韩国子宫内膜异位症患者雄激素受体胞嘧啶、腺嘌呤和鸟嘌呤三核苷酸重复多态性：一项病例对照研究。

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

作者信息

Shin Jae Jun, Choi Young Min, Choi Hwa Young, Chae Soo Jin, Hwang Kyuri, Kim Jin Ju, Lee Gyoung Hoon, Kim Jong Mi

机构信息

Department of Obstetrics and Gynecology, Kyung Hee University Hospital at Gangdong, 892, Dongnam-ro, Gangdong-gu, Seoul 05278, South Korea; Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehakro Chongno-gu, Seoul 03080, South Korea.

Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehakro Chongno-gu, Seoul 03080, South Korea; The Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, 103 Daehakro Chongno-gu, Seoul 03080, South Korea.

出版信息

Eur J Obstet Gynecol Reprod Biol. 2017 Nov;218:1-4. doi: 10.1016/j.ejogrb.2017.09.005. Epub 2017 Sep 8.

DOI:10.1016/j.ejogrb.2017.09.005

PMID:28915409

Abstract

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.

摘要

研究目的

探讨雄激素受体（AR）胞嘧啶、腺嘌呤和鸟嘌呤（CAG）重复多态性与子宫内膜异位症之间的关联。

研究设计

对经手术证实患有子宫内膜异位症的女性（n = 421）和无子宫内膜异位症的对照女性（n = 349）进行了一项前瞻性病例对照基因关联研究。从外周血样本中确定AR CAG重复长度。使用卡方检验比较子宫内膜异位症患者和对照中每个等位基因频率的差异。

主要结果

患者和对照之间的双等位基因长度平均值未观察到显著差异。在I-II期（轻度）子宫内膜异位症患者中，含有24个CAG重复的等位基因频率显著高于对照样本（分别为19.8%和13.3%；OR 1.60，95% CI 1.04 - 2.47）。此外，与对照相比，轻度子宫内膜异位症患者中CAG重复数为24个或更多的两个等位基因频率更高（分别为25.6%和15.2%；OR 1.92，95% CI 1.09 - 3.38）。