Two MMP2 gene polymorphisms significantly associated with polycystic ovary syndrome: A case-control analysis

To study the association between MMP2 gene polymorphisms (rs7201 and rs243849) and polycystic ovary syndrome (PCOS) risk.

1287 participants, including 592 PCOS and 623 controls, were collected. In analysis, six genotype models (dominant model: MM + MW vs. WW; recessive model: MM vs. MW + WW; over-dominant model: MM + WW vs. MW; co-dominant model: MM vs. MW; co-dominant model: MM vs. WW; allele analysis: M vs. W, where M: minor allele; W: major allele) were applied. Subgroup analyses were performed based on race and obesity.

In the whole sample, only rs7201 was identified to protect from the PCOS (unadjusted: Recessive MM vs MW + WW, OR = 0.551, 95%CI = 0.311-0.974, P = 0.040; co-dominant MM vs WW, OR = 0.541, 95%CI = 0.304-0.964, P = 0.037). Subgroup analysis also identified rs243849 to be significantly associated with PCOS risk in the Han race (unadjusted: co-dominant MM vs WW, OR = 0.383, 95%CI = 0.153-0.961, P = 0.041; Allele M vs W, OR = 0.729, 95%CI = 0.553-0.963, P = 0.026). Moreover, rs243849 could regulate prominently MMP2 gene expression. However, no statistical significances were identified in the obesity groups (body mass Index and waist-hip ratio).

We identified for the first time that both rs7201 and rs243849 of MMP2 could protect from PCOS. Further studies with larger samples are needed to confirm the conclusion.