Abstract
ObjectiveCollagen and elastin are the main components of the female pelvic tissue. We investigated whether single nucleotide polymorphisms (SNPs) of collagen type 1 alpha 1 (COL1A1), collagen type 3 alpha 1 (COL3A1), and lysyl oxidase-like (LOXL) 1 and 4 were associated with the onset of pelvic organ prolapse (POP) in Japanese women. Fifty-two women with POP and 28 women without POP were included. SNPs were identified using the TaqMan® SNP genotyping assay.ResultsAge, parity, and lower urinary tract symptoms were significantly higher in the POP group than in the control group. The prevalence of genotypes with rs2862296 polymorphism of LOXL4, an enzyme essential for extracellular matrix remodeling, was different between the POP (26.9% for GG, 51.9% for AG) and control groups (14.8% for GG, 33.3% for AG). However, polymorphisms of COL1A1, COL3A1, and LOXL1 were not related to the onset of POP. In the multivariate logistic regression analysis, age was significantly associated with the occurrence of POP. In the univariate analysis, LOXL4 polymorphism was associated with the onset of POP in Japanese women. The knowledge of acquired risk factors and polymorphisms in the genomic background of patients with POP may help prevent POP via early conservative interventions.
Highlights
Pelvic organ prolapse (POP)—herniation of the pelvic organs—is a common disease in the elderly and middleaged women
Polymorphisms of collagen type 1 alpha 1 (COL1A1), collagen type 3 alpha 1 (COL3A1), and LOXL1 were not related to the onset of POP
LOXL4 polymorphism was associated with the onset of POP in Japanese women
Summary
The prevalence of the CC genotype in the rs1800012 polymorphism of COL1A1 was 100% in both POP and control groups. For the rs1800255 polymorphism of COL3A1 in the POP group, the genotypic prevalence was 11.5% for AA, 48.1% for AG, and 40.4% for GG (Table 2). The genotypic frequency of COL3A1 did not differ between the POP and control groups. The genotypic frequency of rs2862296 (AA, AG, and GG) of LOXL4 was significantly different between the POP and control groups (P = 0.0204). In the multivariate logistic regression analysis, age was an independent risk factor associated with the occurrence of POP (OR = 4.56, 95% CI: 1.56–15.6, P = 0.006); LOXL4 was not an independent risk factor (P = 0.172) (Table 3)
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