Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study
Abstract 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 invest...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-07-01
|
| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00760-1 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849764345110593536 |
|---|---|
| author | Mohannad Fawzy Mustafa Engy Mohammad El Khateeb Tarek Gamal Eldein Megahed Rania Soliman Hamza Hend Hamed Tamim |
| author_facet | Mohannad Fawzy Mustafa Engy Mohammad El Khateeb Tarek Gamal Eldein Megahed Rania Soliman Hamza Hend Hamed Tamim |
| author_sort | Mohannad Fawzy Mustafa |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-b629ec2555eb409bb1d8b0b9ffedc36c |
| institution | DOAJ |
| issn | 2090-2441 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj-art-b629ec2555eb409bb1d8b0b9ffedc36c2025-08-20T03:05:09ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-07-012611910.1186/s43042-025-00760-1Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control studyMohannad Fawzy Mustafa0Engy Mohammad El Khateeb1Tarek Gamal Eldein Megahed2Rania Soliman Hamza3Hend Hamed Tamim4Medicine and General Surgery, Clinical Pathology Department, Armed Forces College of MedicineClinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityClinical and Chemical Pathology, Military AcademyClinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityClinical and Chemical Pathology, Faculty of Medicine, Cairo UniversityAbstract 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.https://doi.org/10.1186/s43042-025-00760-1SLERAXRCC7XPDARMSRFLP |
| spellingShingle | Mohannad Fawzy Mustafa Engy Mohammad El Khateeb Tarek Gamal Eldein Megahed Rania Soliman Hamza Hend Hamed Tamim Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study Egyptian Journal of Medical Human Genetics SLE RA XRCC7 XPD ARMS RFLP |
| title | Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study |
| title_full | Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study |
| title_fullStr | Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study |
| title_full_unstemmed | Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study |
| title_short | Role of polymorphic variants of DNA repair genes XRCC7 and XPD toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis: a case control study |
| title_sort | role of polymorphic variants of dna repair genes xrcc7 and xpd toward susceptibility of systemic lupus erythematosus and rheumatoid arthritis a case control study |
| topic | SLE RA XRCC7 XPD ARMS RFLP |
| url | https://doi.org/10.1186/s43042-025-00760-1 |
| work_keys_str_mv | AT mohannadfawzymustafa roleofpolymorphicvariantsofdnarepairgenesxrcc7andxpdtowardsusceptibilityofsystemiclupuserythematosusandrheumatoidarthritisacasecontrolstudy AT engymohammadelkhateeb roleofpolymorphicvariantsofdnarepairgenesxrcc7andxpdtowardsusceptibilityofsystemiclupuserythematosusandrheumatoidarthritisacasecontrolstudy AT tarekgamaleldeinmegahed roleofpolymorphicvariantsofdnarepairgenesxrcc7andxpdtowardsusceptibilityofsystemiclupuserythematosusandrheumatoidarthritisacasecontrolstudy AT raniasolimanhamza roleofpolymorphicvariantsofdnarepairgenesxrcc7andxpdtowardsusceptibilityofsystemiclupuserythematosusandrheumatoidarthritisacasecontrolstudy AT hendhamedtamim roleofpolymorphicvariantsofdnarepairgenesxrcc7andxpdtowardsusceptibilityofsystemiclupuserythematosusandrheumatoidarthritisacasecontrolstudy |