Relevance of CYP27B1 gene promoter polymorphism to autoimmune thyroid diseases.
- Author:
Jing YANG
1
;
Feng XIONG
Author Information
- Publication Type:Journal Article
- MeSH: 25-Hydroxyvitamin D3 1-alpha-Hydroxylase; genetics; Adolescent; Alleles; Child; Female; Gene Frequency; Genotype; Graves Disease; genetics; Hashimoto Disease; genetics; Humans; Linkage Disequilibrium; Male; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Promoter Regions, Genetic; genetics; Thyroiditis, Autoimmune; genetics
- From: Journal of Southern Medical University 2008;28(4):606-608
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the relationship between CYP27B1 gene promoter polymorphism and autoimmune thyroid diseases.
METHODSA case-control study including 158 patients with Graves' disease (GD), 174 patients with Hashimoto's thyroiditis (HT) and 172 matched controls was conducted. Three genotypes of CYP27 B1 gene -1260 site (CC, AA and AC) were determined by restriction fragment length polymorphism (PCR-RFLP) assay and confirmed by sequencing.
RESULTSThe genotypic distribution of CYP27 B1 gene-1260 site showed no deviation from Hardy-Weinberg equilibrium. The genotype and allele frequencies of -1260A/C were CC34.3%, AA19.2%, AC46.5%, C57.6%, and A42.4% in the control group, 48.1%, 13.3%, 38.6%, 67.4%, and 32.6% in GD group, and 47.1%, 10.3%, 42.5%, 68.4%, and 31.6% in HT group, respectively. Significant difference was found in the genotype and allele frequencies in -1260A/C polymorphism between GD and the control groups (Chi2=6.80, P<0.05 for genotype frequencies, and Chi2=6.79, P<0.05 for allele frequencies) and between HT and the control groups (Chi2=8.39, P<0.05 for genotype frequencies, and Chi2=8.71, P<0.05 for allele frequencies).
CONCLUSIONCYP27 B1 promoter -1260 polymorphism is associated with GD or HT in Chinese Han population.
