PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly associated with nonobstructive azoospermia susceptibility

Abstract

Purpose Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. A previous Chinese genomewide single-nucleotide polymorphism (SNP) association studies have identified four SNPs (rs12097821 in PRMT6 gene, rs2477686 in PEX10 gene, rs6080550 in SIRPA-SIRPG, and rs10842262 in SOX5 gene) as being significantly associated with risk factors for nonobstructive azoospermia (NOA). However, the results were not fully repeated in later studies, which calls for further investigations. Methods We here performed a case-control study in a central Chinese population to explore the association between the four SNPs and male infertility, which included 631 infertile men (NOA and oligozoospermia) and 720 healthy fertile men. The genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism and confirmed by sequencing. Results The results showed that rs12097821 and rs10842262 were strongly associated with the risk of NOA but not total male infertility or oligozoospermia, while rs2477686 and rs6080550 were not associated with the risk of total male infertility, NOA, or oligozoospermia. To improve the statistical strength, a meta-analysis was conducted. The results suggested that rs2477686, rs6080550, and rs10842262 were significantly associated with male infertility, especially with NOA, while rs12097821 was only found to be associated with total male infertility. Conclusions Collectively, the rs2477686, rs6080550, and rs10842262 may indeed be the genetic risk factors for NOA, which requires further investigation using larger independent sets of samples in different ethnic populations.

Age-related DNA methylation changes are sex-specific: a comprehensive assessment

“…PEX10 (Peroxisomal Biogenesis Factor 10) encodes for a protein localized to the peroxisomal membrane and involved in the import of peroxisomal matrix proteins. The gene is highly expressed in testis, and a metaanalysis suggests that PEX10 polymorphisms are associated with male infertility, especially with nonobstructive azoospermia susceptibility [40]. PRR4 gene encodes for Proline-rich protein 4, a poorly characterized protein with very low expression in most human tissues, except for tear fluid [41].…”

Association of ESX1 gene variants with non-obstructive azoospermia in Chinese males

“…The etiology of NOA includes genetic abnormalities, and infectious and environmental causes 2 – 4 . A few studies have reported that genetic factors are involved in the development of NOA, including Y-chromosome microdeletions and rare mutations, based on familiar case reports and mouse model analysis 5 – 9 . However, the molecular basis of NOA is still poorly understood.…”

CircRNA expression profile and functional analysis in testicular tissue of patients with non-obstructive azoospermia

“…The world Health Organization estimate that 10–15% of couples struggle with infertility issues and male factors account for about half of all infertility cases [2, 3] Unfortunately, nearly 60–75% of male infertility is unexplained or idiopathic, since the molecular mechanisms underlying the defects remain unknown [4, 5]. Non-obstructive azoospermia (NOA) is the most severe manifestation of male infertility which spermatogenesis process is disrupted [6, 7], it affects 1% of males and 10% of those who seek fertility assistance [8]. It also demonstrated that NOA accounts for approximately 60% azoospermia in which spermatogenesis process is inactive and thus sperm cells are not generated [9].…”