PMID- 14651527 OWN - NLM STAT- MEDLINE DCOM- 20041115 LR - 20190827 IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 63 IP - 1 DP - 2004 Jan TI - TNF-alpha promoter polymorphisms and extended HLA and TNF-alpha haplotypes in Koreans based on 100 families. PG - 75-9 AB - We investigated five single-nucleotide polymorphism (SNP) sites of tumor necrosis factor-alpha (TNF-alpha) promoter, the distribution of five-locus TNF-alpha haplotypes, and extended human leukocyte antigen (HLA)/TNF-alpha haplotypes in 200 parents from 100 unrelated Korean families. TNF-alpha SNPs were typed using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) and PCR restriction fragment length polymorphism (PCR-RFLP) methods. The frequencies of -1031C, -863A, -857T, -308A, and -238A alleles were 0.185, 0.145, 0.140, 0.060, and 0.040, respectively. The allele frequencies in Koreans were similar to those of Japanese. A total of five TNF-alpha haplotypes (-1031/-863/-857/-308/-238) were detected in 196 parents: TCCGG (frequency 0.617), CACGG (0.143), TCTGG (0.143), TCCAG (0.061), and CCCGA (0.036). Five most common extended HLA/TNF-alpha haplotypes (frequencies >0.020) accounted for 16% (63/392) of the total haplotypes. A total of 223 HLA haplotypes and 239 HLA/TNF-alpha haplotypes were detected, indicating that most HLA haplotypes are exclusively associated with particular TNF-alpha haplotypes. FAU - Park, Y J AU - Park YJ AD - Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, South Korea. FAU - Park, H AU - Park H FAU - Park, M H AU - Park MH LA - eng PT - Journal Article PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (HLA Antigens) RN - 0 (Tumor Necrosis Factor-alpha) SB - IM MH - Family MH - HLA Antigens/*genetics/immunology MH - Haplotypes/*genetics MH - Humans MH - Korea MH - Linkage Disequilibrium/genetics MH - *Polymorphism, Single-Stranded Conformational MH - Promoter Regions, Genetic/*genetics MH - Tumor Necrosis Factor-alpha/*genetics EDAT- 2003/12/04 05:00 MHDA- 2004/11/16 09:00 CRDT- 2003/12/04 05:00 PHST- 2003/12/04 05:00 [pubmed] PHST- 2004/11/16 09:00 [medline] PHST- 2003/12/04 05:00 [entrez] AID - 148 [pii] AID - 10.1111/j.1399-0039.2004.00148.x [doi] PST - ppublish SO - Tissue Antigens. 2004 Jan;63(1):75-9. doi: 10.1111/j.1399-0039.2004.00148.x.