TUSC1 和 DPF3 基因多态性与男性不育的关联。
Association of TUSC1 and DPF3 gene polymorphisms with male infertility.
机构信息
Department of Pharmaceutical Information Science, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-8505, Japan.
Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa, 920-8640, Japan.
出版信息
J Assist Reprod Genet. 2018 Feb;35(2):257-263. doi: 10.1007/s10815-017-1052-x. Epub 2017 Oct 3.
PURPOSE
Recently, 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 the TUSC1 and IZUMO3 genes) and rs10129954 (located in the DPF3 gene) SNPs, previously related to family size, are associated with male infertility. In addition, we performed association analysis between rs12348 in TUSC1 and rs2772579 in IZUMO3 and male infertility.
METHODS
We 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.
RESULTS
There 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 in TUSC1 and rs2772579 in IZUMO3 and male infertility traits, we found that rs12348 in TUSC1 was significantly associated with azoospermia and oligozoospermia, but rs2772579 in IZUMO3 was not associated with male infertility.
CONCLUSION
We found that the polymorphisms in TUSC1 and DPF3 displayed strong associations with male infertility.
目的
最近，美国一个胡特尔人群的全基因组关联研究显示，在来自芝加哥的不同种族男性中，与精子质量和/或功能显著相关的 5 个单核苷酸多态性（SNP）与家庭规模显著相关。其中，3 个 SNP（rs7867029、rs7174015 和 rs12870438）在日本人群中与无精子症和/或少精子症的风险显著相关。在这项研究中，我们调查了先前与家庭规模相关的 rs10966811（位于 TUSC1 和 IZUMO3 基因之间的一个基因间区域）和 rs10129954（位于 DPF3 基因中）SNP 是否与男性不育有关。此外，我们还对 TUSC1 中的 rs12348 和 IZUMO3 中的 rs2772579 与男性不育之间的关联进行了分析。
方法
我们通过 PCR-RFLP 技术对 145 名不育症患者（包括 83 名无精子症患者和 62 名少精子症患者）和 713 名生育能力正常的对照组进行了多态性基因分型。由于 rs10966811 没有限制位点，因此选择与 rs10966811 具有强连锁不平衡的替代 SNP rs12376894。
结果
rs12376894 替代 SNP 与少精子症之间存在统计学显著关联。此外，rs10129954 与无精子症和少精子症之间也存在统计学显著关联。当我们评估 TUSC1 中的 rs12348 和 IZUMO3 中的 rs2772579 与男性不育特征之间的关系时，我们发现 TUSC1 中的 rs12348 与无精子症和少精子症显著相关，但 IZUMO3 中的 rs2772579 与男性不育无关。
结论
我们发现 TUSC1 和 DPF3 中的多态性与男性不育有很强的关联。
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