An association study of four candidate loci for human male fertility traits with male infertility
An association study of four candidate loci for human male fertility traits with male infertility
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DOI：
10.1093/humrep/dev088
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发表时间：
2015-06-01
影响因子：
6.1
通讯作者：
Iwamoto, Teruaki
中科院分区：
文献类型：
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作者：
Sato, Youichi;Tajima, Atsushi;Iwamoto, Teruaki
研究问题：在美国huterite人群的全基因组关联研究（GWAS）中发现的人类男性生育性状的四个候选位点（rs7867029、rs7174015、rs12870438和rs724078）是否与日本人群的男性不育相关？结论：rs7867029、rs7174015和rs12870438与日本男性不育风险显著相关。已知情况：最近，美国huterite人群的GWAS显示41个单核苷酸多态性（SNPs）与家庭规模或出生率显著相关。其中，四个snp （rs7867029, rs7174015， rs12870438和rs724078）被发现与来自芝加哥的不同种族男性的精液参数相关。研究设计、规模、持续时间：这是一项病例对照关联研究，共有917名日本受试者，包括791名有生育能力的男性，76名无精子症患者和50名少精子症患者。参与者/材料、环境、方法：无精子症的诊断依据是精液分析（射精中没有精子）、血清激素水平和体格检查。少精症被定义为精子浓度为
STUDY QUESTION: Are the four candidate loci (rs7867029, rs7174015, rs12870438 and rs724078) for human male fertility traits, identified in a genome-wide association study (GWAS) of a Hutterite population in the USA, associated with male infertility in a Japanese population?SUMMARY ANSWER: rs7867029, rs7174015 and rs12870438 are significantly associated with the risk of male infertility in a Japanese POPULATION.WHAT IS KNOWN ALREADY: Recently, a GWAS of a Hutterite population in the USA revealed that 41 single-nucleotide polymorphisms (SNPs) were significantly correlated with family size or birth rate. Of these, four SNPs (rs7867029, rs7174015, rs12870438 and rs724078) were found to be associated with semen parameters in ethnically diverse men from Chicago.STUDY DESIGN, SIZE, DURATION: This is a case-control association study in a total of 917 Japanese subjects, including 791 fertile men, 76 patients with azoospermia and 50 patients with oligozoospermia.PARTICIPANTS/MATERIALS, SETTING, METHODS: Azoospermia was diagnosed on the basis of semen analysis (the absence of sperm in ejaculate), serum hormone levels and physical examinations. Oligozoospermia was defined as a sperm concentration of