Department of Pharmaceutical Information Science, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, 770-8505, Japan
Department of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, 770-8503, Japan Department of Bioinformatics and Genomics, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, 920-8640, Japan
Hum Reprod. 2015 Jun;30(6):1505-9. doi: 10.1093/humrep/dev081. Epub 2015 Apr 23.
Are the four candidate loci (rs7867029, rs12870438, rs7174015 and rs724078) for human male fertility traits, identified in a genome-wide association study (GWAS) of a Hutterite population in the USA, associated with semen quality traits in a Japanese population?
The four single nucleotide polymorphisms (SNPs) rs7867029, rs12870438, rs7174015 and rs724078 have no association with semen parameters in a meta-analysis of two Japanese male cohorts.
Four (rs7867029, rs12870438, rs7174015 and rs724078) of the SNPs associated with family size or birth rate in the GWAS of a Hutterite population in the USA were associated with semen parameters in ethnically diverse men from Chicago, USA.
STUDY DESIGN, SIZE, DURATION: This is a replication study in a total of 2015 Japanese subjects, including 791 fertile men and 1224 young men from the general population.
PARTICIPANTS/MATERIALS, SETTING, METHODS: We performed a replication study in two cohorts to assess whether the SNPs rs7867029, rs12870438, rs7174015 and rs724078 are associated with sperm concentration, semen volume, total sperm numbers, total motile sperm numbers or sperm motility. The rs12870438 SNP was detected by restriction fragment length polymorphism PCR while rs7174015, rs724078 and rs7867029 SNPs were genotyped using TaqMan probes.
This study indicated that none of the four SNPs rs7867029, rs12870438, rs7174015 and rs724078 displayed a significant association with semen parameters in the meta-analysis of two Japanese male cohorts.
LIMITATIONS, REASONS FOR CAUTION: Only four SNPs identified in the Hutterite GWAS were examined for associations with semen quality traits in a Japanese population. In addition, the linkage disequilibrium structures around the testing markers were different between ethnic groups.
Locus mapping studies using a set of tagging SNPs across the loci will be necessary in populations with larger sample sizes in order to understand the contribution of specific genes to semen quality.
STUDY FUNDING/COMPETING INTEREST S: This study was supported in part by the Ministry of Health and Welfare of Japan (1013201) (to T.I.), Grant-in-Aids for Scientific Research (C) (23510242) (to A.Ta.) from the Japan Society for the Promotion of Science, the European Union (BMH4-CT96-0314) (to T.I.), and the Takeda Science Foundation (to A.Ta.). None of the authors has any competing interests to declare.
在美国胡特尔特人群的全基因组关联研究（GWAS）中鉴定的四个候选基因座（rs7867029、rs12870438、rs7174015 和 rs724078）是否与日本人群的精液质量特征相关？
在对两个日本男性队列的荟萃分析中，四个单核苷酸多态性（SNP）rs7867029、rs12870438、rs7174015 和 rs724078 与精液参数无关。
在美国胡特尔特人群的 GWAS 中，与家庭规模或出生率相关的四个（rs7867029、rs12870438、rs7174015 和 rs724078）SNP 与来自美国芝加哥的不同种族男性的精液参数相关。
研究设计、大小和持续时间：这是一项共纳入 2015 名日本受试者的复制研究，包括 791 名生育能力正常的男性和 1224 名来自普通人群的年轻男性。
参与者/材料、地点、方法：我们在两个队列中进行了一项复制研究，以评估 SNP rs7867029、rs12870438、rs7174015 和 rs724078 是否与精子浓度、精液量、总精子数、总活动精子数或精子活力相关。rs12870438 SNP 通过限制性片段长度多态性 PCR 检测，而 rs7174015、rs724078 和 rs7867029 SNP 使用 TaqMan 探针进行基因分型。
这项研究表明，在对两个日本男性队列的荟萃分析中，这四个 SNP rs7867029、rs12870438、rs7174015 和 rs724078 均与精液参数无显著关联。
局限性、谨慎的原因：仅在日本人群中对胡特尔特 GWAS 中确定的四个 SNP 进行了与精液质量特征相关的研究。此外，在不同种族群体中，检测标记周围的连锁不平衡结构也不同。
为了了解特定基因对精液质量的贡献，在具有更大样本量的人群中进行使用一组标记 SNP 进行基因座映射研究将是必要的。
研究资金/竞争利益：本研究部分由日本厚生劳动省（1013201）（T.I.）、日本学术振兴会科学研究补助金（C）（23510242）（A.Ta.）、欧盟（BMH4-CT96-0314）（T.I.）和武田科学基金会（A.Ta.）资助。作者均无任何竞争利益需要声明。
