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HSD17B1、HSD17B2和SHBG基因中的遗传多态性与肝细胞癌风险的关联。

Association of genetic polymorphisms in HSD17B1, HSD17B2 and SHBG genes with hepatocellular carcinoma risk.

作者信息

Zhang Lu Shun, Yuan Fang, Guan Xuan, Li Juan, Liu Xin Lian, Sun Jing, Liu Bo, Ma Wei, Deng Feng Mei

机构信息

Department of Pathology and Pathophysiology, Cheng Du Medical College, Chengdu, 610500, China,

出版信息

Pathol Oncol Res. 2014 Jul;20(3):661-6. doi: 10.1007/s12253-014-9746-1. Epub 2014 Feb 22.

DOI:10.1007/s12253-014-9746-1
PMID:24563232
Abstract

Genetic polymorphisms of enzymes involved in estrogen synthesizing/transporting can influence the risk of hormone-dependent diseases. The incidence rate and relative risk for hepatocellular carcinoma (HCC) are higher in men than in women. This study was conducted to explore the relationship of single nucleotide polymorphisms (SNPs) in 17 β-Hydroxysteroid dehydrogenases (HSD17B1 and HSD17B2) and sex hormone-binding globulin (SHBG) genes with the risk of HCC within Chinese Han population. Polymorphisms of HSD17B1 rs676387, HSD17B2 rs8191246 and SHBG rs6259 were genotyped in 253 HCC patients and 438 healthy control subjects using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Significantly increased HCC risk was found to be associated with T allele of rs676387 and G allele of rs8191246. Increased HCC risks were found in different genetic model (TT genotype in a recessive model, T allele carriers in a dominant model, TT genotype and TG genotype in a codominant model for HSD17B1 rs676387, G allele carriers in a dominant model and AG genotype in a codominant model for HSD17B2 rs8191246, respectively). No association between SHBG rs6259 and HCC risk was observed. The present study provided evidence that HSD17B1 rs676387 and HSD17B2 rs8191246 were association with HCC development. Further studies in diverse ethnic population with larger sample size were recommended to confirm the findings.

摘要

参与雌激素合成/转运的酶的基因多态性可能影响激素依赖性疾病的风险。肝细胞癌(HCC)的发病率和相对风险男性高于女性。本研究旨在探讨中国汉族人群中17β-羟类固醇脱氢酶(HSD17B1和HSD17B2)及性激素结合球蛋白(SHBG)基因的单核苷酸多态性(SNP)与HCC风险的关系。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对253例HCC患者和438例健康对照者进行HSD17B1 rs676387、HSD17B2 rs8191246和SHBG rs6259基因分型。发现rs676387的T等位基因和rs8191246的G等位基因与HCC风险显著增加相关。在不同遗传模型中发现HCC风险增加(HSD17B1 rs676387的隐性模型中的TT基因型、显性模型中的T等位基因携带者、共显性模型中的TT基因型和TG基因型;HSD17B2 rs8191246的显性模型中的G等位基因携带者和共显性模型中的AG基因型)。未观察到SHBG rs6259与HCC风险之间的关联。本研究提供了证据表明HSD17B1 rs676387和HSD17B2 rs8191246与HCC发生有关。建议在不同种族人群中进行更大样本量的进一步研究以证实这些发现。

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Effects of polymorphisms of the sex hormone-binding globulin (SHBG) gene on free estradiol and bone mineral density.性激素结合球蛋白 (SHBG) 基因多态性对游离雌二醇和骨密度的影响。
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Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect.
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