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Association of XRCC1 (rs1799782) and XPD (rs13181) gene polymorphisms with renal failure risk in a sample of Iraqi
Fahad D F Abo-Ghneim1, Dhafer A F Al-Koofee2, Hussain Jasem Mohammed3
1Department of Medical Lab., Faculty of Healthy and Medical Techniques, Al-Furat Al-Awsat Technical University, Najaf, Iraq.
Insights
Genetic variants in XRCC1 and ERCC2/XPD DNA repair genes are linked to increased chronic kidney disease (CKD) risk in Iraqi patients. These findings highlight the role of specific gene polymorphisms in CKD susceptibility.
Area of Science:
- Genetics
- Nephrology
- Molecular Biology
Background:
- Chronic kidney disease (CKD) is a severe condition with significant health implications.
- Kidney dysfunction impairs waste and fluid filtration, leading to life-threatening complications.
- Cardiovascular issues are a primary cause and complication of end-stage CKD.
Purpose of the Study:
- To investigate the association between genetic variants XRCC1 rs1799782 and ERCC2/XPD rs25487 and CKD susceptibility in Iraqi patients.
- To explore the relationship between these genetic polymorphisms and biochemical changes in CKD.
- To assess the role of DNA repair genes in the pathogenesis of CKD.
Main Methods:
- A case-control study was conducted with 219 CKD patients and 246 healthy controls.
- DNA samples were analyzed using the Polymerase Chain Reaction-based High-Resolution Melting (PCR-HRM) technique.
- Genotype frequencies of XRCC1 (rs1799782) and ERCC2/XPD (rs25487) single nucleotide polymorphisms (SNPs) were determined.
Main Results:
- Significant associations were found between XRCC1 (p=0.025) and ERCC2/XPD (p=0.0001) polymorphisms and CKD susceptibility in the Iraqi population.
- Multivariate analysis confirmed the link between rs1799782 G/A and rs13181T/G variants and CKD risk, independent of sex, age, and BMI.
- A moderate linkage disequilibrium (0.43) was observed between the two studied SNPs.
Conclusions:
- Polymorphisms in XRCC1 (rs1799782) and ERCC2/XPD (rs13181) are associated with an elevated risk of developing CKD.
- The AG haplotype model showed a particular link to increased CKD susceptibility among Iraqi patients.
- These findings underscore the importance of specific DNA repair gene polymorphisms in assessing CKD risk.
Background:
End-stage chronic kidney disease (CKD) can lead to life-threatening complications and is caused primarily by CKD and cardiovascular issues. CKD is characterized by the inability of the kidneys to filter waste and excess fluids from the blood. This study investigated the associations of the genetic variants XRCC1 rs1799782 (C194T) and ERCC2/XPD rs25487 (Q399R) with CKD susceptibility in Iraqi patients and related biochemical changes.
Methods:
The research was performed from 25/01/2023 to 30/06/2023, we analyzed the genetic associations of two SNPs of DNA repair genes (XRCC1 and ERCC2/XPD) in a case‒control study involving 219 CKD patients diagnosed by a nephrologist and 246 healthy controls. Data and blood samples were collected, and the genotype distribution frequency was determined via the PCR-based high-resolution melting (PCR-HRM) technique.
Results:
This study included 465 participants, with 219 CKD patients and 246 healthy controls. XRCC1 and ERCC2/XPD gene polymorphisms were significantly associated with CKD susceptibility in Iraqi patients (p = 0.025 and p = 0.0001, respectively). Multivariate linear regression confirmed the associations of rs1799782 G/A and rs13181T/G with CKD, adjusting for sex, age, and BMI. Moderate and statistically significant linkage disequilibrium (0.43) between the two SNPs was observed, indicating nonrandom associations.
Conclusion:
XRCC1 (rs1799782) and ERCC2/XPD (rs13181) polymorphisms are associated with an increased risk of CKD. The AG haplotype model is particularly related to increased CKD susceptibility in Iraqi patients, suggesting the importance of these DNA repair gene polymorphisms in CKD risk assessment.
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