Polymorphisms of DNA Repair Genes XPD (Lys751Gln) and XRCC1 (Arg399Gln), and The Risk of Age-Related Cataract: A Meta-Analysis

Liu, Xiaocui; Liu, Xiaofei; Hu, Zhide; Li, Zhaohui

doi:10.3109/02713683.2014.957325

Cited by 10 publications

(7 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our previous study, compared with controls, ARC patients have more DNA damage in peripheral lymphocytes and in LECs. These damage of two locales were positively correlated 5 . In this study, the degree of DNA damage in peripheral lymphocytes and LECs assessed by Comet assay was significantly higher in ARNCs regardless of the genotypes.…”

Section: Discussionmentioning

confidence: 87%

See 1 more Smart Citation

MicroRNA binding mediated Functional sequence variant in 3′-UTR of DNA repair Gene XPC in Age-related Cataract

Zou

Kang

Yang

et al. 2018

Sci Rep

View full text Add to dashboard Cite

DNA oxidative damage repair is strongly involved in the pathogenesis of age-related cataract (ARC). The sequence variants of in coding region of DNA repair genes have been shown to be associated with ARC. It is known that single nucleotide polymorphisms (SNPs) in the 3′-terminal untranslated region (3′-UTR) can alter the gene expression by binding with microRNAs (miRNAs). We hypothesize that SNP(s) in miRNA binding site of certain DNA oxidative damage repair genes might associate with ARC risk. We examined 10 miRNA binding SNPs in 3′-UTR of 7 oxidative damage genes and revealed the XPC- rs2229090 C allele was associated with nuclear type of ARC (ARNC) risk in Chinese population. The individuals with the variant G allele (CG and GG) of XPC- rs2229090 had higher XPC mRNA expression compared to individuals carrying CC genotype. The in vitro assay showed that luciferase reporter gene expression can be down regulated by hsa-miR-589-5p in cells transfected with rs2229090 C allele compared to G allele. These results suggested that the C allele of XPC-2229090 increase the risk with ARNC. The mechanism underlying might be due to the stronger interation of the C allele with hsa-miR-589-5p, resulting in lower XPC expression and DNA repair capability than the individuals carring G allele in lens.

show abstract

Section: Discussionmentioning

confidence: 87%

“…DSBR may be rectified by either homologous or no homologous recombination pathways 10 . There is strong association between oxidative damage repair gene disrupted by gene variation in coding region and ARC 5 , 11 , 12 . However, a few studies focus on the 3′-untranslated region (3′-UTR) variation of gene.…”

Section: Introductionmentioning

confidence: 99%

MicroRNA binding mediated Functional sequence variant in 3′-UTR of DNA repair Gene XPC in Age-related Cataract

Zou

Kang

Yang

et al. 2018

Sci Rep

View full text Add to dashboard Cite

show abstract

“…Oxidative DNA lesions and inefficient of DNA repair capacity have been shown to be responsible for ARC pathogenesis [Dunlop et al., ; Liu et al., ]. The DNA damage repair process is a crucial mechanism to maintain the homeostasis in mammalian cells.…”

Section: Introductionmentioning

confidence: 99%

Functional SNP in 3′-UTR MicroRNA-Binding Site ofZNF350Confers Risk for Age-Related Cataract

Ren

Zhang

et al. 2016

Human Mutation

View full text Add to dashboard Cite

Many studies have suggested that individual susceptibility to age-related cataract (ARC) may be associated with DNA sequence polymorphisms affecting gene regulation. As DNA repair is implicated in ARC pathogenesis and single-nucleotide polymorphisms (SNPs) in the 3'-terminal untranslated region (3'-UTR) targeted by microRNAs (miRNAs) can alter the gene function, we hypothesize that the miRNA-binding SNPs (miRSNPs) in DNA double-strand break repair (DSBR) and nucleotide excision repair (NER) pathways might associate with ARC risk. We genotyped nine miRSNPs of eight genes in DSBR and NER pathways in Chinese population and found that ZNF350- rs2278414:G>A was significantly associated with ARC risk. Even though the Comet assay of cellular DNA damage indicated that all the subtypes of ARC patients had more DNA breaks in peripheral lymphocytes than the controls independent of rs2278414 genotypes, individuals carrying the variant A allele (AA and AG) had lower ZNF350 mRNA levels compared with individuals with GG genotype. Moreover, the in vitro experiment indicated that miR-21-3p and miR-150-5p specifically downregulated luciferase reporter expression in the cell lines transfected with rs2278414 A allele compared with rs2278414 G. These results suggested that the association of SNP rs2278414 with ARC might involve an altered miRNA regulation of ZNF350.

show abstract

“…There are only a few studies that were focused on neurodegenerative or ocular disease. The same data found the relationship between the presence of the 399Arg/Gln XRCC1 gene polymorphism with ocular disorders including age-related cataracts [46] as well as neurodegenerative diseases such as Parkinson's [47] and Alzheimer's diseases [24].…”

Section: Discussionmentioning

confidence: 63%

The role of base excision repair in the development of primary open angle glaucoma in the Polish population

Cuchra

Markiewicz

Mucha

et al. 2015

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

View full text Add to dashboard Cite

Polymorphisms of DNA Repair Genes XPD (Lys751Gln) and XRCC1 (Arg399Gln), and The Risk of Age-Related Cataract: A Meta-Analysis

Abstract: This meta-analysis indicates that XRCC1 Arg399Gln polymorphisms, but not XPD Lys751Gln polymorphisms, are associated with risk of age-related cataract.

Cited by 10 publications

References 24 publications

MicroRNA binding mediated Functional sequence variant in 3′-UTR of DNA repair Gene XPC in Age-related Cataract

MicroRNA binding mediated Functional sequence variant in 3′-UTR of DNA repair Gene XPC in Age-related Cataract

Functional SNP in 3′-UTR MicroRNA-Binding Site ofZNF350Confers Risk for Age-Related Cataract

The role of base excision repair in the development of primary open angle glaucoma in the Polish population

Contact Info

Product

Resources

About