Morizane Mayumi, Yoshida Shigeki, Nakago Satoshi, Hamana Shinya, Maruo Takeshi, Kennedy Stephen
Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan.
J Soc Gynecol Investig. 2004 Feb;11(2):118-21. doi: 10.1016/j.jsgi.2003.07.009.
Endometriosis is inherited as a complex trait, which means that multiple susceptibility genes interact with each other and with environmental factors to produce the phenotype. We investigated the frequency of glutathione S-transferase M1 and T1 (GSTM1 and GSTT1) null mutations in women with endometriosis in a Japanese population.
One hundred fourteen unrelated women with endometriosis were enrolled. Samples of umbilical cord blood obtained from 179 female newborn infants were used as population controls. Genomic DNA isolated from endometriosis patients and controls were subjected to multiple polymerase chain reactions to determine the GSTM1 and GSTT1 genotypes.
There were no significant differences in the frequencies of the GSTM1 (P = .83, odds ratio 0.95) and GSTT1 (P = .24, odds ratio 0.75) null mutations between endometriosis patients and controls. The endometriosis group was divided into a subgroup of stage IV disease only, but no statistically significant differences were observed in the frequency of the GSTM1 null mutation (P = .88, odds ratio 0.96, 95% confidence interval 0.57-1.63) and the GSTT1 null mutation (P = .33, odds ratio 0.77, 95% confidence interval 0.45-1.30) between any of these groups and the controls.
These findings suggest that the GSTM1 and GSTT1 null mutations are not likely to be associated with an increased risk of endometriosis in a Japanese population.
子宫内膜异位症作为一种复杂性状遗传,这意味着多个易感基因相互作用,并与环境因素相互作用以产生该表型。我们调查了日本人群中患有子宫内膜异位症的女性中谷胱甘肽S-转移酶M1和T1(GSTM1和GSTT1)无效突变的频率。
招募了114名无亲缘关系的患有子宫内膜异位症的女性。从179名女性新生儿获得的脐带血样本用作人群对照。从子宫内膜异位症患者和对照中分离的基因组DNA进行多重聚合酶链反应以确定GSTM1和GSTT1基因型。
子宫内膜异位症患者和对照之间GSTM1(P = 0.83,优势比0.95)和GSTT1(P = 0.24,优势比0.75)无效突变的频率没有显著差异。子宫内膜异位症组仅分为IV期疾病亚组,但在这些组中的任何一组与对照之间,GSTM1无效突变(P = 0.88,优势比0.96,95%置信区间0.57-1.63)和GSTT1无效突变(P = 0.33,优势比0.77,95%置信区间0.45-1.30)的频率没有观察到统计学上的显著差异。
这些发现表明,在日本人群中,GSTM1和GSTT1无效突变不太可能与子宫内膜异位症风险增加相关。