Analysis of the correlation between gene copy deletion in the AZFc region and male infertility in Japanese men |
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| Affiliation: | 1. Department of Pharmaceutical Information Science, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8505, Japan;2. Center for Infertility and IVF, International University of Health and Welfare Hospital, Tochigi 329-2763, Japan;3. Department of Urology, University of Tsukuba Hospital, Ibaraki 305-8576, Japan;4. Urology department, Tsukuba Gakuen Hospital, Ibaraki 305-0854, Japan;5. Department of Male Infertility, Reproduction Center, Sanno Hospital, Tokyo 107-0052, Japan;1. Centro de Ciências Rurais, Universidade Federal de Santa Catarina (UFSC), Curitibanos, SC, Brazil;2. Department of Animal Sciences, University of Florida, Gainesville, FL, USA;3. Laboratório de Reprodução Animal Assis Roberto de Bem, Centro de Ciências Agroveterinárias (CAV), Universidade do Estado de Santa Catarina (UDESC), Lages, SC, Brazil;4. Centre de Recherche en Reproduction Animale, Faculté de Médecine Vétérinaire, Université de Montréal, St-Hyacinthe, Quebec, Canada;5. Laboratório de Biotecnologia e Reprodução Animal (BIOREP), Universidade Federal de Santa Maria (UFSM), Santa Maria, RS, Brazil;1. Graduate School of Biomedical Sciences, Tokushima University, 1–78–1 Shomachi, Tokushima, 770-8505, Japan;2. Department of Biochemistry, Faculty of Veterinary Medicine, Zagazig University, El-Shohada, Moawwad, Qesm Awel AZ, Zagazig, 44511, Egypt;1. The Laboratory of Cell and Genetics, the People’s Hospital of Hebi, 458030 Hebi City, Henan, China;2. Tianjin Key Laboratory of Exercise Physiology and Sports Medicine, College of Exercise and Health Sciences, Tianjin University of Sport, Tianjin City 301617, China;3. Department of Obstetrics and Gynecology, the People’s Hospital of Hebi, 458030 Hebi City, Henan, China;4. Eproductive Center, the People’s Hospital of Hebi, 458030 Hebi City, Henan, China;5. Sumy National Agrarian University, Sumy City 40021, Ukraine;1. Shimane Meat Sanitation Inspection Center, Shimane Prefecture, 1677-2 Asahiyama-cho Senyama, Ooda 699-2212, Japan;2. Laboratory of Animal Reproductive Physiology, Department of Bioresource Sciences, Prefectural University of Hiroshima, 5562 Nanatuka-cho, Shobara 727-0023, Japan;3. Laboratory of Animal Reproductive Physiology, Graduate School of Comprehensive Scientific Research, Prefectural University of Hiroshima, 5562 Nanatuka-cho, Shobara 727-0023, Japan;4. Laboratory of Theriogenology, Joint Department of Veterinary Medicine, Faculty of Agriculture, Tottori University, 4-101 Koyama-cho Minami, Tottori 680-8553, Japan;5. Laboratory of Veterinary Pathology, Joint Department of Veterinary Medicine, Faculty of Agriculture, Tottori University, 4-101 Koyama-cho Minami, Tottori 680-8553, Japan;6. Laboratory of Animal Reproduction, Department of Animal Science, School of Veterinary Medicine, Kitasato University, Towada 034-8628, Japan;7. Shimane Prefectural Institute of Public Health and Environment Science, 582-1 Nishihamasada-cho, Matsue, Shimane 690-0122, Japan;1. Section of Reproductive Endocrinology and Infertility, Department of obstetrics and gynecology University of Chicago, Chicago, IL;2. Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Emory University, Atlanta, GA;3. Shady Grove Fertility – New York;4. Fertility Answers, LLC, Louisiana;5. Division of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology and Reproductive Sciences University of Miami;6. Division of Reproductive Endocrinology and Infertiltiy, Department of Obstetrics and Gynecology Northwestern University;1. Department of Oncology, Peking University Shenzhen Hospital, Shenzhen 518036, Guangdong, China;2. Department of Gynecology, Peking University Shenzhen Hospital, Shenzhen 518036, Guangdong, China |
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| Abstract: | Deletion of the azoospermia factor c (AZFc), located on the long arm of the Y chromosome, is a cause of male infertility. The structure of the Y chromosome is diversified by the copy number of various genes, such as deleted in azoospermia (DAZ), basic protein Y2, chromodomain Y1, testis-specific transcript Y-linked 4, and Golgi autoantigen golgin subfamily a2 like Y, located in the AZF region. In this study, we investigated the deletion of each gene copy and analyzed its relationship with Japanese male infertility. Deletions of single nucleotide variants of each gene copy in 721 proven fertile men as controls, 139 patients with non-obstructive azoospermia (NOA), and 56 patients with oligozoospermia (OS) were analyzed via polymerase chain reaction-restriction fragment length polymorphism analysis. Their association with infertility was analyzed using logistic regression analysis adjusted for the Y-chromosome haplogroup, D1a2a. Deletions of DAZ/II in the r1 region and DAZ/V in the r1 and r2 regions showed significant associations with NOA (odds ratio [OR] = 4.15, 95 % confidence interval [CI] = 1.18–14.6, P = 0.026; OR = 4.19, 95 % CI = 1.19–14.7, P = 0.025, respectively). They did not show any association with OS. Partial deletion of the AZFc region affects spermatogenesis in Japanese male. |
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| Keywords: | Y chromosome AZF Non-obstructive azoospermia Infertility Japanese men |
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