Investigation of gene polymorphism in endometriosis development and impact of co-morbidity on endometriosis-related infertility

• Main Authors: Cherry Yin-Yi Chang, 張穎宜
• Other Authors: Fung-Chang Sung
• Format: Others
• Language: zh-TW
• Published: 2014
• Online Access: http://ndltd.ncl.edu.tw/handle/21942691119954205412

博士 === 中國醫藥大學 === 公共衛生學系博士班 === 102 === Endometriosis is a common gynecologic disease. Approximately, 10% females encounter the disease in their premenopausal ages. The common symptoms of endometriosis include pelvic pain, pelvic adhesion, infertility and abnormal menstruation. Approximatel 1% of endometriosis patients may subsequently develop ovarian cancer. However, the pathophysiology of endometriosis is unclear. Mucins (MUC) are high-molecular weight glycoproteins with function of lubricating and protecting epithelium and regarded to be related to modulation of immunity, reproduction and progress of tumor. Endometriosis and other comorbidities have been associated with infertility. At clinical settings, we recruited a group of women with endometriosis and a group of healthy women without the disease to investigate the association between endometriosis and polymorphisms of mucin-2 (MUC2) and mucin-4 (MUC4). Results showed that MUC2 polymorphisms, especially rs10794288 and rs10902088, were associated with endometriosis as well as endometriosis-related infertility (p = 0.030 and 0.013, respectively). In MUC4, both the T/G genotype of rs882605 and the frequency of haplotype T-T (rs882605 and rs1104760) were significantly higher in patients with endometriosis than in controls and were statistically significant (p = 0.04 and 0.035, respectively). The G allele at rs882605 was verified as a key genetic factor for infertility in patients. This dissertation work also performed a study using Taiwan insurance claims data to investigate the association between endometriosis and the risk of infertility with a cohort of 5088 women with endometriosis and 25440 women without the disease frequency matched by age and diagnosis year. The overall incidence density of infertility was 2.66 times higher in the endometriosis cohort than in the comparison cohort (15.04 vs. 5.65 per 1000 person-years). Pelvic inflammatory disease increased the risk of infertility with an adjusted hazard ratio (HR) of 2.15 (95% confidence interval (CI) = 1.81-2.56) and ectopic pregnancy increased the risk of infertility with an adjusted HR of 2.07 (95% CI = 1.31-3.27). In conclusion, MUC4 polymorphisms are associated with endometriosis development and endometriosis-related infertility in the Taiwanese population. Patients with endometriosis have higher risk to have infertility, pelvic inflammatory disease and ectopic pregnancy compared to the patients without endometriosis. In addition, the incidence of infertility is increased if patient with endometriosis has comorbidity of pelvic inflammatory disease or ectopic pregnancy.