Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome

被引：0

作者：

Sara González-Muñoz ^{[1
]}

Yichen Long ^{[2
]}

Andrea Guzmán-Jiménez ^{[3
]}

Miriam Cerván-Martín ^{[4
]}

Inmaculada Higueras-Serrano ^{[1
]}

José A. Castilla ^{[2
]}

Ana Clavero ^{[5
]}

Nicolás Garrido ^{[1
]}

Saturnino Luján ^{[2
]}

Xiaoyu Yang ^{[6
]}

Xuejiang Guo ^{[2
]}

Jiayin Liu ^{[7
]}

Lluís Bassas ^{[8
]}

Susana Seixas ^{[9
]}

João Gonçalves ^{[9
]}

Alexandra M. Lopes ^{[3
]}

Sara Larriba ^{[10
]}

Lara Bossini-Castillo ^{[3
]}

Rogelio J. Palomino-Morales ^{[3
]}

Cheng Wang ^{[10
]}

Zhibin Hu ^{[11
]}

F. David Carmona ^{[12
]}

机构：

[1] Universidad de Granada,Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM)

[2] Instituto de Investigación Biosanitaria ibs.GRANADA,State Key Laboratory of Reproductive Medicine and Offspring Health

[3] Nanjing Medical University,Department of Epidemiology, Center for Global Health, School of Public Health

[4] Nanjing Medical University,Institute of Parasitology and Biomedicine Lopez

[5] CSIC,Neyra (IPBLN)

[6] Universidad de Granada,Departamento de Anatomía y Embriología Humana, Facultad de Medicina

[7] HU Virgen de las Nieves,Unidad de Reproducción, UGC Obstetricia y Ginecología

[8] Health Research Institute La Fe,IVIRMA Global Research Alliance. IVI Foundation

[9] Servicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe),Center of Clinical Reproductive Medicine, First Affiliated Hospital

[10] Nanjing Medical University,Laboratory of Seminology and Embryology

[11] Andrology Service-Fundació Puigvert,Instituto de Investigação e Inovação em Saúde

[12] Universidade do Porto (I3S),Departamento de Genética Humana

[13] Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP),ToxOmics

[14] Instituto Nacional de Saúde Dr. Ricardo Jorge, Centro de Toxicogenómica e Saúde Humana

[15] Nova Medical School,Center for Predictive and Preventive Genetics, Institute for Cell and Molecular Biology

[16] University of Porto,Immune

[17] L’Hospitalet de Llobregat,Inflammatory Processes and Gene Therapeutics Group, Genes, Disease and Therapy Program, Institut d’Investigació Biomèdica de Bellvitge

[18] Universidad de Granada,IDIBELL

来源：

Communications Biology | / 8卷 / 1期

关键词：

D O I：

10.1038/s42003-025-08001-2

中图分类号：

学科分类号：

摘要：

Non-obstructive azoospermia, a severe form of male infertility caused by spermatogenic failure (SPGF), has a largely unknown genetic basis across ancestries. To our knowledge, this is the first trans-ethnic meta-analysis of genome-wide association studies on SPGF, involving 2255 men with idiopathic SPGF and 3608 controls from European and Asian populations. Using logistic regression and inverse variance methods, we identify two significant genetic associations with Sertoli cell-only (SCO) syndrome, the most extreme SPGF phenotype. The G allele of rs34915133, in the major histocompatibility complex class II region, significantly increases SCO risk (P = 5.25E-10, OR = 1.57), supporting a potential immune-related cause. Additionally, the rs10842262 variant in the SOX5 gene region is also a genetic marker of SCO (P = 5.29E-09, OR = 0.72), highlighting the key role of this gene in the male reproductive function. Our findings reveal shared genetic factors in male infertility across ancestries and provide insights into the molecular mechanisms underlying SCO.

引用

共 1 条

[1] Trans-Ethnic Meta-Analysis of Genome-Wide Association Studies for Coronary Artery Disease Highlights the Importance of Immune System.
Matsunaga, Hiroshi
Ito, Kaoru
Akiyama, Masato
Koyama, Satoshi
Onouchi, Yoshihiro
Ozaki, Kouichi
Morita, Hiroyuki
Akazawa, Hiroshi
Kamatani, Yoichiro
Komuro, Issei
CIRCULATION, 2018, 138

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