title: Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population.
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.
authors.affiliation: Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan.
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Lin
authors.forename: L
authors.initials: L
authors.lastname: Wan
authors.forename: C-M
authors.initials: CM
authors.lastname: Huang
authors.forename: S-Y
authors.initials: SY
authors.lastname: Chen
authors.forename: Y-C
authors.initials: YC
authors.lastname: Huang
authors.forename: C-H
authors.initials: CH
authors.lastname: Lai
authors.forename: W-Y
authors.initials: WY
authors.lastname: Lin
authors.forename: H-P
authors.initials: HP
authors.lastname: Liu
authors.forename: Y-S
authors.initials: YS
authors.lastname: Wu
authors.forename: C-M
authors.initials: CM
authors.lastname: Chen
authors.forename: Y-H
authors.initials: YH
authors.lastname: Tsai
authors.forename: C-H
authors.initials: CH
authors.lastname: Tsai
authors.forename: J J-C
authors.initials: JJ
authors.lastname: Sheu
authors.forename: F-J
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data*; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013624:Taiwan / Q000453:epidemiology; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human