XRCC5 VNTR, XRCC6 -61C&gt;G, and XRCC7 6721G&gt;T Gene Polymorphisms Associated with Male Infertility Risk: Evidences from Case-Control and In Silico Studies

Jahantigh, Danial; Colagar, Abasalt Hosseinzadeh

doi:10.1155/2017/4795076

Cited by 25 publications

(20 citation statements)

References 51 publications

(66 reference statements)

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“…From among BC risk factors, the role of genetics in BC development has been widely investigated, and numerous genetic polymorphisms suggested to influence its progression have been screened 22,23. Different genotypes of the VNTR in the XRCC5 gene have been identified by several early studies 24,25. In the present study, ten different genotypes and four alleles of the XRCC5 VNTR polymorphism in its promoter region were assessed for any relation with BC risk in Jordanian females.…”

Section: Discussionmentioning

confidence: 99%

Genetic association of XRCC5 gene polymorphisms with breast cancer among Jordanian women

AL-Eitan¹,

Rababa'h²,

Alghamdi³

et al. 2019

OTT

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PurposeBreast cancer (BC) is a complex disease that is governed by several different environmental and inherited factors. There are many genes have been linked with BC development by screening specific genetic variants within these genes. In this study, we aim to investigate the correlation between Variable Number Tandem Repeat (VNTR) in XRCC5 gene and BC.Materials and methodsPolymerase Chain Reaction (PCR) and Gel electrophoresis were used to genotype the XRCC5 gene polymorphism in 200 cases with breast cancer and 200 healthy individuals. All participants were Jordanian women from Arab descents. Clinical and pathological characteristics for BC patients were summarized and categorized according to their medical records.ResultsIn this study, we found a strong correlation between the VNTR polymorphism in the XRCC5 gene and BC risk (P-value<0.0001). Remarkably, three different genotypes (2R\2R, 3R\2R and 3R\3R) showed significant association with BC (P-value<0.0001). This study also reported a significant difference in the distribution of allele frequencies between BC patients and healthy individuals (3R; P-value<0.0001 and 2R; P-value<0.001). However, we propose that VNTR of XRCC5 gene did not interfere with BC prognosis.ConclusionWe speculate that the VNTR of XRCC5 gene may influence BC development. More investigations are needed in this regard to clarify the underlying role of the XRCC5 genetic variant in tumorgenesis including BC development.

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Section: Discussionmentioning

confidence: 99%

Genetic association of XRCC5 gene polymorphisms with breast cancer among Jordanian women

AL-Eitan¹,

Rababa'h²,

Alghamdi³

et al. 2019

OTT

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“…One can therefore conclude that XRCC2 is an essential for the progression of meiosis, and that a mutation in this gene could cause infertility in humans. Polymorphisms in XRCC2 homologs 1, 5, 6 and 7 have been linked to male infertility [156–158].…”

Section: Causative Gene Mutations In Noamentioning

confidence: 99%

Genetic defects in human azoospermia

Ghieh

Mitchell

Mandon‐Pepin

et al. 2019

Basic Clin. Androl.

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As with many other diseases, genetic testing in human azoospermia was initially restricted to karyotype analyses (leading to diagnostic chromosome rearrangement tests for Klinefelter and other syndromes). With the advent of molecular biology in the 1980s, genetic screening was broadened to analyses of Y chromosome microdeletions and the gene coding for the cystic fibrosis transmembrane conductance regulator ( CFTR ). Decades later, the emergence of whole-genome techniques has led to the identification of other genetic defects associated with human azoospermia. Although TEX11 and ADGRG2 defects are frequently described in men with azoospermia, most of the causal gene defects found to date are private (i.e. identified in a small number of consanguineous families). Here, we provide an up-to-date overview of all the types of genetic defects known to be linked to human azoospermia and try to give clinical practice guidelines according to azoospermia phenotype. Along with homozygous mutations, polymorphisms and epigenetic defects are also briefly discussed. However, as these variations predispose to azoospermia, a specific review will be needed to compile data on all the particular genetic variations reported in the literature.

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“…Furthermore, Bioinformatic servers were recruited to assess the conservation of DNA sequences containing IL-23R rs11209026 and rs10889677 polymorphism sites and further illustrated [23,27].…”

Section: In Silico Analysismentioning

confidence: 99%

Interleukin-23 receptor (IL-23R) gene polymorphisms and haplotypes associated with the risk of preeclampsia: evidence from cross-sectional and in silico studies

Jahantigh

Forghani

Zidanloo

2019

J Assist Reprod Genet

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Purpose Pre-eclampsia is a relatively common pregnancy disorder. Serum concentrations of certain pro-inflammatory molecules and cytokines like interleukin-23 may affect the pathogenesis of pre-eclampsia. The interleukin-23 receptor (IL-23R) gene plays an important role in the progression of inflammatory and autoimmune diseases and IL-23 polymorphisms might influence the susceptibility of pre-eclampsia. The aim of the recent study was to establish the association between IL-23R gene polymorphisms and the susceptibility for developing of pre-eclampsia. Methods One hundred and fifty-eight pregnant patients with pre-eclampsia and 153 controls were genotyped using RFLP-PCR and AS-PCR. Also, an in silico analysis was performed to predict possible effects of these variations on IL-23R mRNA and protein structures. Results The frequency of the AG genotype of rs11209026 is related to a higher risk of pre-eclampsia. The mutant C and A allele in rs10889677 and rs11209026 SNPs, respectively, are correlated with the risk of pre-eclampsia and they are more frequent in severe late onset PE. We found higher frequency of the haplotype CG in patients with pre-eclampsia in comparison to healthy controls, as well as, the CG haplotype frequency significantly increased the risk of PE in severe, early onset, and late onset subgroups. The results of computational analysis predicted rs11209026 and rs10889677 SNPs as functional variations, which can influence IL-23R mRNA and protein. Conclusions The results of present study show positive association between polymorphisms in the IL-23R gene and pre-eclampsia. Therefore, the presence of IL-23R rs11209026, rs10889677 polymorphism might be markers for the genetic susceptibility to pre-eclampsia.

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XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T Gene Polymorphisms Associated with Male Infertility Risk: Evidences from Case-Control and In Silico Studies

Cited by 25 publications

References 51 publications

<p>Genetic association of <em>XRCC5</em> gene polymorphisms with breast cancer among Jordanian women</p>

<p>Genetic association of <em>XRCC5</em> gene polymorphisms with breast cancer among Jordanian women</p>

Genetic defects in human azoospermia

Interleukin-23 receptor (IL-23R) gene polymorphisms and haplotypes associated with the risk of preeclampsia: evidence from cross-sectional and in silico studies

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