Kim Sung Hoon, Choi Young Min, Lee Gyoung Hoon, Hong Min A, Lee Kyu Sup, Lee Byung Seok, Kim Jung Gu, Moon Shin Yong
Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, and Youngdong Severance Hospital, Republic of Korea.
Hum Reprod. 2007 Jul;22(7):1866-70. doi: 10.1093/humrep/dem112. Epub 2007 May 18.
This study was performed to determine whether genetic polymorphisms of aryl hydrocarbon receptor repressor (AhRR), glutathione-S-transferase M1 (GSTM1) and glutathione-S-transferase T1 (GSTT1) are associated with susceptibility to advanced stage endometriosis in a Korean population.
This study comprised 316 women with advanced stage endometriosis and 256 control women without endometriosis. Genotyping of the AhRR codon 185 was performed by real-time polymerase chain reaction (PCR) analysis. GSTM1 and GSTT1 genotyping for gene deletions were carried out by multiplex PCR analysis.
G allele frequency at codon 185 of AhRR was increased in patients with endometriosis (P=0.047), and there was a trend for an association of C/G+G/G genotypes with risk of endometriosis (P=0.06). The proportion of null mutation at GSTT1 also tended to increase (P=0.06) in patients with endometriosis, whereas there was no difference in the genotype distribution of GSTM1 genes. Analyzing AhRR and GSTT1 together, we found that patients with high-risk genotypes at both loci have increased risk of endometriosis, compared with patients without high-risk genotypes (P=0.015).
These findings suggest that the AhRR codon 185 and GSTT1 polymorphisms are associated with the risk of advanced stage endometriosis.
本研究旨在确定芳烃受体阻遏蛋白（AhRR）、谷胱甘肽 - S - 转移酶M1（GSTM1）和谷胱甘肽 - S - 转移酶T1（GSTT1）的基因多态性是否与韩国人群中晚期子宫内膜异位症的易感性相关。
本研究纳入了316例晚期子宫内膜异位症女性和256例无子宫内膜异位症的对照女性。通过实时聚合酶链反应（PCR）分析对AhRR密码子185进行基因分型。通过多重PCR分析对GSTM1和GSTT1基因缺失进行基因分型。
子宫内膜异位症患者中AhRR密码子185处的G等位基因频率增加（P = 0.047），并且C/G + G/G基因型与子宫内膜异位症风险的关联有一定趋势（P = 0.06）。子宫内膜异位症患者中GSTT1基因无效突变的比例也有增加趋势（P = 0.06），而GSTM1基因的基因型分布没有差异。综合分析AhRR和GSTT1，我们发现与无高危基因型的患者相比，两个位点均为高危基因型的患者患子宫内膜异位症的风险增加（P = 0.015）。
这些发现表明AhRR密码子185和GSTT1基因多态性与晚期子宫内膜异位症的风险相关。
