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DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients.

Abstract：

:DNase II is an important enzyme for DNA fragmentation and degradation during programmed cell death and, consequently, a potential candidate gene for genetic study of systemic lupus erythematosus (SLE). Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE. A total of 350 Korean SLE patients and 330 healthy subjects were enrolled. Direct DNA sequencing and TaqMan were employed. Logistic regression analyses were performed to examine the genetic association with SLE and related phenotypes. Through direct sequencing in 24 Korean individuals, six sequence variants were identified: one in the 5' flanking region, four in exons (including one nonsynonymous), and one in the 3' flanking region. Four of these polymorphisms were selected for a larger-scale genotyping (350 SLE patients and 330 normal controls). No significant associations with the risk of SLE were detected. However, further analyses of association with the risk of renal disorder among SLE patients revealed several positive associations. One promoter SNP (-1066G>C), +2630T>C (Ser145Ser), +6235G>C and one haplotype showed weak associations with the risk of nephritis among SLE patients.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Shin HD,Park BL,Cheong HS,Lee HS,Jun JB,Bae SC

doi

10.1007/s10038-004-0227-3

keywords:

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

107-111

issue

3

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-004-0227-3

journal_volume

50

pub_type

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