Literature DB >> 22197933

A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.

Zhibin Hu1, Yankai Xia, Xuejiang Guo, Juncheng Dai, HongGang Li, Hongliang Hu, Yue Jiang, Feng Lu, Yibo Wu, Xiaoyu Yang, Huizhang Li, Bing Yao, Chuncheng Lu, Chenliang Xiong, Zheng Li, Yaoting Gui, Jiayin Liu, Zuomin Zhou, Hongbing Shen, Xinru Wang, Jiahao Sha.   

Abstract

Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men.

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Year:  2011        PMID: 22197933     DOI: 10.1038/ng.1040

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  45 in total

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3.  A genome-wide association study of global gene expression.

Authors:  Anna L Dixon; Liming Liang; Miriam F Moffatt; Wei Chen; Simon Heath; Kenny C C Wong; Jenny Taylor; Edward Burnett; Ivo Gut; Martin Farrall; G Mark Lathrop; Gonçalo R Abecasis; William O C Cookson
Journal:  Nat Genet       Date:  2007-09-16       Impact factor: 38.330

4.  The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population.

Authors:  Chuncheng Lu; Jie Zhang; Yingchun Li; Yankai Xia; Feng Zhang; Bin Wu; Wei Wu; Guixiang Ji; Aihua Gu; Shoulin Wang; Li Jin; Xinru Wang
Journal:  Hum Mol Genet       Date:  2008-12-16       Impact factor: 6.150

5.  Regulation of IkappaBbeta expression in testis.

Authors:  Lucy M Budde; Chun Wu; Christopher Tilman; Iris Douglas; Sankar Ghosh
Journal:  Mol Biol Cell       Date:  2002-12       Impact factor: 4.138

6.  Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation.

Authors:  Gaetano Zafarana; Ad J M Gillis; Ruud J H L M van Gurp; Per G Olsson; Fons Elstrodt; Hans Stoop; José Luis Millán; J Wolter Oosterhuis; Leendert H J Looijenga
Journal:  Cancer Res       Date:  2002-03-15       Impact factor: 12.701

7.  Polymorphism in Sirpa modulates engraftment of human hematopoietic stem cells.

Authors:  Katsuto Takenaka; Tatiana K Prasolava; Jean C Y Wang; Steven M Mortin-Toth; Sam Khalouei; Olga I Gan; John E Dick; Jayne S Danska
Journal:  Nat Immunol       Date:  2007-11-04       Impact factor: 25.606

8.  Reduced fertility in male mice deficient in the zinc metallopeptidase NL1.

Authors:  Mélanie Carpentier; Christine Guillemette; Janice L Bailey; Guy Boileau; Lucie Jeannotte; Luc DesGroseillers; Jean Charron
Journal:  Mol Cell Biol       Date:  2004-05       Impact factor: 4.272

Review 9.  Understanding new genetics of male infertility.

Authors:  Maria Rosa Maduro; Dolores J Lamb
Journal:  J Urol       Date:  2002-11       Impact factor: 7.450

10.  Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.

Authors:  Mark P Purdue; Mattias Johansson; Diana Zelenika; Jorge R Toro; Ghislaine Scelo; Lee E Moore; Egor Prokhortchouk; Xifeng Wu; Lambertus A Kiemeney; Valerie Gaborieau; Kevin B Jacobs; Wong-Ho Chow; David Zaridze; Vsevolod Matveev; Jan Lubinski; Joanna Trubicka; Neonila Szeszenia-Dabrowska; Jolanta Lissowska; Péter Rudnai; Eleonora Fabianova; Alexandru Bucur; Vladimir Bencko; Lenka Foretova; Vladimir Janout; Paolo Boffetta; Joanne S Colt; Faith G Davis; Kendra L Schwartz; Rosamonde E Banks; Peter J Selby; Patricia Harnden; Christine D Berg; Ann W Hsing; Robert L Grubb; Heiner Boeing; Paolo Vineis; Françoise Clavel-Chapelon; Domenico Palli; Rosario Tumino; Vittorio Krogh; Salvatore Panico; Eric J Duell; José Ramón Quirós; Maria-José Sanchez; Carmen Navarro; Eva Ardanaz; Miren Dorronsoro; Kay-Tee Khaw; Naomi E Allen; H Bas Bueno-de-Mesquita; Petra H M Peeters; Dimitrios Trichopoulos; Jakob Linseisen; Börje Ljungberg; Kim Overvad; Anne Tjønneland; Isabelle Romieu; Elio Riboli; Anush Mukeria; Oxana Shangina; Victoria L Stevens; Michael J Thun; W Ryan Diver; Susan M Gapstur; Paul D Pharoah; Douglas F Easton; Demetrius Albanes; Stephanie J Weinstein; Jarmo Virtamo; Lars Vatten; Kristian Hveem; Inger Njølstad; Grethe S Tell; Camilla Stoltenberg; Rajiv Kumar; Kvetoslava Koppova; Olivier Cussenot; Simone Benhamou; Egbert Oosterwijk; Sita H Vermeulen; Katja K H Aben; Saskia L van der Marel; Yuanqing Ye; Christopher G Wood; Xia Pu; Alexander M Mazur; Eugenia S Boulygina; Nikolai N Chekanov; Mario Foglio; Doris Lechner; Ivo Gut; Simon Heath; Hélène Blanche; Amy Hutchinson; Gilles Thomas; Zhaoming Wang; Meredith Yeager; Joseph F Fraumeni; Konstantin G Skryabin; James D McKay; Nathaniel Rothman; Stephen J Chanock; Mark Lathrop; Paul Brennan
Journal:  Nat Genet       Date:  2010-12-05       Impact factor: 38.330

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  58 in total

1.  Susceptibility to male infertility: replication study in Japanese men looking for an association with four GWAS-derived loci identified in European men.

