Variants in the SRD5A2 gene are associated with quality of semen

Zhao, Dan; Wu, Wei; Xu, Bin; Niu, Xiaobing; Cui, Hongxing; Zhang, Yi; Wang, Zengjun; Wang, Xinru

doi:10.3892/mmr.2012.965

Cited by 16 publications

(14 citation statements)

References 38 publications

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“…Furthermore, two missense polymorphisms in APPL1 and MS4A2 genes showed significant associations with post-thaw semen quality. Missense variants affect amino acid translation, protein structure and function, and several missense polymorphisms have been shown to affect enzyme activity [21]. It is reasonable to deduce that the missense polymorphisms in APPL1 (a novel predicted SNP) and MS4A2 (rs339836492) genes could have a marked effect on their protein expression levels, which could consequently compromise the sperm response to the freezing-thawing conditions.…”

Section: Snp Functional Classes and Validationmentioning

confidence: 99%

Gene Polymorphisms in Boar Spermatozoa and Their Associations with Post-Thaw Semen Quality

Mańkowska

Brym

Paukszto

et al. 2020

IJMS

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Genetic markers have been used to assess the freezability of semen. With the advancement in molecular genetic techniques, it is possible to assess the relationships between sperm functions and gene polymorphisms. In this study, variant calling analysis of RNA-Seq datasets was used to identify single nucleotide polymorphisms (SNPs) in boar spermatozoa and to explore the associations between SNPs and post-thaw semen quality. Assessment of post-thaw sperm quality characteristics showed that 21 boars were considered as having good semen freezability (GSF), while 19 boars were classified as having poor semen freezability (PSF). Variant calling demonstrated that most of the polymorphisms (67%) detected in boar spermatozoa were at the 3’-untranslated regions (3’-UTRs). Analysis of SNP abundance in various functional gene categories showed that gene ontology (GO) terms were related to response to stress, motility, metabolism, reproduction, and embryo development. Genomic DNA was isolated from sperm samples of 40 boars. Forty SNPs were selected and genotyped, and several SNPs were significantly associated with motility and membrane integrity of frozen-thawed (FT) spermatozoa. Polymorphism in SCLT1 gene was associated with significantly higher motility and plasma membrane integrity of FT spermatozoa from boars of the GSF group compared with those of the PSF group. Likewise, polymorphisms in MAP3K20, MS4A2, and ROBO1 genes were significantly associated with reduced cryo-induced lipid peroxidation and DNA damage of FT spermatozoa from boars of the GSF group. Candidate genes with significant SNP associations, including APPL1, PLBD1, FBXO16, EML5, RAB3C, OXSR1, PRICKLE1, and MAP3K20 genes, represent potential markers for post-thaw semen quality, and they might be relevant for future improvement in the selection procedure of boars for cryopreservation. The findings of this study provide evidence indicating that polymorphisms in genes expressed in spermatozoa could be considered as factors associated with post-thaw semen quality.

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Section: Snp Functional Classes and Validationmentioning

confidence: 99%

Gene Polymorphisms in Boar Spermatozoa and Their Associations with Post-Thaw Semen Quality

Mańkowska

Brym

Paukszto

et al. 2020

IJMS

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“…For example, SHBG gene polymorphisms have been shown to independently predict levels of both free (rs6259) and total T (rs1799941) at least in aging men [13]. Recently, SRD5A2 polymorphisms were also shown to influence semen quality [14].…”

Section: Introductionmentioning

confidence: 99%

Associations between Salivary Testosterone Levels, Androgen-Related Genetic Polymorphisms, and Self-Estimated Ejaculation Latency Time

et al. 2014

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IntroductionRecently, testosterone (T) has been shown to be associated with premature ejaculation (PE) symptoms in the literature. Furthermore, studies suggest that the etiology of PE is partly under genetic control.AimThe aim of this study was to reassess findings suggesting an association between testosterone (T) and a key symptom of PE, ejaculation latency time (ELT), as well as exploratively investigating associations between six androgen-related genetic polymorphisms and ELT.Materials and MethodsStatistical analyses were performed on a population-based sample of 1,429 Finnish men aged 18–45 years (M = 26.9, SD = 4.7). Genotype information was available for 1,345–1,429 of these (depending on the polymorphism), and salivary T samples were available from 384 men. Two androgen receptor gene-linked, two 5-alpha-reductase type 2-gene-linked, and two sex hormone-binding globuline gene-linked polymorphisms were genotyped.Main Outcome MeasuresEjaculatory function was assessed using self-reported ELT.ResultsWe found no association between salivary T levels and ELT. We found a nominally significant association between a 5-alpha-reductase type 2-gene-linked polymorphism (rs2208532) and ELT, but this association did not remain significant after correction for multiple testing. One single nucleotide polymorphism in the sex hormone-binding globulin gene (rs1799941) moderated (significantly after correction for multiple testing) the association between salivary T and ELT, so that A:A genotype carriers had significantly lower salivary T levels as a function of increasing ELT compared with other genotype groups.ConclusionsWe were unable to find support for the hypothesis suggesting an association between T levels and ELT, possibly because of the low number of phenotypically extreme cases (the sample used in the present study was population based). Our results concerning genetic associations should be interpreted with caution until replication studies have been conducted. Jern P, Westberg L, Ankarberg-Lindgren C, Johansson A, Gunst A, Sandnabba NK, and Santtila P. Associations between salivary testosterone levels, androgen-related genetic polymorphisms, and self-estimated ejaculation latency time. Sex Med 2014;2:107–114.

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“…respectively were identified as statistically significant to the risk of aggressive PCa when compared to healthy controls. The gene SRD5A2 has previously been reported by groups working on various aspects related to and causing PCa in Caucasian populations and not restricted only to studies discussing its role in the quality of sperms 38 . It is well established that with progressing age, there is a drop in testicular function, and thus certain genes pertaining to virility, including SRD5A2, may be functioning differentially 39 .…”

Section: Gene X Environment Interaction and Risk Of Prostate Cancer Amentioning

confidence: 99%

Effect of ageing and single nucleotide polymorphisms associated with the risk of aggressive prostate cancer in a New Zealand population

et al. 2017

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Prostate cancer is one of the most significant male health concerns worldwide, and various researchers carrying out molecular diagnostics have indicated that genetic interactions with biological and behavioral factors play an important role in the overall risk and prognosis of this disease. Single nucleotide polymorphisms are increasingly becoming strong biomarker candidates to identify the susceptibility of individuals to prostate cancer. We carried out risk association of different stages of prostate cancer to a number of single nucleotide polymorphisms to identify the susceptible alleles in a New Zealand population and checked the interaction with environmental factors as well. We identified a number of single nucleotide polymorphisms to have associations specifically to the risk of prostate cancer and aggressiveness of the disease, and also certain single nucleotide polymorphisms to be vulnerable to the reported behavioral factors. We have addressed "special" environmental conditions prevalent in New Zealand, which can be used as a model for a bigger worldwide study.

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Variants in the SRD5A2 gene are associated with quality of semen

Cited by 16 publications

References 38 publications

Gene Polymorphisms in Boar Spermatozoa and Their Associations with Post-Thaw Semen Quality

Gene Polymorphisms in Boar Spermatozoa and Their Associations with Post-Thaw Semen Quality

Associations between Salivary Testosterone Levels, Androgen-Related Genetic Polymorphisms, and Self-Estimated Ejaculation Latency Time

Effect of ageing and single nucleotide polymorphisms associated with the risk of aggressive prostate cancer in a New Zealand population

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