The c.−190 C&gt;A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia

Jamali, S.H.; Karimian, Mohammad; Nikzad, Hossein; Aftabi, Younes

doi:10.1007/s11033-016-4017-8

Cited by 22 publications

(20 citation statements)

References 47 publications

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Section: Discussionmentioning

confidence: 99%

“…Jamali, Karimian, Nikzad, and Aftabi () assessed the PRM1 c.‐190 C>A polymorphism and its association with semen parameters. Their results showed similarity to the present study as there was a significant association between ‐190CA and ‐190AA genotypes with oligozoospermia (Jamali et al, ). In addition, the study found no association between the g.298 G>C transversions that occur in PRM2 genes with oligozoospermia (Jamali et al, ).…”

Section: Discussionmentioning

confidence: 99%

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The c.‐190 C>A transversion in promoter region of protamine 1 gene as a genetic risk factor in Egyptian men with idiopathic infertility

et al. 2019

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Protamines are considered the most important structure in the sperm nucleus, and they are proteins with a significantly large amount of amino acids carrying a positive charge, which allows the formation of the tight package of the genomic DNA in the spermatozoa. Many authors studied the abnormalities in the protamine 1 (PRM1) and/or protamine 2 (PRM2) genes and reported their possible association with male infertility. The chromosome 16 (16p13.2) carries these genes containing multiple undiscovered single nucleotide polymorphisms. The aim of the present study was to investigate the association of c.‐190 C>A transversions that occur in PRM1 with idiopathic infertility in a sample of Egyptian men. It was a case–control study, and blood samples were collected from sixty male patients complaining of idiopathic infertility and forty healthy fertile males. The c.‐190 C>A transversion in promotor region protamine 1 gene (rs2301365) was assessed by 5' nuclease assay, using Rotor‐Gene Q real‐time PCR system. The results of the present study revealed that CA and AA genotypes in PRM1 gene were associated significantly with low sperm concentration and decreased sperm motility (p = 0.001). Cases carrying A allele had a 6.05‐fold increased risk for idiopathic infertility than cases carrying the C allele (OR: 6.05, 95% CI: 2.038–17.98 p statistically significant ≤0.05). Analysis of the results revealed that the c.‐190 C>A transversion may be involved in the development of male infertility.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The c.‐190 C>A transversion in promoter region of protamine 1 gene as a genetic risk factor in Egyptian men with idiopathic infertility

et al. 2019

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“…For rs1646022, nine studies were selected from 2003 to 2016, which met our inclusion criteria, including 1558 cases and 1137 controls (Aoki, Christensen, Atkins, & Carrell, ; Grassetti et al., ; Jamali et al., ; Jodar et al., ; Li et al., ; Tanaka et al., ; Tüttelmann et al., ; Venkatesh et al., ; Yang et al., ). No significant correlation of this SNP, located in the intronic area of the PRM2 gene in chromosome 16p13.2, was observed with male sterility in our overall analysis using a variety of different models.…”

Section: Discussionmentioning

confidence: 99%

“…Infertility is the inability to become pregnant after 1 year of unprotected intercourse and affects approximately 10%–15% of couples; 20% of these cases involve male factors while 40% involve both male and female factors (Agarwal, Mulgund, Hamada, & Chyatte, ; Jiang, Sun, et al., ; Jiang, Zhang, Xia, & Xu, ; Pan et al., ; Yang, Liu, Li, Song, & Tan, ). Spermiogenesis is the process in which male germ cells differentiate from haploid round spermatids to motile spermatozoa with flagella (Jamali, Karimian, Nikzad, & Aftabi, ; Liu et al., ). This is a process in which first transition proteins sequentially replace the majority of the core histones to allow protamines (PRM) to facilitate the hyper compaction of chromatin (Neto, Bach, Najari, Li, & Goldstein, ).…”