Authors:  Makoto Chihara; Kosuke Yoshihara; Tatsuya Ishiguro; Yuki Yokota; Sosuke Adachi; Hiroyuki Okada; Katsunori Kashima; Takaaki Sato; Atsushi Tanaka; Kenichi Tanaka; Takayuki Enomoto
Journal:  J Assist Reprod Genet       Date:  2015-04-07       Impact factor: 3.412

2.  Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

Authors:  Bixian Ni; Yuan Lin; Liangdan Sun; Meng Zhu; Zheng Li; Hui Wang; Jun Yu; Xuejiang Guo; Xianbo Zuo; Jing Dong; Yankai Xia; Yang Wen; Hao Wu; Honggang Li; Yong Zhu; Ping Ping; Xiangfeng Chen; Juncheng Dai; Yue Jiang; Peng Xu; Qiang Du; Bing Yao; Ning Weng; Hui Lu; Zhuqing Wang; Xiaobin Zhu; Xiaoyu Yang; Chenliang Xiong; Hongxia Ma; Guangfu Jin; Jianfeng Xu; Xinru Wang; Zuomin Zhou; Jiayin Liu; Xuejun Zhang; Donald F Conrad; Zhibin Hu; Jiahao Sha
Journal:  Hum Mol Genet       Date:  2015-07-21       Impact factor: 6.150

3.  Ubiquitin-specific protease 26 (USP26) is not essential for mouse gametogenesis and fertility.

Authors:  Natalia Felipe-Medina; Laura Gómez-H; Yazmine B Condezo; Manuel Sanchez-Martín; José Luis Barbero; Isabel Ramos; Elena Llano; Alberto M Pendás
Journal:  Chromosoma       Date:  2019-03-18       Impact factor: 4.316

4.  X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.

Authors:  Alexander N Yatsenko; Andrew P Georgiadis; Albrecht Röpke; Andrea J Berman; Thomas Jaffe; Marta Olszewska; Birgit Westernströer; Joseph Sanfilippo; Maciej Kurpisz; Aleksandar Rajkovic; Svetlana A Yatsenko; Sabine Kliesch; Stefan Schlatt; Frank Tüttelmann
Journal:  N Engl J Med       Date:  2015-05-13       Impact factor: 91.245

5.  Ubiquitination-Deficient Mutations in Human Piwi Cause Male Infertility by Impairing Histone-to-Protamine Exchange during Spermiogenesis.

Authors:  Lan-Tao Gou; Jun-Yan Kang; Peng Dai; Xin Wang; Feng Li; Shuang Zhao; Man Zhang; Min-Min Hua; Yi Lu; Yong Zhu; Zheng Li; Hong Chen; Li-Gang Wu; Dangsheng Li; Xiang-Dong Fu; Jinsong Li; Hui-Juan Shi; Mo-Fang Liu
Journal:  Cell       Date:  2017-05-25       Impact factor: 41.582

6.  A dominant-negative mutation of HSF2 associated with idiopathic azoospermia.

Authors:  Lisha Mou; Yadong Wang; Honggang Li; Yi Huang; Tao Jiang; Weiren Huang; Zesong Li; Jing Chen; Jun Xie; Yuchen Liu; Zhimao Jiang; Xianxin Li; Jiongxian Ye; Zhiming Cai; Yaoting Gui
Journal:  Hum Genet       Date:  2012-10-14       Impact factor: 4.132

Review 7.  Environmentally induced epigenetic transgenerational inheritance of male infertility.

Authors:  Carlos Guerrero-Bosagna; Michael K Skinner
Journal:  Curr Opin Genet Dev       Date:  2014-08-11       Impact factor: 5.578

8.  Major spliceosome defects cause male infertility and are associated with nonobstructive azoospermia in humans.

Authors:  Hao Wu; Liwei Sun; Yang Wen; Yujuan Liu; Jun Yu; Feiyu Mao; Ya Wang; Chao Tong; Xuejiang Guo; Zhibin Hu; Jiahao Sha; Mingxi Liu; Laixin Xia
Journal:  Proc Natl Acad Sci U S A       Date:  2016-03-28       Impact factor: 11.205

9.  HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patients.

Authors:  Timothy A Jinam; Hirofumi Nakaoka; Kazuyoshi Hosomichi; Shigeki Mitsunaga; Hiroyuki Okada; Atsushi Tanaka; Kenichi Tanaka; Ituro Inoue
Journal:  Hum Genet       Date:  2013-08-10       Impact factor: 4.132

10.  Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI.

Authors:  Sanjukta Sen; Abhijit Dixit; Chitra Thakur; Jyotsna Gokral; Indira Hinduja; Kusum Zaveri; Kumarasamy Thangaraj; Deepak Modi
Journal:  J Assist Reprod Genet       Date:  2013-08-11       Impact factor: 3.412

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