PMID- 20349238 OWN - NLM STAT- MEDLINE DCOM- 20120109 LR - 20221207 IS - 1437-160X (Electronic) IS - 0172-8172 (Linking) VI - 31 IP - 9 DP - 2011 Sep TI - Polymorphisms of tumor necrosis factor-alpha promoter region for susceptibility to HLA-B27-positive ankylosing spondylitis in Korean population. PG - 1167-75 LID - 10.1007/s00296-010-1434-1 [doi] AB - This study designed to assess the relationship between tumor necrosis factor (TNF)-alpha promoter polymorphisms and disease susceptibility to human leukocyte antigen (HLA)-B27-positive ankylosing spondylitis (AS). One hundred and nineteen HLA-B27(+) AS patients, 95 HLA-B27(+) healthy controls, and 135 random healthy controls were enrolled in this study. Six single nucleotide polymorphisms (SNPs) of the TNF-alpha promoter at positions -1031T/C, -863C/A, -857C/T, -646G/A, -308G/A, and -238G/A were analyzed. Differences between groups were evaluated using the chi-square test or Fisher's exact test. Haplotypes from each SNP were constructed, and differences in haplotypic frequencies between groups were evaluated. There were significant differences in the allelic and genotypic frequencies of 1031T/C, -863C/A, and -857C/T TNF-alpha promoters polymorphisms between HLA-B27(+) AS patients and random controls, but not between patients with AS and HLA-B27(+) healthy individuals. TNF-alpha polymorphisms did not influence the extra-spinal clinical features in patients with AS. The haplotypic sequence -1031T/-863C/-857C/-308G increased the risk of susceptibility to AS compared to random controls (P (corr) < 0.001, OR = 2.756, 95% CI = 1.894-4.010), whereas the sequence -1031C/-863A/-857C/-308G appeared to be associated with decreased susceptibility to AS compared to random controls (P (corr) = 0.006, OR = 0.396, 95% CI = 0.231-0.679). This study indicates that TNF-alpha promoter polymorphism between controls and AS patients with HLA-B27(+) genetic background is not associated with susceptibility to AS. However, TNF-alpha polymorphism, irrespective of HLA-B27, increases risk of susceptibility to AS in general population. FAU - Chung, Won-Tae AU - Chung WT AD - Department of Internal Medicine, Dong-A University College of Medicine, Busan, South Korea. FAU - Choe, Jung-Yoon AU - Choe JY FAU - Jang, Won Cheoul AU - Jang WC FAU - Park, Su Min AU - Park SM FAU - Ahn, Young Chang AU - Ahn YC FAU - Yoon, Il Kyu AU - Yoon IK FAU - Kim, Tae-Hwan AU - Kim TH FAU - Nam, Youn-Hyoung AU - Nam YH FAU - Park, Sung-Hoon AU - Park SH FAU - Lee, Sung-Won AU - Lee SW FAU - Kim, Seong-Kyu AU - Kim SK LA - eng PT - Journal Article DEP - 20100328 PL - Germany TA - Rheumatol Int JT - Rheumatology international JID - 8206885 RN - 0 (HLA-B27 Antigen) RN - 0 (Tumor Necrosis Factor-alpha) SB - IM MH - Asian People/genetics/statistics & numerical data MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease/*genetics MH - HLA-B27 Antigen/*genetics MH - Haplotypes/genetics MH - Humans MH - Male MH - *Polymorphism, Genetic MH - Polymorphism, Single Nucleotide MH - Promoter Regions, Genetic/*genetics MH - Spondylitis, Ankylosing/*genetics MH - Tumor Necrosis Factor-alpha/*genetics EDAT- 2010/03/30 06:00 MHDA- 2012/01/10 06:00 CRDT- 2010/03/30 06:00 PHST- 2009/11/25 00:00 [received] PHST- 2010/03/12 00:00 [accepted] PHST- 2010/03/30 06:00 [entrez] PHST- 2010/03/30 06:00 [pubmed] PHST- 2012/01/10 06:00 [medline] AID - 10.1007/s00296-010-1434-1 [doi] PST - ppublish SO - Rheumatol Int. 2011 Sep;31(9):1167-75. doi: 10.1007/s00296-010-1434-1. Epub 2010 Mar 28.