An association study of four candidate loci for human male fertility traits with male infertility

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,...

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Bibliographic Details
Published in:Human reproduction (Oxford) 2015-06, Vol.30 (6), p.1510-1514
Main Authors: Sato, Youichi, Tajima, Atsushi, Tsunematsu, Kouki, Nozawa, Shiari, Yoshiike, Miki, Koh, Eitetsue, Kanaya, Jiro, Namiki, Mikio, Matsumiya, Kiyomi, Tsujimura, Akira, Komatsu, Kiyoshi, Itoh, Naoki, Eguchi, Jiro, Imoto, Issei, Yamauchi, Aiko, Iwamoto, Teruaki
Format: Article
Language:English
Subjects:
Asian Americans - genetics
Azoospermia - genetics
Case-Control Studies
Fertility - genetics
Gene Frequency
Genetic Markers
Genome-Wide Association Study
Genotype
Humans
Infertility, Male - genetics
Japan - ethnology
Male
Oligospermia - genetics
Polymorphism, Single Nucleotide
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Summary: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
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/dev088