Association of the CYP19 gene polymorphism with genetic susceptibility to endometriosis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate whether the 115T/C, 240A/G and 1531C/T polymorphisms of CYP19 gene are associated with the risk of moderate/severe endometriosis.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to identify the CYP19 gene polymorphism in Chinese patients with endometriosis of III-IV stage (n= 102) and individuals without endometriosis (n= 100).</p><p><b>RESULTS</b>The frequencies of CYP19 gene 115T/C, TT, TC and CC were 0.9118, 0.0882 and 0 in the endometriosis group, and 0.8800, 0.1100 and 0.0100 in the control group, respectively. The frequencies of 115T and C alleles in both groups were 0.9559 and 0.0441, and 0.9350 and 0.0650, respectively (P> 0.05). The frequencies of CYP19 gene 240AA, AG and GG were 0.2745, 0.4902 and 0.2353 in the endometriosis group, and 0.4500, 0.4100 and 0.1400 in the control group, respectively. The frequencies of 240A and G alleles in both groups were 0.5196 and 0.4804, and 0.6550 and 0.3450, respectively (P< 0.05). The frequencies of CYP19 gene 1531C/T, CC, CT and TT were 0.4118, 0.4706 and 0.1176 in the endometriosis group, and 0.3800, 0.4200 and 0.200 in the control group, respectively. The frequencies of 1531C and T alleles in both groups were 0.6471 and 0.3529, and 0.5900 and 0.4100, respectively (P> 0.05).</p><p><b>CONCLUSION</b>CYP19 gene 240G/G polymorphism may contribute to the susceptibility of stages III and IV endometriosis but there was no association between CYP19 gene 115T/C and 1531C/T polymorphisms and stage III and IV endometriosis.</p>