Abstract

BackgroundPelvic 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.MethodsA 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.ResultsSNP rs10911241 was significantly associated with POP risk (χ2 = 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).ConclusionAssociation of LAMC1 with POP risk in Chinese population strongly supported the involvement of LAMC1 in POP development.

Highlights

  • Pelvic organ prolapse (POP) is a major health concern for women in menopausal period, greatly impair overall quality of life (QoL) [1]

  • Several genes of extracellular matrix (ECM) have been reported to be associated with POP though association study and linkage analysis, such as MMP-1, MMP-3, MMP-9 [9], COLIA1 and LAMC1 [10]

  • In contrast to the extensive studies in European and American populations, whether LAMC1 was associated with POP risk in Chinese population remains to be investigated

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Summary

Introduction

Pelvic organ prolapse (POP) is a major health concern for women in menopausal period, greatly impair overall quality of life (QoL) [1]. Though many studies have been conducted to unravel the molecular basis of POP, the underlying pathophysiology mechanisms remain largely unknown Both environmental factors, including vaginal parity, advancing age, obesity, prior surgery and hormonal status, and genetic variants have been reported to contribute to increased risk of POP [4]. LAMC1, which encodes the laminin gamma 1 chain and is critical for ECM, has been investigated for association with POP in European and American populations. In contrast to the extensive studies in European and American populations, whether LAMC1 was associated with POP risk in Chinese population remains to be investigated. 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

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