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首页> 外文期刊>Annals of Human Genetics >Influence of STAT4 gene polymorphisms in the pathogenesis of endometriosis
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Influence of STAT4 gene polymorphisms in the pathogenesis of endometriosis

机译：Stat4基因多态性在子宫内膜异位症发病机制中的影响

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The STAT4 gene is vital to signaling pathways in the immune response. Immunological alterations are involved in the pathogenesis of endometriosis, and STAT4 polymorphisms may be linked to disease development. This study's aim is to evaluate the possible association between four STAT4 polymorphisms (rs7601754/G > A, rs11889341/C > T, rs7574865/T > G, and rs7582694/C > G) and the pathogenesis of endometriosis in Brazilian women. This case-control study's sample comprised 238 women with endometriosis and 201 healthy, fertile women without endometriosis (which was surgically confirmed). Genotyping was performed using the TaqMan system with a real-time polymerase chain reaction; the genotype, allele, and haplotype frequencies were then compared between groups. A single-polymorphism analysis revealed that the TT genotype of the rs7574865/T > G polymorphism was significantly more frequent in women with minimal or mild endometriosis than in the controls (10% vs. 5%, p = 0.047). The CGAC, GTAT, and GTAC haplotypes were significantly more frequent in the women with endometriosis-related infertility (5.8%, 4.1%, and 2.9%, respectively) than in the controls (2.4%, 1.1%, and 0.8%, respectively; p = 0.020, p = 0.011, and p = 0.032, respectively), but the GGGC and CTAT haplotypes were significantly more prevalent in the control group (34.7% and 13.9%, respectively) than among the infertile group (26.2% and 9.1%, respectively). In addition, the CGAC haplotype was more frequently found in those with minimal or mild endometriosis (6.8%) than in the controls (2.4%, p = 0.009), and the GTAT haplotype was more commonly found in those with moderate or severe disease (3.6%) than in the controls (1.1%, p = 0.028). These findings suggest that STAT4 polymorphisms can influence the pathogenesis of endometriosis.
机译：Stat4基因对免疫应答中的信号通路至关重要。免疫改变参与子宫内膜异位症的发病机制，STAT4多态性可能与疾病发育有关。本研究的目的是评估四个STAT4多态性（RS7601754 / G> A，RS11889341 / c> T，RS7574865 / C> G和RS7582694 / C> G）的可能关联以及巴西女性的子宫内膜异位症的发病机制。这种案例对照研究的样品包含238名患有子宫内膜异位症的女性和201次健康的肥沃女性，没有子宫内膜异位症（其手术证实）。使用Taqman系统进行基因分型，具有实时聚合酶链式反应;然后比较基因型，等位基因和单倍型频率。单多态性分析表明，RS7574865 / T> G多态性的TT基因型在患有最小或轻度的子宫内膜异位症的女性中显着更频繁地比对照（10％对5％，P = 0.047）。患有子宫内膜异位症相关的不孕症（分别为5.8％，4.1％和2.9％）显着更频繁地更频繁地比对照组（分别为2.4％，1.1％和0.8％; p = 0.020，p = 0.011和p = 0.032，但GGGC和CTAT单倍型在对照组中显着更普遍（分别34.7％和13.9％）比不孕基团（26.2％和9.1％） ， 分别）。此外，CGAC单倍型更常见于小于对照（2.4％，P = 0.009）中的最小或轻度的子宫内膜异位症（6.8％），并且GTAT单倍型更常见于中度或严重疾病的那些（ 3.6％）比对照（1.1％，P = 0.028）。这些发现表明Stat4多态性可以影响子宫内膜异位症的发病机制。

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