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Background <p>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 <i>XRCC1</i> rs1799782 (C194T) and <i>ERCC2/XPD</i> rs25487 (Q399R) with CKD susceptibility in Iraqi patients and related biochemical changes.</p> Methods <p>The research was performed from 25/01/2023 to 30/06/2023, we analyzed the genetic associations of two SNPs of DNA repair genes (<i>XRCC1</i> and <i>ERCC2/XPD</i>) 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.</p> Results <p>This study included 465 participants, with 219 CKD patients and 246 healthy controls. <i>XRCC1</i> and <i>ERCC2/XPD</i> 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.</p> Conclusion <p><i>XRCC1</i> (rs1799782) and <i>ERCC2/XPD</i> (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.</p>

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Association of XRCC1 (rs1799782) and XPD (rs13181) gene polymorphisms with renal failure risk in a sample of Iraqi population: a case–control study

  • 期刊论文

  • 发表日期：

    2025年3月8日

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  • Fahad D. F. Abo-Ghneim,
  • Dhafer A. F. Al-Koofee,
  • Hussain Jasem Mohammed

摘要

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.