Abstract:
:XRCC1 plays a central role in mammalian DNA repair processes. Two polymorphisms of XRCC1, rs1799782 (Arg > Trp at codon 194) and rs25487 (Arg > Gln at codon 399), are common in the Han Chinese population. Our objective was to analyze the relationship between these two functional single-nucleotide polymorphisms (SNPs) and systemic lupus erythematosus (SLE) in the Taiwanese Han Chinese population. Genotyping was performed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) on 172 SLE patients and 160 normal controls. Our data indicate that the frequency of A/G at codon 399 differed between patients and controls (p = 0.01; odds ratio: 1.80; 95% confidence interval: 1.17-2.75), but the allelic frequency analysis did not reveal significant differences. For the SNP at codon 194, there were no differences in either allelic or genotype frequencies between SLE patients and normal subjects. Clinical association studies of SLE symptoms revealed the involvement of the A/G polymorphism at codon 399 in SLE pathogenesis. Our results indicate that a functional SNP at codon 399 of XRCC1 is associated with the development of SLE.
journal_name
Lupusjournal_title
Lupusauthors
Lin YJ,Wan L,Huang CM,Chen SY,Huang YC,Lai CH,Lin WY,Liu HP,Wu YS,Chen CM,Tsai YH,Tsai CH,Sheu JJ,Tsai FJdoi
10.1177/0961203309345777subject
Has Abstractpub_date
2009-12-01 00:00:00pages
1246-51issue
14eissn
0961-2033issn
1477-0962pii
0961203309345777journal_volume
18pub_type
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