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首页> 外文期刊>The journal of sexual medicine >Genetic Polymorphisms of 17beta-Hydroxysteroid Dehydrogenase 3 and the Risk of Hypospadias
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Genetic Polymorphisms of 17beta-Hydroxysteroid Dehydrogenase 3 and the Risk of Hypospadias

机译：17β-羟基类固醇脱氢酶3的遗传多态性和低位的风险。

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Introduction. Hypospadias is a common congenital anomaly caused by incomplete fusion of urethral folds. Development of the urethra and external genital system in the male fetus is an androgen-dependent process. In this regard enzymes 17beta-hydroxysteroid dehydrogenase type 3 (17betaHSD3, encoded by HSD17B3) and steroid 5alpha- reductase type 2 (encoded by SRD5A2) play crucial roles. Aim. To investigate the possible associations between common polymorphisms in HSD17B3 as well as well-known V89L polymorphism in SRDSA2 and risk of hypospadias. Methods. A case-control study was performed between 1999 and 2005. There were 89 Japanese boys with hypospadias and 291 newborn controls. We genotyped HSD11B3 -1999T>C, +10A>G, +20A>G, +139G>A (V31I), +913G>A (G289S), and SRD5A2 +336G>C (V89L) polymorphisms by allelic discrimination assay. We measured mRNA expression of the wildtype G289 allele and the mutant S289 allele of the HSD17B3 gene in the transfected human fetal kidney HEK293 cells. Main Outcome Measures. Assessment of hypospadias including its severity and HSD17B3 and SRD5A2 genes using DNA blood samples: allele and genotype distribution of single nucleotide polymorphisms in these two genes in cases and controls. Results. In our study, the risk of hypospadias was significantly higher in subjects carrying homozygous HSDl 7B3 +913A(289S) alleles (odds ratio [OR]: 3.06; 95% confidence interval [CI]: 1.38-6.76). The risk of severe hypospadias was much higher in these subjects (OR: 3.93; 95% CI: 1.34-11.49). The mRNA expression levels of HSD17B3 G2 89 were higher than those of HSD17B3 S289 mutant (P< 0.001). In addition, the risk of severe hypospadias increased in boys carrying the SRD5A2 +336C (89L) allele (OR: 3.19; 95% CI: 1.09-9.36). Conclusions. These results suggest that the HSD17B3 G289S polymorphism may be a potential risk modifier for hypospadias. Our findings provide evidence that a certain genotype related to androgen production may potentiate risk of hypospad...
机译：介绍。尿道下裂是由尿道皱褶不完全融合引起的常见先天性异常。男性胎儿尿道和外部生殖系统的发育是雄激素依赖性过程。在这方面，酶17β-羟基类固醇脱氢酶3型（17betaHSD3，由HSD17B3编码）和类固醇5α-还原酶2型（由SRD5A2编码）起着至关重要的作用。目标。调查HSD17B3中常见的多态性与SRDSA2中众所周知的V89L多态性与尿道下裂风险之间的可能关联。方法。在1999年至2005年之间进行了一项病例对照研究。日本有89名患有尿道下裂的男孩和291名新生儿对照。我们通过等位基因歧视分析对HSD11B3 -1999T> C，+ 10A> G，+ 20A> G，+ 139G> A（V31I），+ 913G> A（G289S）和SRD5A2 + 336G> C（V89L）多态性进行基因分型。我们在转染的人胎儿肾脏HEK293细胞中测量了HSD17B3基因的野生型G289等位基因和突变S289等位基因的mRNA表达。主要观察指标。使用DNA血样评估尿道下裂，包括其严重程度以及HSD17B3和SRD5A2基因：在病例和对照中这两个基因中单核苷酸多态性的等位基因和基因型分布。结果。在我们的研究中，患有纯合子HSD1 7B3 + 913A（289S）等位基因的受试者发生尿道下裂的风险明显更高（几率[OR]：3.06; 95％置信区间[CI]：1.38-6.76）。这些受试者发生严重尿道下裂的风险更高（OR：3.93; 95％CI：1.34-11.49）。 HSD17B3 G2 89的mRNA表达水平高于HSD17B3 S289突变体的表达水平（P <0.001）。此外，携带SRD5A2 + 336C（89L）等位基因的男孩患严重尿道下裂的风险增加（OR：3.19; 95％CI：1.09-9.36）。结论。这些结果表明，HSD17B3 G289S多态性可能是尿道下裂的潜在危险因素。我们的发现提供了证据，表明与雄激素产生有关的某些基因型可能会增加亚健康的风险。

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