Background/Aims: To determine whether genetic alterations in the CD9 gene are associated with female infertility in humans. Methods: We sequenced the entire coding region of this gene in 86 Japanese women with unexplained infertility and further conducted a case-control study of six tagging single nucleotide polymorphisms (SNPs) in this gene using an additional 164 samples obtained from a fertile control group. Results: No disease-causing mutation in the CD9 gene was evident in these samples and no significant association between the tagging SNPs and the studied cohort was identified. Conclusions: Our findings do not support the hypothesis that genetic alterations of the CD9 gene cause female infertility in humans.
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