Genomics Inform.  2008 Mar;6(1):29-31.

Functional Haplotype Frequencies of the Interleukin-1B Promoter in the Korean Population

Affiliations
  • 1Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul 120-749, Korea. KAL1119@yuhs.ac

Abstract

Single nucleotide polymorphisms (SNPs) in the promoter region of the IL-1B (interleukin-1) gene have been implicated in a variety of diseases that have an inflammatory component. However, there has been significant heterogeneity among study results, especially between Caucasian and Asian populations. Recently, it has been reported that SNPs in the IL-1B gene affect transcription, according to haplotype context, and genetic association studies may be more informative if functional SNP haplotypes of population are analyzed. Therefore, we estimated the distribution of IL-1B promoter haplotypes in 433 Koreans using the three major functional IL-1B promoter SNPs (IL-1B -1464, -511, and -31) and compared the results with those in Caucasians. The difference in IL-1B promoter haplotype frequency between Korean and Caucasian populations was statistically significant. The potentially more inflammatory haplotypes had higher frequencies in Koreans when compared with Caucasians. These Korean haplotype data will be useful for future association studies between IL-1B SNPs and disease risk.

Keyword

Interleukin-1B; polymorphism; haplotype; Korean

MeSH Terms

Asian Continental Ancestry Group
Genetic Association Studies
Haplotypes
Humans
Polymorphism, Single Nucleotide
Population Characteristics
Promoter Regions, Genetic
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