Association between XRCC1 single-nucleotide polymorphisms and infertility with idiopathic azoospermia in northern Chinese Han males |
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| Authors: | Lie-rui Zheng Xiao-fang Wang Dang-xia Zhou Jing Zhang Yong-wei Huo Hong Tian |
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| Institution: | 1. Department of Pathology, Medical School, Xi’an Jiaotong University, Xi’an 710061, China;2. Shaan’xi Blood Center, Xi’an 710061, China;3. Reproductive Medical Center, Xi’an Jiaotong University, Xi’an 710061, China;4. Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi’an 710061, China;1. Institut National de la Santé et de la Recherche Médicale U1016, Institut Cochin, 75014 Paris, France;2. Centre National de la Recherche Scientifique UMR 8104, 75014 Paris, France;3. Université Paris Descartes, Sorbonne Paris Cité, 75014 Paris, France;4. Institut de Physiologie et Biologie Cellulaires, Centre National de la Recherche Scientifique FRE 3511, Université de Poitiers, 86022 Poitiers, France;5. Institut National de la Santé et de la Recherche Médicale UMR S933, Hôpital Armand Trousseau, 75012 Paris, France;6. Laboratoire de Biochimie et Génétique Moléculaire, Groupe Hospitalier Cochin Broca Hôtel Dieu, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France;7. Institut National de la Santé et de la Recherche Médicale UMR S973, Université Paris Diderot, Sorbonne Paris Cité, 75205 Paris cedex 13, France;8. Service d’Histologie Embryologie et de Biologie de la Reproduction, Groupe Hospitalier Cochin Broca Hôtel Dieu, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France;9. Equipe “Génétique, Infertilité, et Thérapeutiques,” Laboratoire d’Andrologie, Gérontechnologie, Inflammation, et Modélisation, Centre National de la Recherche Scientifique FRE 3405, Université Joseph Fourier, 38043 Grenoble, France;1. Department of Epidemiology and Biostatistics, Imperial College London, London, England, United Kingdom;2. Department of Urogynecology, Imperial College London, London, England, United Kingdom;3. Department of Genomics of Common Disease and Molecular Genetics and Genomics, Imperial College London, London, England, United Kingdom;4. Clinical Trials Unit, Imperial College London, London, England, United Kingdom;5. Institute for Reproductive and Developmental Biology, Imperial College London, London, England, United Kingdom;6. Department of Urogynecology, King’s College London, London, England, United Kingdom;7. University College London Medical School, London, England, United Kingdom;8. Department of Urology Research, University of Sheffield, Sheffield, England, United Kingdom;9. Division of Health Sciences, Warwick Medical School, University of Warwick, Coventry, England, United Kingdom;10. Beatson Institute for Cancer Research, University of Glasgow, Glasgow, Scotland, United Kingdom;11. Department of Reproductive Medicine, University of California, San Diego, School of Medicine, and Department of Obstetrics and Gynecology, Kaiser Permanente, San Diego, CA;12. Departments of Urology and Public Health, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland;13. Department of Urology, University of Tampere, Tampere, Finland;14. Institute of Health Sciences and Biocenter Oulu, University of Oulu, Finland;15. Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, Ontario, Canada;1. Unitat de Biologia Cel·lular, Facultat de Biociències, Universitat Autònoma de Barcelona, Bellaterra (Cerdanyola del Vallès), Spain;2. Joint Institution for Research in Biomedicine–Barcelona Supercomputing Center Program on Computational Biology, Barcelona Supercomputing Center, Barcelona, Spain;3. Laboratorio de Andrología y Banco de Semen, Instituto Valenciano de Infertilidad Valencia, Valencia, Spain |
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| Abstract: | X-ray repair cross-complementing group 1 (XRCC1) is a scaffold protein that plays a critical role in DNA base excision repair. To explore the association between XRCC1 single-nucleotide polymorphisms and infertility with idiopathic azoospermia in a northern Chinese Han population, PCR restriction fragment length polymorphism was used to genotype a SNP locus (rs25487) of XRCC1 in 112 patients with idiopathic azoospermia and 156 healthy controls. Furthermore, nucleotide sequences were sequenced. The results showed that, compared with GG genotype, the GA and GA + AA genotypes showed a significant association with an increased risk of idiopathic azoospermia (OR 2.119, 95% CI 1.245–3.606, P = 0.005), (OR 2.052, 95% CI 1.227–3.431, P = 0.006) respectively. Meanwhile, the A allele frequency was significantly higher in azoospermic patients than that in controls (OR 1.472, 95% CI 1.029–2.105, P = 0.034). The substitutions bring about an amino acid alteration: G → A changes the arginine residue into glutamine. In conclusion, the SNP locus rs25487 of XRCC1 could be a marker for genetic susceptibility to idiopathic azoospermia and the A allele might be a risk gene of idiopathic azoospermia in the northern Chinese Han population.The current study is to investigate the XRCC1 (X-ray repair cross-complementing group 1) gene single nucleotide polymorphisms and estimate their associations with idiopathic azoospermia in Northern Chinese Han population by using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method. This study reveals that SNP loci (rs25487) of XRCC1 gene could be a marker for genetic susceptibility to idiopathic azoospermia and the A allele might be a risk gene of idiopathic azoospermia in Northern Chinese Han population. Further research on this issue is still necessary. |
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