Androgen receptor cytosine, adenine, and guanine trinucleotide repeat polymorphism in Korean patients with endometriosis: A case-control study

作者：Shin Jae Jun; Choi Young Min^*; Choi Hwa Young; Chae Soo Jin; Hwang Kyuri; Kim Jin Ju; Lee Gyoung Hoon; Kim Jong Mi

来源：European Journal of Obstetrics & Gynecology and Reproductive Biology, 2017, 218: 1-4.

DOI：10.1016/j.ejogrb.2017.09.005

• Endometriosis
• Androgen receptor
• Trinucleotide repeats
• Genetic polymorphism
• Alleles

Study objective: : To investigate the association between the androgen receptor (AR) cytosine, adenine, and guanine (CAG) repeat polymorphisms and endometriosis.
Study design: : A prospective case-control, genetic association study was performed on women with surgically proven endometriosis (n = 421) and controls free of endometriosis (n=349). AR CAG repeat lengths were determined from peripheral blood samples. The difference in the frequency of each alleles were compared in patients with endometriosis and controls using Chi-square test.
Main results: : No significant difference in biallelic length mean between patients and controls was observed. Alleles containing 24 CAG repeats were significantly more frequent in stage I-II (mild) endometriosis than in the control samples (19.8% and 13.3%, respectively; OR 1.60, 95% CI 1.04-2.47). Additionally, a higher frequency of both alleles with 24 or more CAG repeats was observed in individuals with mild endometriosis, in comparison with the controls (25.6% and 15.2%, respectively; OR 1.92, 95% CI 1.09-3.38).
Conclusions: AR gene CAG repeat polymorphisms are associated with the increased risk of mild endometriosis.

• 出版日期2017-11