DNA repair genes XPD and XRCC1 polymorphisms and risk of end-stage renal disease in Egyptian population

Radwan, Wafaa M; Elbarbary, Hany S.; Al-sheikh, Nevein M.

doi:10.3109/0886022x.2014.967646

Cited by 11 publications

(11 citation statements)

References 47 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Of the thirteen studies included, kidney dysfunction was characterized mainly by an estimated glomerular filtration rate (eGFR) equal to or less than 60 ml/min/1.73m 2 [ 18 , 23 , 25 , 27 , 28 ]. The remaining studies used other surrogate measures to determine kidney dysfunction, which included ESRD (undergoing haemodialysis) [ 19 , 21 , 22 , 24 , 26 ], elevated serum creatinine levels [ 20 ] and a combination of serum creatinine levels greater or equal to 170 μmol/l and dipstick proteinuria greater or equal to 2 [ 30 ] or serum creatinine above 1.4 mg/dl (men) and 1.2 mg/dl (women) and urinary albumin to creatinine ratio (ACR) above 30 mg/g [ 29 ]. The CKD patients included in these studies were of different aetiologies, reflective of the diversity in nephropathy present in Africa.…”

Section: Resultsmentioning

confidence: 99%

“…According to the studies included in this review, some SNP’s investigated in the MYH9 [ 28 ], AT1R [ 19 ], and MTHFR [ 20 ] genes failed to predict prevalent CKD, ESRD or related traits (serum creatinine, eGFR and ACR), while variants in the APOL1 [ 27 , 29 , 30 ], apoE [ 21 ], eNOS [ 18 , 20 ], XPD [ 22 ], XRCC1 [ 22 ], renalase [ 23 , 26 ], ADIPOQ [ 31 ] and CCR2 [ 24 ] genes were associated with either prevalent CKD or progression of CKD, ESRD, or other surrogate measures of renal function.…”

Section: Resultsmentioning

confidence: 99%

“…Similarly, Elshamaa et al [ 18 ] found the a-allele in the eNOS (intron 4) gene to predict ESRD in Egyptian children ( p < 0.05) [ 18 ]. Radwan et al [ 22 ] investigated three polymorphisms in the DNA repair genes ( XPD and XRCC1 ) and found that patients with XRCC1–399 Arg/Gln genotype had a significantly higher risk of developing ESRD (OR: 2.48; 95% CI: 1.36–4.52). Furthermore, the haplotypes containing XRCC1–399 Arg/Gln and XPD-312 Asp/Asn as well as XRCC1–399 Arg/Gln and XPD-751 Lys/Gln were significantly associated with the development of ESRD (OR: 8.35, 95%CI: 1.94–35.85, p = 0.004 and OR: 9.22, 95%CI: 2.14–39.71, p = 0.003, respectively).…”

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

An African perspective on the genetic risk of chronic kidney disease: a systematic review

et al. 2018

View full text Add to dashboard Cite

BackgroundIndividuals of African ethnicity are disproportionately burdened with chronic kidney disease (CKD). However, despite the genetic link, genetic association studies of CKD in African populations are lacking.MethodsWe conducted a systematic review to critically evaluate the existing studies on CKD genetic risk inferred by polymorphism(s) amongst African populations in Africa. The study followed the HuGE handbook and PRISMA protocol. We included studies reporting on the association of polymorphism(s) with prevalent CKD, end-stage renaldisease (ESRD) or CKD-associated traits. Given the very few studies investigating the effects of the same single nucleotide polymorphisms (SNPs) on CKD risk, a narrative synthesis of the evidence was conducted.ResultsA total of 30 polymorphisms in 11 genes were investigated for their association with CKD, ESRD or related traits, all using the candidate-gene approach. Of all the included genes, MYH9, AT1R and MTHFR genes failed to predict CKD or related traits, while variants in the APOL1, apoE, eNOS, XPD, XRCC1, renalase, ADIPOQ, and CCR2 genes were associated with CKD or other related traits. Two SNPs (rs73885319, rs60910145) and haplotypes (G-A-G; G1; G2) of the apolipoprotein L1 (APOL1) gene were studied in more than one population group, with similar association with prevalent CKD observed. The remaining polymorphisms were investigated in single studies.ConclusionAccording to this systematic review, there is currently insufficient evidence of the specific polymorphisms that poses African populations at an increased risk of CKD. Large-scale genetic studies are warranted to better understand susceptibility polymorphisms, specific to African populations.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0702-x) contains supplementary material, which is available to authorized users.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

An African perspective on the genetic risk of chronic kidney disease: a systematic review

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Since XPD is crucial in the biofunctions of multiple cells and XPD mutations have been studied in the pathogenesis of numerous genetic disorders, XPD genetic variants may hence be considered as a main genetic susceptibility factor [30]. Some variants in XPD gene exons have been described; Lys751Gln variant is one of the most common [31]. The XPD Lys751Gln variant is an adenine (A) to cytosine (C) transition, which may lead to modify from lysine to glutamine in exon 23 of the XPD gene.…”

Section: Discussionmentioning

confidence: 99%

Possible association between DNA repair gene variants and cannabis dependence in a Turkish cohort: a pilot study

