DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients.
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.
Shin
Hyoung Doo
HD
Department of Genetic Epidemiology, SNP Genetics, Inc., 11th Floor, MaeHun B/D, 13 Chongro 4 Ga, Chongro-Gu, Seoul, 110-834, South Korea.
Park
Byung Lae
BL
Department of Genetic Epidemiology, SNP Genetics, Inc., 11th Floor, MaeHun B/D, 13 Chongro 4 Ga, Chongro-Gu, Seoul, 110-834, South Korea.
Cheong
Hyun Sup
HS
Department of Genetic Epidemiology, SNP Genetics, Inc., 11th Floor, MaeHun B/D, 13 Chongro 4 Ga, Chongro-Gu, Seoul, 110-834, South Korea.
Lee
Hye-Soon
HS
Department of Internal Medicine, Division of Rheumatology, the Hospital for Rheumatic Diseases, Hanyang University Medical Center, 17 Haengdang-Dong, Seongdong-Gu, Seoul, 133-792, South Korea.
Jun
Jae-Bum
JB
Department of Internal Medicine, Division of Rheumatology, the Hospital for Rheumatic Diseases, Hanyang University Medical Center, 17 Haengdang-Dong, Seongdong-Gu, Seoul, 133-792, South Korea.
Bae
Sang-Cheol
SC
Department of Internal Medicine, Division of Rheumatology, the Hospital for Rheumatic Diseases, Hanyang University Medical Center, 17 Haengdang-Dong, Seongdong-Gu, Seoul, 133-792, South Korea. scbae@hanyang.ac.kr.
D004706:Endodeoxyribonucleases / Q000235:genetics*; D040461:Gene Components; D005838:Genotype; D006801:Humans; D007723:Korea; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics*; D009393:Nephritis / Q000150:complications / Q000235:genetics*; D011110:Polymorphism, Genetic; D018570:Risk Assessment; D017422:Sequence Analysis, DNA
D004706:Endodeoxyribonucleases; C019329:deoxyribonuclease II
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