Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients

Dongliang Zhu,Yuting Jiang,Xiaojun Liu,Tao Feng,Guirong Zhang,Ruizhi Liu,Ruixue Wang,Hongguo Zhang

doi:10.1042/bsr20181450

Dongliang Zhu, Yuting Jiang + Show 6 more

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https://doi.org/10.1042/bsr20181450

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Abstract

Summary: Reduced or no progressive sperm motility in the fresh ejaculate defines asthenozoospermia as one of the major causes of male infertility. The axonemal heavy chain dynein type 11 (DNAH11) gene encodes for one of the axonemal dynein heavy chain (DHC) family members and participates in assembling respiratory cilia and sperm flagella. Given the high degree of conservation of DNAH11, mutations could give rise to primary ciliary dyskinesia (PCD) and asthenozoospermia. To date, few studies have reported on the association between variants in DNAH11 and asthenozoospermia. In the present study, 87 patients with idiopathic asthenozoospermia for variants in DNAH11 were screened by using high-throughput targeted gene sequencing technology. Bioinformatics analysis was further assessed. We found compound heterozygous variants (c.9484-1 G>T, c.12428 T>C) of DNAH11 detected in 1 of 87 patients. The variant c.9484-1 G>T was confirmed as a novel virulence variant which was predicted to affect splicing by Human Splicing Finder 3.1. And c.12428 T>C was predicted to be mildly pathogenic in silico analysis. We found that DNAH11 polymorphisms display strong associations with asthenozoospermia, and may contribute to an increased risk of male infertility in Chinese patients.

Highlights

Male factor infertility is a serious worldwide problem and accounts for 50% of cases of infertility [1]
Previous studies have shown that the exonal single nucleotide polymorphism (SNP) rs1893316 in cation channel of sperm associated 1 (CATSPER1), tektin-t (R207H) gene polymorphism, prostate and testis 1 (PATE1) variant (A1423G), endothelial nitric oxide synthase (Glu298Asp) gene polymorphism may be associated with asthenozoospermia risk [4,5,6,7]
The patient was 44 years old, had a 12-year history of infertility and no children. He was diagnosed as asthenozoospermia (PR, 5.26%; total motility, 21.05%) with combined oligo-teratozoospermia (Table 2)

Summary

Introduction

Male factor infertility is a serious worldwide problem and accounts for 50% of cases of infertility [1]. The most common feature is abnormal semen quality. Four major semen anomalies, including azoospermia, oligozoospermia, asthenospermia and teratospermia, are present in almost 90% of infertile males [2]. Asthenozoospermia is the second major cause of male infertility just inferior to oligozoospermia, and is characterized by reduced motility or the lack of progressive sperm motility in fresh ejaculates [3]. Many factors are related to asthenospermia, in which genetic factors are getting more and more attention. Previous studies have shown that the exonal single nucleotide polymorphism (SNP) rs1893316 in cation channel of sperm associated 1 (CATSPER1), tektin-t (R207H) gene polymorphism, prostate and testis 1 (PATE1) variant (A1423G), endothelial nitric oxide synthase (eNOS) (Glu298Asp) gene polymorphism may be associated with asthenozoospermia risk [4,5,6,7]

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