TREX1 polymorphisms associated with autoantibodies in patients with systemic lupus erythematosus

Jin Wuk Hur, Yoon-Kyoung Sung, Hyoung Doo Shin, Byung Lae Park, Hyun Sub Cheong, Sang Cheol Bae

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Three-prime repair exonucleases 1 and 2 (TREX1 and TREX2) play a role in the metabolism and clearance of DNA. The objective of this study was to confirm whether polymorphisms of TREX1 and TREX2 are associated with genetic susceptibility to systemic lupus erythematosus (SLE), and examine associations with autoantibodies (auto-Abs) in SLE. We investigated the genetic variants in 24 Korean individuals by direct sequencing. The genotype distributions of single-nucleotide polymorphisms (SNPs) and haplotypes were analyzed with multiple logistic regression models while controlling for covariates. We identified 12 and 5 SNPs of TREX1 and TREX2, of which -20260G>C, -389T>C, -381C>T, and +531C>T SNPs of TREX1; -23386G>C, -14703G>A, -7279C>T, and +1747C>T SNPs of TREX2; and each of three haplotypes were selected for larger scale genotyping (n = 1,053). No statistically significant association with the risk of SLE was observed in TREX1 and TREX2. TREX1 polymorphism -20260G>C showed protective effect on the production of anti-Ro Ab, and +531C>T in exon 16 and ht2 [G-T-C-T] showed also protective effect on the production of anti-dsDNA Ab, although the effect of +531C>T disappeared after multiple correction.

Original languageEnglish
Pages (from-to)783-789
Number of pages7
JournalRheumatology International
Volume28
Issue number8
DOIs
StatePublished - 2008 Jan 1

Fingerprint

Systemic Lupus Erythematosus
Autoantibodies
Single Nucleotide Polymorphism
Haplotypes
Logistic Models
Genetic Predisposition to Disease
Exons
Genotype
DNA

Keywords

  • Single-nucleotide polymorphism
  • Systemic lupus erythematosus
  • TREX

Cite this

Hur, Jin Wuk ; Sung, Yoon-Kyoung ; Shin, Hyoung Doo ; Park, Byung Lae ; Cheong, Hyun Sub ; Bae, Sang Cheol. / TREX1 polymorphisms associated with autoantibodies in patients with systemic lupus erythematosus. In: Rheumatology International. 2008 ; Vol. 28, No. 8. pp. 783-789.
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TREX1 polymorphisms associated with autoantibodies in patients with systemic lupus erythematosus. / Hur, Jin Wuk; Sung, Yoon-Kyoung; Shin, Hyoung Doo; Park, Byung Lae; Cheong, Hyun Sub; Bae, Sang Cheol.

In: Rheumatology International, Vol. 28, No. 8, 01.01.2008, p. 783-789.

Research output: Contribution to journalArticle

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AU - Hur, Jin Wuk

AU - Sung, Yoon-Kyoung

AU - Shin, Hyoung Doo

AU - Park, Byung Lae

AU - Cheong, Hyun Sub

AU - Bae, Sang Cheol

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