Polymorphism of the DNA repair gene XDP increases the risk of systemic lupus erythematosus but not multiple sclerosis in the Iranian population
| Autor: | Mohsen Saravani, Rostam Maruei-Milan, Mahnaz Sandoughi, Mehrnaz Mehrabani, Zohreh Heidary, Mahdieh Jafari Shahroudi, Mohammad Hadi Nematollahi |
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| Rok vydání: | 2021 |
| Předmět: |
Xeroderma pigmentosum
Multiple Sclerosis DNA Repair Genotype Iran Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine Polymorphism (computer science) Risk Factors medicine Humans Lupus Erythematosus Systemic Genetic Predisposition to Disease 030212 general & internal medicine Risk factor Allele frequency Xeroderma Pigmentosum Group D Protein business.industry Multiple sclerosis General Medicine Odds ratio medicine.disease Neurology Case-Control Studies Immunology Neurology (clinical) business 030217 neurology & neurosurgery Nucleotide excision repair |
| Zdroj: | Multiple sclerosis and related disorders. 52 |
| ISSN: | 2211-0356 |
| Popis: | Background Xeroderma pigmentosum group D ( XPD ) is an essential component of the nucleotide excision repair (NER) pathway, which can play a major role in DNA repair processes. A deficiency in this pathway was suggested as a causative factor of autoimmune diseases. Therefore, the current study aimed to investigate the relationship between XPD Lys751Gln polymorphism (rs13181) as one of the most common XDP polymorphisms and the risk of two important auto-immune diseases,namely systemic lupus erythematosus (SLE) and multiple sclerosis (MS) in the Iranian population. Methods 165 SLE patients and 165 age- and gender-matched healthy controls, and 150 MS patients and 150 age- and gender-matched healthy controls were genotyped for XPD rs13181 A/C polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results The results of the present study have indicated that both C allele frequency ( P = 0.012; odds ratio: 1.5; 95% confidence interval: 1.1–2.07) and CC genotype ( P = 0.007; odds ratio: 2.46; 95% confidence interval: 1.2–4.7) in SLE patient were significantly higher than those in control group. Furthermore, there were no significant differences between MS patients and normal subjects concerning the genotype and the allele frequencies. Conclusion Our findings suggested that XPD rs13181 A/C polymorphism may be a crucial risk factor for the development of SLE but not MS in Iranian patients. |
| Databáze: | OpenAIRE |
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