ArticleHuman molecular genetics2015
Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.
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Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.Reproductive biology and endocrinology : RB&E · 2025Pooled it
- Genome-wide association study identifiesJournal of medical genetics · 2018Pooled it
- CRISPR/Cas9-mediated genome editing identifies six testis-expressed genes individually dispensable for overt male fecundity in mice.Journal of biomedical research · 2026Article
- Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation.Journal of cellular and molecular medicine · 2026Article
- Is Male Infertility an Early Warning of More Serious Diseases?Endocrinology · 2026Review
- Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.Annals of hematology · 2023Article
- Unlocking the mystery associated with infertility and prostate cancer: an update.Medical oncology (Northwood, London, England) · 2023Review
- Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.Journal of assisted reproduction and genetics · 2022Article
- Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.Journal of clinical medicine · 2021Review
- Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.Journal of clinical medicine · 2020Review
- Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.Nature communications · 2019Article
- Clinical Features of Chromosome 6 Translocation in Male Carriers: A Report of 10 Cases and Review of the Literature.Medical science monitor : international medical journal of experimental and clinical research · 2018Review
- Genetics of male infertility.Nature reviews. Urology · 2018Review
- Genetic intersection of male infertility and cancer.Fertility and sterility · 2018Review
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Authors and funding
38 authors.
Bixian NiState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Yuan LinState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Liangdan SunInstitute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China, Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui 230022, China.
Meng ZhuDepartment of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Zheng LiShanghai Human Sperm Bank, Department of Urology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Hui WangDepartment of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Jun YuState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, China.
Xuejiang GuoState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, China.
Xianbo ZuoInstitute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China, Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui 230022, China.
Jing DongDepartment of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Yankai XiaState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Toxicology and Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 211166, China.
Yang WenState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Hao WuState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, China.
Honggang LiFamily Planning Research Institute, Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430032, China.
Yong ZhuShanghai Human Sperm Bank, Department of Urology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Ping PingShanghai Human Sperm Bank, Department of Urology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Xiangfeng ChenShanghai Human Sperm Bank, Department of Urology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Juncheng DaiDepartment of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Yue JiangState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Peng XuJinghua Hospital, Shenyang Dongfang Medical Group, Shenyang 110004, China.
Qiang DuDepartment of Reproduction, Shengjing Hospital, China Medical University, Shenyang 110004, China.
Bing YaoDepartment of Andrology, Nanjing Jinling Hospital, Nanjing 210029, China.
Ning WengJinghua Hospital, Shenyang Dongfang Medical Group, Shenyang 110004, China.
Hui LuShanghai Human Sperm Bank, Department of Urology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Zhuqing WangShanghai Human Sperm Bank, Department of Urology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Xiaobin ZhuShanghai Human Sperm Bank, Department of Urology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Xiaoyu YangState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Center of Clinical Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China.
Chenliang XiongFamily Planning Research Institute, Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430032, China.
Hongxia MaDepartment of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Guangfu JinDepartment of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and.
Jianfeng XuDepartment of Urology, Huashan Hospital, Shanghai 200052, China.
Xinru WangState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Toxicology and Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 211166, China.
Zuomin ZhouState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, China.
Jiayin LiuState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Center of Clinical Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China.
Xuejun ZhangInstitute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China, Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui 230022, China.
Donald F ConradDepartment of Genetics, Washington University School of Medicine, St Louis, MO 63110, USA, Department of Pathology & Immunology, Washington University School of Medicine, St Louis, MO 63110, USA.
Zhibin HuState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center For Cancer Personalized Medicine, School of Public Health and State Key Laboratory of Genetic Engineering, Collaborative Innovation Center of Genetics and Development, Institute of Plant Biology, School of Life Sciences, Fudan University, Shanghai 200052, China, zhibin_hu@njmu.edu.cn shajh@njmu.edu.cn.
Jiahao ShaState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China, Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, China, zhibin_hu@njmu.edu.cn shajh@njmu.edu.cn.
Funding
GENOMICS OF SPERMATOGENIC IMPAIRMENTR01HD078641 · NICHD · WASHINGTON UNIVERSITY · PI Kenneth Ivan Aston, DONALD F. CONRAD · 2014 to 2026
$6.3MNICHD NIH HHS L50 HD070397NICHD NIH HHS R01 HD078641
Abstract
Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF below 0.5%) variants. Here, we performed a 3-stage exome-wide association study in Han Chinese men to evaluate the role of low-frequency or rare germline variants in NOA development. The discovery stage included 962 NOA cases and 1348 healthy male controls genotyped by exome chips and was followed by a 2-stage replication with an additional 2168 cases and 5248 controls. We identified three low-frequency variants located at 6p22.2 (rs2298090 in HIST1H1E encoding p.Lys152Arg: OR = 0.30, P = 2.40 × 10(-16)) and 6p21.33 (rs200847762 in FKBPL encoding p.Pro137Leu: OR = 0.11, P = 3.77 × 10(-16); rs11754464 in MSH5: OR = 1.78, P = 3.71 × 10(-7)) associated with NOA risk after Bonferroni correction. In summary, we report an instance of newly identified signals for NOA risk in genes previously undetected through GWAS on 6p22.2-6p21.33 in a Chinese population and highlight the role of low-frequency variants with a large effect in the process of spermatogenesis.
Indexed as
Germ-Line MutationAsian PeopleAzoospermiaChinaChromosomes, Human, Pair 6ExomeGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single Nucleotide
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