Department of General Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Hereditas. 2020 Jul 7;157(1):26. doi: 10.1186/s41065-020-00140-2.
Pelvic organ prolapse (POP) affects around 15% of postmenopausal women in China. Although it has been widely accepted that genetic variants could confer risk for POP, the genetic susceptibility variants remain largely unknown. Previous studies indicated that LAMC1, which encodes the laminin gamma 1 chain and is critical for extracellular matrix, might be a susceptibility gene for POP. The study is to test the correlation of common variants across the LAMC1 gene with POP susceptibility in Chinese population.
A total of 396 individuals, including 161 unrelated patients of POP and 235 healthy controls, were recruited. Ten SNPs, including rs20558, rs20563, rs10911193, rs6424889, rs10911241, rs3768617, rs12073936, rs729819, rs10911214 and rs869133, of LAMC1, were genotyped using standard Sanger sequencing. The UNPHASED program (version 3.1.5) was used to analyze the genotyping data for allelic and genotypic associations.
SNP rs10911241 was significantly associated with POP risk (χ = 10.70, P = 1.1 E-03). The minor allele (rs10911241-G) carriers exhibited an increased risk of the disease (OR = 1.71, 95% CI = 1.24-2.36).
Association of LAMC1 with POP risk in Chinese population strongly supported the involvement of LAMC1 in POP development.
盆腔器官脱垂（POP）影响了中国约 15%的绝经后妇女。尽管遗传变异可能会增加 POP 的风险已被广泛接受，但遗传易感性变异仍知之甚少。先前的研究表明，编码层粘连蛋白γ 1 链的 LAMC1 对于细胞外基质至关重要，可能是 POP 的易感基因。本研究旨在检测 LAMC1 基因内常见变异与中国人群 POP 易感性的相关性。
共招募了 396 名个体，包括 161 名无关的 POP 患者和 235 名健康对照者。对 LAMC1 中的 10 个 SNP（rs20558、rs20563、rs10911193、rs6424889、rs10911241、rs3768617、rs12073936、rs729819、rs10911214 和 rs869133）进行基因分型，使用标准 Sanger 测序。使用 UNPHASED 程序（版本 3.1.5）分析基因分型数据以进行等位基因和基因型关联分析。
SNP rs10911241 与 POP 风险显著相关（χ²=10.70，P=1.1 E-03）。携带次要等位基因（rs10911241-G）的个体患该病的风险增加（OR=1.71，95%CI=1.24-2.36）。
LAMC1 与中国人群 POP 风险的关联强烈支持 LAMC1 参与 POP 的发生发展。
