Home  |   Archive  |   Online Submission  |   News & Events  |   Subscribe  |   APFA  |   Society  |   Contact Us  |   中文版
Search   
 
Journal

Ahead of print
Authors' Accepted
    Manuscripts
new!
Current Issue
Archive
Acknowledgments
Special Issues
Browse by Category

Manuscript Submission

Online Submission
Online Review
Instruction for Authors
Instruction for Reviewers
English Corner new!

About AJA

About AJA
Editorial Board
Contact Us
News

Resources & Services

Advertisement
Subscription
Email alert
Proceedings
Reprints

Download area

Copyright licence
EndNote style file
Manuscript word template
Guidance for AJA figures
    preparation (in English)

Guidance for AJA figures
    preparation (in Chinese)

Proof-reading for the
    authors

AJA Club (in English)
AJA Club (in Chinese)

 
Abstract

Volume 19, Issue 4 (July 2017) 19, 486–492; DOI:10.4103/1008-682X.178850

Strong association of SLC1A1 and DPF3 gene variants with idiopathic male infertility in Han Chinese

Shu-Yuan Liu1, Chang-Jun Zhang2, Hai-Ying Peng2, Hao Sun1, Ke-Qin Lin1, Xiao-Qin Huang1, Kai Huang1, Jia-You Chu1, Zhao-Qing Yang1

1 Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming 650118, China
2 Reproductive Medical Research Centre, People's Hospital of Shiyan, Shiyan 442000, China

Correspondence: Prof. ZQ Yang (zyang@imbcams.com.cn)

Date of Submission 13-Oct-2015 Date of Decision 03-Dec-2015 Date of Acceptance 29-Jan-2016 Date of Web Publication 27-May-2016

Abstract

Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In recent years, several genome-wide single-nucleotide polymorphism (SNP) association studies (GWAS) have been performed on azoospermia and/or oligozoospermia in different populations including two GWAS on nonobstructive azoospermia in China; however, the association of SNPs with idiopathic male infertility, especially asthenozoospermia and oligozoospermia, and their correlation with semen parameters are still not clear. To investigate genetic variants associated with idiopathic male infertility (asthenozoospermia, oligozoospermia, and oligoasthenozoospermia) in Chinese Han people, 20 candidate SNPs were selected from GWAS results and genotyped using the Sequenom MassARRAY assay. A total of 136 subfertile men and 456 healthy fertile men were recruited. rs6476866 in SLC1A1 (P = 1.919E-4, OR = 0.5905, 95% CI: 0.447-0.78) and rs10129954 in DPF3 (P = 0.0023, OR = 2.199, 95% CI: 1.311-3.689) were strongly associated with idiopathic male infertility. In addition, positive associations were observed between asthenozoospermia and rs215702 in LSM5 (P = 0.0016, OR = 1.479, 95% CI: 1.075-2.033) and between oligoasthenozoospermia and rs2477686 in PEX10 (P = 0.0011, OR = 2.935, 95% CI: 1.492-5.775). In addition, six SNPs (rs215702 in LSM5, rs6476866 in SLC1A1, rs10129954 in DPF3, rs1801133 in MTHFR, rs2477686 in PEX10, and rs10841496 in PED3A) were significantly correlated with semen quality alterations. Our results suggest that idiopathic male infertility in different ethnic groups may share the same mechanism or pathway. Cohort expansion and further mechanistic studies on the role of genetic factors that influence spermatogenesis and sperm progressive motility are suggested.

Keywords: candidate SNPs; Han Chinese; idiopathic male infertility; semen quality

Full Text | PDF |

 
Browse:  1623
 
Asian Journal of Andrology CN 31-1795/R ISSN 1008-682X  Copyright © 2023  Shanghai Materia Medica, Chinese Academy of Sciences.  All rights reserved.