Case-control based study between polymorphisms in the adiponectin gene and polycystic ovary syndrome / 中华妇产科杂志

ABSTRACT

Objective To investigate the frequeney of four single nucleotide polymorphism (SNP) sites (rs17300539, rs12495941, rs2241766 and rs1501299) of adiponectin gene (ADIPOQ) and to elucidate its role in the pathogenesis of polycystic ovary syndrome (PCOS).Methods A total of 207 women with PCOS and 192 controls were recruited.Four ml whole-blood samples were collected in tubes containing ethylene diamine tetraacetic acid (EDTA) by peripheral venous puncture.Genomic DNA was extracted using a QIAamp DNA mini kit.Four SNP sites (rs17300539, rs12495941, rs2241766 and rs1501299) of ADIPOQ were amplified by PCR and then directly sequenced to screen variants.Results (1) The genotype frequencies of AA of rs17300539 in PCOS was significantly higher than controls [57.5％ (119/207) versus 48.4％ (93/192), P＜0.05].The genotype frequencies of AA of rs1501299 in PCOS was significantly lower than controls [4.8％ (10/207) versus 11.5％ (22/192), P＜0.05].While no significant differences were found in rs2241766 and rs12495941 (P＞0.05).(2) The allele A of rs17300539 [75.8％ (314/414)] and allele C frequeneies of rs1501299 [76.3％ (316/414)] in PCOS were significantly higher than controls [67.7％ (260/ 384), 69.0％ (265/384), respectively;all P＜0.05].While no significant differences were found in rs2241766 and rs12495941 (P＞0.05).(3) Further analysis we found rs17300539 AA genotypes had an increased risk for PCOS compared with GG genotype (OR=2.670, P=0.009), rs1501299 CC genotype had an increased risk for PCOS compared with AA genotypes (OR=2.756, P=0.012);and the difference remained significantly after adjustment for age, testosterone and body mass index (P＜0.05).Conclusions No signifi cant differences were observed in genotype and allele frequencies between PCOS and controls for rs2241766 and rs12495941.However, we observed an association between rs17300539, rs1501299 and PCOS.rs17300539 and rs1501299 of ADIPOQ perhaps are the susceptibility gene locus of PCOS.