The NBS1 genetic polymorphisms and the risk of the systemic lupus erythematosus in Taiwanese patients.

Abstract

INTRODUCTION:

Systemic lupus erythematosus (SLE), a multisystemic autoimmune disease, is characterized by the production of a range of autoantibodies against nuclear constituents and other self-antigens. The studies in DNA repair deficiencies in SLE patients have been recently investigated.

AIMS:

Few studies have been conducted on DNA repair gene polymorphisms and their role in autoimmune diseases. Our study purpose was to examine and compare NBS1 genotype distributions in a group of Taiwanese SLE patients and controls in Taiwan.

PATIENTS AND METHODS:

Participants were Taiwanese SLE patients and healthy controls. We studied associations among NBS1 polymorphisms--rs1061302, rs709816, and rs1805794--considering clinical features for the entire group and stratified subgroups. No statistically significant differences between the patients and controls were noted. However, we observed significant decreases in Ht1-GGG, Ht2-AAC, and Ht3-AGC in the SLE patients (Ht1-GGG, OR = 0.26, 95% CI: 0.16-0.41; Ht2-AAC, OR = 0.30, 95% CI: 0.17-0.53; Ht3-AGC, OR = 0.35, 95% CI: 0.19-0.71) and significant increases in Ht4-AAG, Ht5-AGG, and Ht8-GGC among the SLE patients. Combined, these results suggest an association between NBS1 genetic polymorphisms and Taiwanese SLE patients.

• Authors: Ying-Ju Lin, Yu-Ching Lan, Lei Wan, Chung-Ming Huang, Cheng-Wen Lin, Kai-Chung Hsueh, Da-Yuan Chen, Ting-Hsu Lin, Fuu-Jen Tsai
• Journal: Journal of clinical immunology (J Clin Immunol) Vol. 30 Issue 5 Pg. 643-8 (Sep 2010) ISSN: 1573-2592 [Electronic] Netherlands
• PMID: 20571895 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cell Cycle Proteins
• NBN protein, human
• Nuclear Proteins

Topics

• Cell Cycle Proteins (genetics, immunology, metabolism)
• DNA Mutational Analysis
• DNA Repair (genetics, immunology)
• Gene Frequency
• Genetic Association Studies
• Genetic Predisposition to Disease
• Genotype
• Humans
• Lupus Erythematosus, Systemic (epidemiology, genetics, immunology, physiopathology)
• Nuclear Proteins (genetics, immunology, metabolism)
• Polymorphism, Single Nucleotide
• Risk
• Taiwan