• PMID: 28975488
• Gene Name: DPF3
• Condition: Azoospermia, Oligozoospermia, Male infertility
• Association: Associated
• Mutation: rs12376894, rs10966811, rs12348
• Population size: 858
• Population details: 145 (83 patients with azoospermia and 62 with oligozoospermia), 713 fertile patients
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, Oligozoospermia, Male infertility

Association of TUSC1 and DPF3 gene polymorphisms with male infertility

Sato Y, Hasegawa C, Tajima A, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Yamauchi A, Iwamoto T.

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. FAU - Sato, Youichi AU - Sato Y AUID- ORCID: 0000-0003-2224-552X AD - Department of Pharmaceutical Information Science, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-8505, Japan. youichi.sato@tokushima-u.ac.jp. FAU - Hasegawa, Chise AU - Hasegawa C AD - Department of Pharmaceutical Information Science, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-8505, Japan. FAU - Tajima, Atsushi AU - Tajima A AD - Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa, 920-8640, Japan. FAU - Nozawa, Shiari AU - Nozawa S AD - Department of Urology, St. Marianna University School of Medicine, Kawasaki, 216-8511, Japan. FAU - Yoshiike, Miki AU - Yoshiike M AD - Department of Urology, St. Marianna University School of Medicine, Kawasaki, 216-8511, Japan. FAU - Koh, Eitetsue AU - Koh E AD - Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, 920-8641, Japan. FAU - Kanaya, Jiro AU - Kanaya J AD - Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, 920-8641, Japan. FAU - Namiki, Mikio AU - Namiki M AD - Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, 920-8641, Japan. AD - Department of Urology, Hasegawa Hospital, Toyama, 930-0065, Japan. FAU - Matsumiya, Kiyomi AU - Matsumiya K AD - Department of Urology, Suita Tokushukai Hospital, Osaka, 565-0814, Japan. FAU - Tsujimura, Akira AU - Tsujimura A AD - Department of Urology, Juntendo University Urayasu Hospital, Urayasu, 279-0021, Japan. FAU - Komatsu, Kiyoshi AU - Komatsu K AD - Department of Urology, Harasanshinkai Hospital, Fukuoka, 812-0033, Japan. FAU - Itoh, Naoki AU - Itoh N AD - Department of Urology, NTT East Sapporo Hospital, Sapporo, 060-0061, Japan. FAU - Eguchi, Jiro AU - Eguchi J AD - Department of Urology, Sasebo Kyosai Hospital, Sasebo, 857-8575, Japan. FAU - Yamauchi, Aiko AU - Yamauchi A AD - Department of Pharmaceutical Information Science, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-8505, Japan.