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

Liu, Shuyuan; Zhang, Changjun; Haiying, Peng; Sun, Hao; Lin, Keqin; Huang, Xiaoqin; Huang, Kai; Chu, Jiayou; Yang, Zhaoqing

doi:10.4103/1008-682x.178850

Cited by 21 publications

(3 citation statements)

References 28 publications

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“…Liu et al 49 have reported that five SNPs (rs215702, rs6476866, rs10129954, rs2477686 and rs10841496) were significantly correlated with sperm progressive motility. However, present study did not detect the variants associated with sperm motility including the region 400 kb upstream and downstream of these five SNPs.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men

et al. 2018

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BackgroundThe decrease in sperm motility has a potent influence on fertilisation. Sperm motility, represented as the percentage of motile sperm in ejaculated sperms, is influenced by lifestyle habits or environmental factors and by inherited factors. However, genetic factors contributing to individual differences in sperm motility remain unclear. To identify genetic factors that influence human sperm motility, we performed a genome-wide association study (GWAS) of sperm motility.MethodsA two-stage GWAS was conducted using 811 Japanese men in a discovery stage, followed by a replication study using an additional 779 Japanese men.ResultsIn the two-staged GWAS, a single nucleotide polymorphism rs3791686 in the intron of gene for erb-b2 receptor tyrosine kinase 4 (ERBB4) on chromosome 2q34 was identified as a novel locus for sperm motility, as evident from the discovery and replication results using meta-analysis (β=−4.01, combined P=5.40×10−9).ConclusionsTogether with the previous evidence that Sertoli cell-specific Erbb4-knockout mice display an impaired ability to produce motile sperm, this finding provides the first genetic evidence for further investigation of the genome-wide significant association at the ERBB4 locus in larger studies across diverse human populations.

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Section: Discussionmentioning

confidence: 99%

Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men

et al. 2018

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“…Nevertheless, the power was reduced in our sub-phenotype analyses as a consequence of a decrease in the cohort sizes. Therefore, The association of PEX10-rs2477686 with male infertility and NOA was replicated by Gu et al 35 and Liu et al, 39 although additional replication efforts did not confirm this NOA-associated signal.…”

Section: Detection Of Covid-19 In the Male Reproductive Tractmentioning

confidence: 95%

“…Furthermore, the sample size of our study cohort was in the same range of the large replication studies in Asian populations already published. [35][36][37][38][39] However, it should be noted that the sub-phenotype analyses were performed in lower study cohorts, which reduced considerably the statistical power. Moreover, all the associations described here would be lost if multiple testing correction were applied.…”

Section: Detection Of Covid-19 In the Male Reproductive Tractmentioning

confidence: 99%

Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort

et al. 2021

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YAO et Al. | INTRODUC TI ONSince the first case of coronavirus disease 2019 , caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), was reported in Wuhan, China, it has rapidly spread and affected more than 21 million people worldwide as of 17 August 2020. 1 SARS-CoV-2 uses angiotensin-converting enzyme II (ACE2) to enter host cells, similar to SARS-CoV, which emerged 18 years ago. 2 COVID-19 induces respiratory-predominant multiorgan dysfunction, including myocardial, renal, enteric and hepatic dysfunction, which coincides with the tissue expression of ACE2. 3 Meanwhile, several studies have shown that ACE2 is expressed in human testes (eg spermatogonia, Leydig cells and Sertoli cells), 4,5 suggesting that the testes may be another organ affected by COVID-19.Numerous viruses have been detected in human semen. 6 Viruses may persist in semen and last longer in seminal fluid than in other body fluids due to the immune privilege of the testes and the contribution of the blood-testes barrier to resistance to therapeutic agents. 7,8 Semen may also have higher loads of viruses, such as Zika virus, than blood. 9,10 Therefore, the testes may act as a reservoir of virus, which may cause imprecise evaluation of viral clearance in patients. Viruses, including Zika virus, Ebola virus, cytomegalovirus and human immunodeficiency virus (HIV), have been isolated from semen and can be sexually transmitted. 6,11,12 Furthermore, some viruses (eg HIV, Zika virus, herpes simplex virus (HSV) and human papillomavirus) can adhere to or be internalized by spermatozoa, 7,13 which may pose a risk for embryonic infection and cause adverse reproductive outcomes.On the other hand, many viruses, such as mumps virus, HIV and HSV, 7,14 have been found to impair semen quality, and they may directly interact with spermatozoa or affect spermatogenesis by inducing local inflammation. [15][16][17] Previous studies found that SARS, 1 of the 3 epidemic coronaviruses to emerge in the past 20 years and that shows similar clinical presentations to COVID-19, 18 could cause orchitis 19 and focal testicular atrophy. 20 Considering the tens of millions of COVID-19 cases and that men are more vulnerable to COVID-19 than women, [21][22][23] it is imperative to determine the effect of COVID-19 on male reproduction. 24 Several studies have been performed on this topic. However, the results are controversial. For example, some researchers have reported that SARS-CoV-2 was not detected in the male reproductive tract, [25][26][27][28][29][30][31][32][33][34] while others reported that SARS-CoV-2 RNA was found in the semen or testes of COVID-19 patients. 35,36 There are also unknown factors regarding COVID-19 and male reproduction.Orchitis and broad destruction of the testes were found in deceased COVID-19 patients, 35,37 while the pathological characteristics in survivors remain unknown. In this review, we summarize the current research focusing on the effects of COVID-19 on male reproduction from the following 3 aspects: detection of SARS-CoV-2 in...

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The dynamics of gene expression during and post meiosis sets the sperm agenda

Pandey

Yadav

Vishvkarma

et al. 2019

Molecular Reproduction Devel

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Meiosis is the defining event of spermatogenesis. Spermatocytes undergo meiosis to give rise to round spermatids, which in turn metamorphose to flagellated spermatozoa that mature in the epididymis. To characterize the dynamics of gene expression during these important stages of spermatogenesis, we undertook transcriptome analysis in >90% pure pachytene spermatocytes and round spermatids, and pure mature sperm of rat by massive parallel deep sequencing. The study has identified 10,719 total transcripts expressed in meiotic and postmeiotic cells, out of which 7,641 were present in all the three cell types. Most abundant transcripts were related to gametogenesis in spermatocytes and spermatids, and mitochondrial energy metabolism in sperm. Importantly, 108 transcripts were specific to spermatocytes, including Cpeb2, Dpf3, H2afy, Haus7, Plcb1, Taf9, and Tdrd7 strongly linked with meiosis. Similarly, 323 transcripts unique to round spermatids included Arpc5, Apoa1, Cntrob, Dcaf17, Ift88, and Ly6k that play essential roles in spermiogenesis. Likewise, 178 transcripts unique to sperm included Camta1, Hoxb1, and Prdx6 having assigned roles in fertility and/or embryonic development. Levels of ~16% transcripts declined from spermatocytes to sperm while two (Cd300e and Ddx17) increased. New candidate genes with possible roles in meiosis (91), spermiogenesis (298), and sperm function (171), have been identified. This study has provided new potential targets for contraception and/or treatment of male infertility. (CDRI communication number 9889).

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

Cited by 21 publications

References 28 publications

Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men

Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men

Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort

The dynamics of gene expression during and post meiosis sets the sperm agenda

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