Linkage disequilibrium analysis of -31, -511, -1470 single nucleotide polymorphisms in the promoter of IL-1 beta in Chongqing population.
- Author:
Ai-qing WEN
1
;
Jian-xin JIANG
;
Pei-fang ZHU
;
Kai FENG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; China; Female; Gene Frequency; Genotype; Haplotypes; Humans; Interleukin-1beta; genetics; Linkage Disequilibrium; Male; Middle Aged; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; genetics
- From: Chinese Journal of Medical Genetics 2004;21(4):412-414
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the frequencies of -31, -511 and -1470 single nucleotide polymorphisms (SNPs) in the promoter of IL-1 beta in Chongqing population and address the question whether they are in linkage disequilibrium (LD).
METHODSOne hundred and twelve healthy Chongqing people were enrolled in this study. Polymorphisms at -31 (C>T), -511 (T>C) and -1470 (G>C) of IL-1 beta were genotyped with the method of restriction fragment length polymorphism (RFLP). Haplotype frequencies were evaluated with Arlequine software. Two-point LD analyses were done with the software TransposerV1-0. The P values were determined by Pearson chi square test analysis.
RESULTSAllelic frequencies of IL-1 beta -31, -511 and -1470 were 45.33%, 50.00% and 41.67%, respectively. The dominant haplotypes comprising the three loci were T-C-G (44.1%), C-T-C(40.3%) and C-T-G(8.8%), LD analyses revealed that none of the LD parameters(delta value) was 0. Meanwhile, chi square test showed P<0.005.
CONCLUSION-31, -511 and -1470 loci in the promoter region of IL-1 beta are in strong linkage disequilibrium. And this study provides a basis for searching disease-related IL-1 beta haplotye.
