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Background <p>DNA damage is believed to be involved in the development of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). The X-ray repair cross-complementation group (XRCC7) and Xeroderma pigmentosum group D (XPD) proteins play critical roles in DNA repair. This study investigates the association of XRCC7 and XPD polymorphisms with SLE and RA, and their relationships with clinical and laboratory features. The study involved 150 Egyptian adults divided into three groups: 50 SLE patients, 50 RA patients, and 50 healthy controls. XRCC7 (rs7830743) (T &gt; C) polymorphism was analyzed using the amplification refractory mutation system, while XPD (rs13181) (A &gt; C) polymorphism was genotyped using restriction fragment length polymorphism.</p> Results <p>Our results showed that the polymorphic CC genotype and C allele of XRCC7 were significantly more frequent in the control group compared to SLE (<i>p</i> = 0.022, <i>p</i> = 0.007) and RA (<i>p</i> = 0.001, <i>p</i> = 0.000), with no significant difference between SLE and RA groups. Similarly, the polymorphic CC genotype and C allele of XPD were more frequent in controls compared to RA (<i>p</i> = 0.023, <i>p</i> = 0.033), but no difference was observed between controls and SLE or between SLE and RA groups. XRCC7 genotypes were significantly associated with serositis and nephritis in SLE and with elevated ALT and CRP in RA.</p> Conclusion <p>The findings suggest that XRCC7 and XPD polymorphic variants may play protective roles. DNA repair gene polymorphisms appear to influence disease susceptibility and severity, particularly renal disease and serositis in SLE, potentially linked to XRCC7 variants.</p>

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Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月30日

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  • Mohannad Fawzy Mustafa,
  • Engy Mohammad El Khateeb,
  • Tarek Gamal Eldein Megahed,
  • Rania Soliman Hamza,
  • Hend Hamed Tamim

摘要

Background

DNA damage is believed to be involved in the development of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). The X-ray repair cross-complementation group (XRCC7) and Xeroderma pigmentosum group D (XPD) proteins play critical roles in DNA repair. This study investigates the association of XRCC7 and XPD polymorphisms with SLE and RA, and their relationships with clinical and laboratory features. The study involved 150 Egyptian adults divided into three groups: 50 SLE patients, 50 RA patients, and 50 healthy controls. XRCC7 (rs7830743) (T > C) polymorphism was analyzed using the amplification refractory mutation system, while XPD (rs13181) (A > C) polymorphism was genotyped using restriction fragment length polymorphism.

Results

Our results showed that the polymorphic CC genotype and C allele of XRCC7 were significantly more frequent in the control group compared to SLE (p = 0.022, p = 0.007) and RA (p = 0.001, p = 0.000), with no significant difference between SLE and RA groups. Similarly, the polymorphic CC genotype and C allele of XPD were more frequent in controls compared to RA (p = 0.023, p = 0.033), but no difference was observed between controls and SLE or between SLE and RA groups. XRCC7 genotypes were significantly associated with serositis and nephritis in SLE and with elevated ALT and CRP in RA.

Conclusion

The findings suggest that XRCC7 and XPD polymorphic variants may play protective roles. DNA repair gene polymorphisms appear to influence disease susceptibility and severity, particularly renal disease and serositis in SLE, potentially linked to XRCC7 variants.