The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study
Background Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage. Objective Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study w...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Shahid Sadoughi University of Medical Sciences
2019-08-01
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| Series: | International Journal of Reproductive BioMedicine |
| Subjects: | |
| Online Access: | https://doi.org/10.18502/ijrm.v17i8.4821 |
| _version_ | 1824041629255729152 |
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| author | Mohammad Mehdi Heidari Amirhossein Danafar Fahime Moezzi Mehri Khatami Ali Reza Talebi |
| author_facet | Mohammad Mehdi Heidari Amirhossein Danafar Fahime Moezzi Mehri Khatami Ali Reza Talebi |
| author_sort | Mohammad Mehdi Heidari |
| collection | DOAJ |
| description | Background
Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage.
Objective
Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study was designed to study TNP2 gene nucleotide variations in Iranian patients with varicocele.
Materials and Methods
PCR-SSCP and DNA sequencing were used to search for mutations in exons 1 & 2 of the TNP2 gene in 156 infertile patients with varicocele and 150 fertile men.
Results
The results of sequencing showed three variants at positions c.301C░>░T (p.R101C), c.391C░>░T (p.R131░W), and g.IVS1-26G░>░C (rs8043625) of TNP2 gene. It was found that varicocele risk in men who have the CC genotype of g.IVS1-26G░>░C SNP is higher than those who don't have these genotypes (according to Co-dominant model, Dominant model, Recessive model, and Over-dominant model). The haplotype-based analysis showed that (C/C/T) and (C/T/T) haplotypes were a risk factor of in patients with varicocele compared to controls (OR░=░3.278, p░=░0.000 and OR░=░9.304, p░=░0.038, respectively).
Conclusion
Because of the significant difference in the genotype and allele frequencies of g.IVS1-26G░>░C SNP in the intronic region of TNP2 in patients with varicocele compared with controls and also because of the high conservation of this SNP position during evolution, this SNP may be involved in some important processes associated with the expression of this gene like mRNA splicing, but the exact mechanism is not clear. |
| first_indexed | 2024-12-22T23:29:22Z |
| format | Article |
| id | doaj.art-f6d92590e0f44df6b86c6b953ebb0bf7 |
| institution | Directory Open Access Journal |
| issn | 2476-3772 |
| language | English |
| last_indexed | 2024-12-22T23:29:22Z |
| publishDate | 2019-08-01 |
| publisher | Shahid Sadoughi University of Medical Sciences |
| record_format | Article |
| series | International Journal of Reproductive BioMedicine |
| spelling | doaj.art-f6d92590e0f44df6b86c6b953ebb0bf72022-12-21T18:08:47ZengShahid Sadoughi University of Medical SciencesInternational Journal of Reproductive BioMedicine2476-37722019-08-011755756610.18502/ijrm.v17i8.4821The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control studyMohammad Mehdi Heidari0Amirhossein Danafar1Fahime Moezzi2Mehri Khatami3Ali Reza Talebi4 Research and Clinical Center for Infertility and Department of Anatomy, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Research and Clinical Center for Infertility and Department of Anatomy, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Research and Clinical Center for Infertility and Department of Anatomy, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Research and Clinical Center for Infertility and Department of Anatomy, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Research and Clinical Center for Infertility and Department of Anatomy, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Background Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage. Objective Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study was designed to study TNP2 gene nucleotide variations in Iranian patients with varicocele. Materials and Methods PCR-SSCP and DNA sequencing were used to search for mutations in exons 1 & 2 of the TNP2 gene in 156 infertile patients with varicocele and 150 fertile men. Results The results of sequencing showed three variants at positions c.301C░>░T (p.R101C), c.391C░>░T (p.R131░W), and g.IVS1-26G░>░C (rs8043625) of TNP2 gene. It was found that varicocele risk in men who have the CC genotype of g.IVS1-26G░>░C SNP is higher than those who don't have these genotypes (according to Co-dominant model, Dominant model, Recessive model, and Over-dominant model). The haplotype-based analysis showed that (C/C/T) and (C/T/T) haplotypes were a risk factor of in patients with varicocele compared to controls (OR░=░3.278, p░=░0.000 and OR░=░9.304, p░=░0.038, respectively). Conclusion Because of the significant difference in the genotype and allele frequencies of g.IVS1-26G░>░C SNP in the intronic region of TNP2 in patients with varicocele compared with controls and also because of the high conservation of this SNP position during evolution, this SNP may be involved in some important processes associated with the expression of this gene like mRNA splicing, but the exact mechanism is not clear.https://doi.org/10.18502/ijrm.v17i8.4821varicocelegenetic polymorphisminfertilitynuclear transition protein 2 |
| spellingShingle | Mohammad Mehdi Heidari Amirhossein Danafar Fahime Moezzi Mehri Khatami Ali Reza Talebi The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study International Journal of Reproductive BioMedicine varicocele genetic polymorphism infertility nuclear transition protein 2 |
| title | The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study |
| title_full | The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study |
| title_fullStr | The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study |
| title_full_unstemmed | The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study |
| title_short | The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study |
| title_sort | association between tnp2 gene polymorphisms and iranian infertile men with varicocele a case control study |
| topic | varicocele genetic polymorphism infertility nuclear transition protein 2 |
| url | https://doi.org/10.18502/ijrm.v17i8.4821 |
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