Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome
Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome
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DOI：
10.1016/j.fertnstert.2012.06.013
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发表时间：
2012-10-01
影响因子：
6.7
通讯作者：
Jamsai, Duangporn
中科院分区：
文献类型：
--
作者：
O'Bryan, Moira K.;Grealy, Alicia;Jamsai, Duangporn
目的：探讨ETV5基因变异与单纯支持细胞综合征相关的非梗阻性无精子症(NOA)的相关性。设计：遗传关联研究。地点：大学。患者(S)：澳大利亚男性(SCO 65例，NOA 53例，生育男性242例)和美国男性(SCO 86例，生育男性54例)。干预(S)：石蜡包埋的人睾丸组织切片，进行免疫荧光分析。采用直接测序和聚合酶链式反应SNP检测方法确定ETV5基因的遗传变异。主要结果评价(S)：ETV5在人睾丸中的定位，以及在生育和不育男性中是否存在ETV5基因变异。结果(S)：ETV5定位于成人睾丸的支持细胞和生殖细胞。我们在ETV5基因中发现了六个先前报道的和六个新的遗传变异。其中+/-48845 G&gT；T(TT等位基因)纯合子突变的等位基因频率在SCO和NOA澳大利亚男性中显著高于正常生育男性。结论：+/-48845 G>(TT等位基因)突变是澳大利亚男性NOA和SCA男性不育的高危因素。(Fertil Steril(R)2012；98：827-35。(C)2012年，由美国生殖医学学会主办。)
Objective: To assess the association between genetic variants in the ETV5 gene with nonobstructive azoospermia (NOA) associated with Sertoli cell-only (SCO) syndrome.Design: Genetic association study.Setting: University.Patient(s): Australian men (65 SCO, 53 NOA, and 242 fertile men) and American men (86 SCO and 54 fertile men).Intervention(s): Paraffin-embedded human testicular tissue was sectioned and processed for immunofluorescence. Direct DNA sequencing and polymerase chain reaction-based SNP detection were performed to define genetic variants in the ETV5 gene.Main Outcome Measure(s): The localization of ETV5 in the human testis and the presence of ETV5 genetic variants in fertile and infertile men.Result(s): ETV5 is localized to the cytoplasm and nucleus of Sertoli and germ cells in adult human testes. We identified six previously reported and six new genetic variants in the ETV5 gene. Of these, the allele frequency of the homozygous +/- 48845 G>T (TT allele) variant was significantly higher in the SCO and NOA Australian men compared with fertile men.Conclusion(s): The homozygous +/- 48845 G>T (TT allele) variant confers a higher risk for male infertility associated with NOA and SCO in Australian men. (Fertil Steril (R) 2012;98:827-35. (C) 2012 by American Society for Reproductive Medicine.)