Section: Introductionmentioning

confidence: 99%

Systematic review and meta‐analysis of the genetic association between protamine polymorphism and male infertility

et al. 2018

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While several previous studies have proposed an association between male infertility and protamine polymorphism, the reported findings have shown some inconsistency. To evaluate the potential association between the two most common single nucleotide polymorphisms (rs2301365 and rs1646022) in protamine and male infertility, we performed a meta-analysis involving 2713 cases and 2086 controls from 15 published case-controlled studies. Overall, our analysis showed significant associations between the specific protamine single-nucleotide polymorphism (rs2301365) and male infertility, and this association was indicated by all of the models we tested. Subgroup analysis revealed significant associations with a Caucasian background, PCR sequence, population-based, case size of > 150 and case size of < 150 subgroups. Similarly, significant associations were found between rs1646022 and male infertility in the hospital population and case size of < 200 subgroups. However, trial sequential analysis showed that the number of patients in the study did not reach optimal information size. Further studies with larger sample sizes are now warranted to clarify the potential roles of the two protamine polymorphisms in the pathogenesis of male infertility. This may help us to understand the precise molecular mechanisms underlying the effect of protamines upon male infertility.

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“…The mentioned changes are evaluated by bioinformatics tools. Some previous reports revealed that bioinformatics was an effective device to assess molecular biology and specially to examine the molecular effects of gene polymorphisms (Jamali et al, 2016;Soleimani et al, 2017;Zamni-Badi et al, 2018b;Teimouri et al, 2018;Mobasseri et al, 2019). Therefore, in silico tools were employed in this study to evaluate the effects of C524T polymorphisms on the MTRR molecular aspects.…”

Section: Genetic Association Analysismentioning

confidence: 99%

Methionine Synthase Reductase-A66G and -C524T Single Nucleotide Polymorphisms and Prostate Cancer: A Case-Control Trial

Basir

2019

Asian Pac J Cancer Prev

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Purpose: Some variations in the sequence of methionine synthase reductase (MTRR) gene can increase the risk of various cancers such as prostate cancer. The aim of this study was to investigate the association between prostate cancer and the MTRR A66G and C524T gene single nucleotide polymorphisms (SNPs) using an in silico analysis. Methods:In this case-control study, 218 Iranian men, including 108 men with prostate cancer and 110 prostate cancer-free men, were enrolled. The MTRR A66G and C524T genotyping was performed by PCR-RFLP. Some of the bioinformatics tools were employed for the evaluation of polymorphism on the molecular aspects of the MTRR. Results: With regard to the MTRR A66G polymorphism, the genotype AG (OR: 0.85, 95% CI: 0.47-1.54, p= 0.6014), genotype GG (OR: 0.89, 95% CI: 0.42-1.87, p= 0.7512), and allele G (OR: 0.92, 95% CI: 0.63-1.35, p= 0.6686) were not associated with prostate cancer risk. However, the data for C524T SNP showed that the genotype CT was associated with prostate cancer risk (OR: 1.92, 95% CI: 1.06-3.47, p= 0.0308). Further, carriers of the allele T (OR: 1.80, 95% CI: 1.04-3.13, p= 0.0358) were associated with high risk of prostate cancer. In addition, bioinformatics analysis revealed that C524T SNP could affect some molecular aspects of the protein structure, while having no effect on the mRNA structure. Conclusion: The MTRR C524T is a genetic risk factor for prostate cancer; however, the MTRR A66G is not suggested as a suitable biomarker for prostate cancer. To obtain more reliable results, further studies are recommended to use larger sample sizes and investigate the effects of environmental factors.

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The c.−190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia

Cited by 22 publications

References 47 publications

The c.‐190 C>A transversion in promoter region of protamine 1 gene as a genetic risk factor in Egyptian men with idiopathic infertility

The c.‐190 C>A transversion in promoter region of protamine 1 gene as a genetic risk factor in Egyptian men with idiopathic infertility

Systematic review and meta‐analysis of the genetic association between protamine polymorphism and male infertility

Methionine Synthase Reductase-A66G and -C524T Single Nucleotide Polymorphisms and Prostate Cancer: A Case-Control Trial

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