Youichi Sato1, Chise Hasegawa2, Atsushi Tajima3, Shiari Nozawa4, Miki Yoshiike4, Eitetsue Koh5, Jiro Kanaya5, Mikio Namiki5,6, Kiyomi Matsumiya7, Akira Tsujimura8, Kiyoshi Komatsu9, Naoki Itoh10, Jiro Eguchi11, Aiko Yamauchi2, Teruaki Iwamoto4,12. 1. Department of Pharmaceutical Information Science, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-8505, Japan. youichi.sato@tokushima-u.ac.jp. 2. Department of Pharmaceutical Information Science, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, 770-8505, Japan. 3. Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Kanazawa, 920-8640, Japan. 4. Department of Urology, St. Marianna University School of Medicine, Kawasaki, 216-8511, Japan. 5. Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, 920-8641, Japan. 6. Department of Urology, Hasegawa Hospital, Toyama, 930-0065, Japan. 7. Department of Urology, Suita Tokushukai Hospital, Osaka, 565-0814, Japan. 8. Department of Urology, Juntendo University Urayasu Hospital, Urayasu, 279-0021, Japan. 9. Department of Urology, Harasanshinkai Hospital, Fukuoka, 812-0033, Japan. 10. Department of Urology, NTT East Sapporo Hospital, Sapporo, 060-0061, Japan. 11. Department of Urology, Sasebo Kyosai Hospital, Sasebo, 857-8575, Japan. 12. Center for Infertility and IVF, International University of Health and Welfare Hospital, Nasushiobara, 329-2763, Japan.
Abstract
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.
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.
Entities:
Keywords:
Azoospermia; Double plant homeodomain fingers; Family 3; Male infertility; Oligozoospermia; Single nucleotide polymorphism; Tumor suppressor candidate 1
Authors: Wen-Qing Li; Ruth M Pfeiffer; Paula L Hyland; Jianxin Shi; Fangyi Gu; Zhaoming Wang; Samsiddhi Bhattacharjee; Jun Luo; Xiaoqin Xiong; Meredith Yeager; Xiang Deng; Nan Hu; Philip R Taylor; Demetrius Albanes; Neil E Caporaso; Susan M Gapstur; Laufey Amundadottir; Stephen J Chanock; Nilanjan Chatterjee; Maria Teresa Landi; Margaret A Tucker; Alisa M Goldstein; Xiaohong R Yang Journal: Carcinogenesis Date: 2014-09-19 Impact factor: 4.944
Authors: Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean Journal: Nature Date: 2012-11-01 Impact factor: 49.962
Authors: Zhihong Shan; Abbas Shakoori; Sohrab Bodaghi; Paul Goldsmith; Jen Jin; Jonathan S Wiest Journal: PLoS One Date: 2013-06-11 Impact factor: 3.240
Authors: Miriam Cerván-Martín; Lara Bossini-Castillo; Rocío Rivera-Egea; Nicolás Garrido; Saturnino Luján; Gema Romeu; Samuel Santos-Ribeiro; José A Castilla; M Carmen Gonzalvo; Ana Clavero; F Javier Vicente; Andrea Guzmán-Jiménez; Cláudia Costa; Inés Llinares-Burguet; Chiranan Khantham; Miguel Burgos; Francisco J Barrionuevo; Rafael Jiménez; Josvany Sánchez-Curbelo; Olga López-Rodrigo; M Fernanda Peraza; Iris Pereira-Caetano; Patricia I Marques; Filipa Carvalho; Alberto Barros; Lluís Bassas; Susana Seixas; João Gonçalves; Sara Larriba; Alexandra M Lopes; Rogelio J Palomino-Morales; F David Carmona Journal: J Pers Med Date: 2020-12-29