Association of TUSC1 and DPF3 gene polymorphisms with male infertility
Association of TUSC1 and DPF3 gene polymorphisms with male infertility
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DOI：
10.1007/s10815-017-1052-x
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发表时间：
2018-02
影响因子：
3.1
通讯作者：
Youichi Sato;Chise Hasegawa;A. Tajima;S. Nozawa;M. Yoshiike;Eitetsu Koh;J. Kanaya;M. Namiki;K. Matsumiya;A. Tsujimura;Kiyoshi Komatsu;Naoki Itoh;J. Eguchi;A. Yamauchi;T. Iwamoto
中科院分区：
文献类型：
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作者：
Youichi Sato;Chise Hasegawa;A. Tajima;S. Nozawa;M. Yoshiike;Eitetsu Koh;J. Kanaya;M. Namiki;K. Matsumiya;A. Tsujimura;Kiyoshi Komatsu;Naoki Itoh;J. Eguchi;A. Yamauchi;T. Iwamoto
目的最近，对美国Hutterite人群的全基因组关联研究显示，来自芝加哥的不同种族男性中，5个与精子质量和/或功能显著相关的单核苷酸多态性（SNP）与家庭规模显著相关。其中，三个SNP（rs7867029，rs7174015和rs 12870438）被发现与日本人群中无精子症和/或少精子症的风险显著相关。在本研究中，我们研究了rs 10966811（位于TUSC 1和IZUMO 3基因之间的基因间区域）和rs 10129954（位于DPF 3基因）SNPs，以前与家庭规模相关，是否与男性不育相关。方法采用PCR-RFLP技术对145例男性不育患者（包括83例无精子症患者和62例少精子症患者）和713例正常生育者进行基因分型。由于rs 10966811没有限制性位点，因此选择rs 12376894作为rs 10966811的替代位点。结果rs 10966811的rs 12376894代理SNP与少精症有显著相关性。此外，观察到rs 10129954与无精子症和少精子症之间存在统计学显著相关性。结果发现TUSC 1的rs 12348和IZUMO 3的rs 2772579与无精症和少精症有显著相关性，而IZUMO 3的rs 2772579与男性不育无相关性。
PurposeRecently, genome-wide association studies of a Hutterite population in the USA revealed that five single nucleotide polymorphisms (SNPs) with a significant association with sperm quality and/or function in ethnically diverse men from Chicago were significantly correlated with family size. Of these, three SNPs (rs7867029, rs7174015, and rs12870438) were found to be significantly associated with the risk of azoospermia and/or oligozoospermia in a Japanese population. In this study, we investigated whether the rs10966811 (located in an intergenic region between theTUSC1andIZUMO3genes) and rs10129954 (located in theDPF3gene) SNPs, previously related to family size, are associated with male infertility. In addition, we performed association analysis between rs12348 inTUSC1and rs2772579 inIZUMO3and male infertility.MethodsWe genotyped 145 patients with infertility (including 83 patients with azoospermia and 62 with oligozoospermia) and 713 fertile controls by PCR-RFLP technique for polymorphism. Because rs10966811 has no restriction sites, the SNP rs12376894 with strong linkage disequilibrium was selected as an alternative to rs10966811.ResultsThere was a statistically significant association between rs12376894 proxy SNP of rs10966811 and oligozoospermia. Also, a statistically significant association between rs10129954 and azoospermia, and oligozoospermia was observed. When we assessed the relationship between rs12348 inTUSC1and rs2772579 inIZUMO3and male infertility traits, we found that rs12348 inTUSC1was significantly associated with azoospermia and oligozoospermia, but rs2772579 inIZUMO3was not associated with male infertility.ConclusionWe found that the polymorphisms inTUSC1andDPF3displayed strong associations with male infertility.