Pehlıvan

Yazıcı

Kurnaz

et al. 2018

Psychiatry and Clinical Psychopharmacology

View full text Add to dashboard Cite

OBJECTIVE: Substance use disorder (SUD) has important effects on health and well-being. It is well known that genetic factors play a role in SUD. The purpose of this research was to investigate whether functional variants of DNA repair genes might be a risk factor for cannabis and/or synthetic cannabis dependence in a Turkish cohort. METHODS: In total, 131 patients with cannabis and/or synthetic dependence and 70 healthy controls were included in this case-control study. XRCC1 codon 399 (rs25487) and XRCC4 G1394 T (rs6869366), and XPD (rs13181) variants were determined by the polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). RESULTS: The XRCC1 rs25487 GG genotype and G allele were significantly lower in patients compared to controls (p = 0.005; p = 0.002, respectively). XRCC4 rs6869366 TT genotype and T allele were more common in patients compared to controls (p = 0.001, p = 0.001, respectively). It was found that patients with XPD rs13181 Lys/Gln had a significantly higher risk of cannabis dependence than control did (p = 0.00). The subjects carried XPD rs13181 Gln/Gln genotype had a 2.2-fold increased risk for cannabis dependence (p = 0.010). CONCLUSIONS: We demonstrated for the first time that DNA repair gene variants may alter individual vulnerability for SUD. This observation could be of further interest to researchers, as it could suggest new candidate genes, presumably crucial for the etiopathogenesis of the cannabis and/or synthetic cannabis dependence. ARTICLE HISTORY

show abstract

“…In fact, ERCC1 and ERCC4 play important roles in the development of nephropathies, as demonstrated in mammalian models 61 . The variant rs25487 of the XRCC1 gene confers increased risk for the development of ESRD 62,63 .…”

Section: Scientific Reports |mentioning

confidence: 99%

Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population

Corredor

Filho

Rodríguez-Ribera

et al. 2020

Sci Rep

View full text Add to dashboard Cite

Chronic kidney disease (CKD) patients have many affected physiological pathways. Variations in the genes regulating these pathways might affect the incidence and predisposition to this disease. A total of 722 Spanish adults, including 548 patients and 174 controls, were genotyped to better understand the effects of genetic risk loci on the susceptibility to CKD. We analyzed 38 single nucleotide polymorphisms (SNPs) in candidate genes associated with the inflammatory response (interleukins IL-1A, IL-4, IL-6, IL-10, TNF-α, ICAM-1), fibrogenesis (TGFB1), homocysteine synthesis (MTHFR), DNA repair (OGG1, MUTYH, XRCC1, ERCC2, ERCC4), renin-angiotensin-aldosterone system (CYP11B2, AGT), phase-II metabolism (GSTP1, GSTO1, GSTO2), antioxidant capacity (SOD1, SOD2, CAT, GPX1, GPX3, GPX4), and some other genes previously reported to be associated with CKD (GLO1, SLC7A9, SHROOM3, UMOD, VEGFA, MGP, KL). The results showed associations of GPX1, GSTO1, GSTO2, UMOD, and MGP with CKD. Additionally, associations with CKD related pathologies, such as hypertension (GPX4, CYP11B2, ERCC4), cardiovascular disease, diabetes and cancer predisposition (ERCC2) were also observed. Different genes showed association with biochemical parameters characteristic for CKD, such as creatinine (GPX1, GSTO1, GSTO2, KL, MGP), glomerular filtration rate (GPX1, GSTO1, KL, ICAM-1, MGP), hemoglobin (ERCC2, SHROOM3), resistance index erythropoietin (SOD2, VEGFA, MTHFR, KL), albumin (SOD1, GSTO2, ERCC2, SOD2), phosphorus (IL-4, ERCC4 SOD1, GPX4, GPX1), parathyroid hormone (IL-1A, IL-6, SHROOM3, UMOD, ICAM-1), C-reactive protein (SOD2, TGFB1,GSTP1, XRCC1), and ferritin (SOD2, GSTP1, SLC7A9, GPX4). To our knowledge, this is the second comprehensive study carried out in Spanish patients linking genetic polymorphisms and CKD.Chronic kidney disease (CKD) is becoming a major public health problem worldwide. CKD is defined as a progressive loss of renal function, measured by a decline in glomerular filtration rate (GFR < 60 mL/min/1.73 m 2 ) 1 , which is typically associated with irreversible pathological changes within the kidney. This pathology has a complicated interrelationship with other diseases 2,3 . Diabetes (DM) and hypertension (HT) are the primary risk factors for CKD 4 , and CKD is also associated with cardiovascular morbidity and mortality 5,6 , even in early stages and in young patients 7 .CKD patients are also characterized by a high genomic instability [8][9][10][11] . This instability could be translated to high levels of genetic damage measured by the incidence of chromosomal damage (micronuclei) when their cells are challenged with ionizing radiation 12 and could be either the cause or the consequence of renal pathologies. In addition, it has been observed that CKD patients repair less efficiently DNA damage 13 .CKD patients present increased levels of C-reactive protein (CRP), which is indicative of an inflammatory status 12,14,15 . Oxidative stress is also a characteristic usually shown by CKD patients [16][17][18][19] . Variants in genes reg...

show abstract

DNA repair genes XPD and XRCC1 polymorphisms and risk of end-stage renal disease in Egyptian population

Cited by 11 publications

References 47 publications

An African perspective on the genetic risk of chronic kidney disease: a systematic review

An African perspective on the genetic risk of chronic kidney disease: a systematic review

Possible association between DNA repair gene variants and cannabis dependence in a Turkish cohort: a pilot study

Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population

Contact Info

Product

Resources

About