Analysis of five single nucleotide polymorphisms in the ESR1 gene in cryptorchidism.
Analysis of five single nucleotide polymorphisms in the ESR1 gene in cryptorchidism.
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隐睾ESR1基因5个单核苷酸多态性分析
DOI：
10.1002/bdra.20458
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发表时间：
2008
期刊：
影响因子：
--
通讯作者：
Manson,Jeanne
中科院分区：
文献类型：
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作者：
Wang,Yanping;Barthold,Julia;Figueroa,Ernesto;González,Ricardo;Noh,PaulH;Wang,Miao;Manson,Jeanne
背景最近的研究表明，一种特殊的单倍型，包括雌激素受体α基因3‘末端的5个单核苷酸多态(SNPs)，与隐睾症的风险有关，但在不同的人群中，结果是相互矛盾的。本研究的目的是在包括高加索人、非裔美国人和亚裔美国人在内的美国多种族人群中进一步确定这种特定的ESR1单倍型与非综合征性隐睾症风险之间的关联。方法应用生物系统TaqMan SNP基因分型方法对152例非综合征性隐睾症患者和160名健康对照进行ESR1中5个SNP的基因分型。ESR1基因3‘端的4种单倍型也与隐睾症的发生无关，但单倍型AGATC与隐睾症的严重程度相关。ESR1中的SNP12(Rs6932902)与隐睾症本身无关，但与隐睾症的严重程度相关。重度患者的GG基因频率(93%)高于中度患者(54%)(p=0.04)，且这种关联为隐性模式(p=0.02)。该SNP在中、重度患者中的等位基因分布也有显著差异：97%的重症患者有G等位基因，而中度患者仅有76%的患者有G等位基因(p=.03)。结论ESR1的SSNP12与隐睾症的发生无关，但与隐睾症的严重程度有关。出生缺陷研究(A部分)，2008。©2008 Wiley-Liss，Inc.
BACKGROUNDRecent findings suggest that a specific haplotype, including five single nucleotide polymorphisms (SNPs) in the 3′‐terminal region of the estrogen receptor α gene (ESR1), is associated with the risk for cryptorchidism, but results have been conflicting in different populations. The goal of this study was to further define the association between this specificESR1haplotype and the risk for nonsyndromic cryptorchidism in a multiracial American population including Caucasian, African American, and Asian American subjects.METHODSApplied Biosystems TaqMan SNP Genotyping Assays were used to identify the genotypes of the five SNPs inESR1in 152 nonsyndromic cryptorchidism cases and 160 healthy controls.RESULTSFor the five SNPs, there were no significant differences in genotype frequencies between cases and controls. The four estimated haplotypes at the 3′ region ofESR1gene were also not associated with the occurrence of cryptorchidism, but the haplotype AGATC was associated with the severity of cryptorchidism. SNP12 (rs6932902) inESR1was not associated with cryptorchidism per se, but was associated with increasing severity of cryptorchidism. Severe cases were more likely to have GG genotype (93%) than moderate (54%) cases (p= .04), and this association was in recessive mode (p= .02). The allele distribution of this SNP was also significantly different between moderate and severe cases: 97% of severe cases had the G allele while only 76% of moderate cases had the G allele (p= .03).CONCLUSIONSSNP12 inESR1is not associated with the occurrence of cryptorchidism but is associated with the severity of cryptorchidism. Birth Defects Research (Part A), 2008. © 2008 Wiley‐Liss, Inc.