LAMC1 中的单核苷酸多态性(SNP),并重点关注非西班牙裔白人女性,以最大程度减少人群分层。采用加性和显性多变量逻辑回归模型,检验个体 SNP 与晚期脱垂之间的相关性。
共对 14 个代表 LAMC1 99%覆盖范围的 SNP 进行了基因分型。SNP rs10911193 与晚期脱垂之间无关联(P=0.34)。然而,SNP rs1413390(P=0.11)、rs20563(P=0.11)和 rs20558(P=0.12)存在显著趋势。
尽管我们发现先前报道的 LAMC1 SNP rs10911193 与非家族性脱垂无关,但我们的结果支持进一步研究该候选基因在脱垂病理生理学中的作用。