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Analysis of the SREBF2 gene as a genetic risk factor for vascular dementia
Author(s) -
Kim Younyoung,
Nam Yu Jin,
Lee Chaeyoung
Publication year - 2005
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30217
Subject(s) - haplotype , single nucleotide polymorphism , dementia , vascular dementia , genotype , odds ratio , pathogenesis , allele , medicine , case control study , genetics , risk factor , genetic association , endocrinology , gene , biology , disease
A case‐control study was performed to examine the association between vascular dementia and the polymorphisms of the human gene encoding sterol regulatory element binding protein‐2 ( SREBF2 ) that regulates cholesterol metabolism. The 16 genetic variants of SREBF2 were identified in 24 Koreans, and 5 out of 16 variants were genotyped in 207 vascular dementia patients and 207 control subjects. Significant association with vascular dementia was shown in 34995G/T with the GT genotype (odds ratio [OR] = 1.57; 95% CI = 1.04–2.37; P < 0.05) and the GG genotype (OR = 0.65; 95% CI = 0.44–0.96; P < 0.05). The CGC, the most common haplotype combined with three SNPs, 24489C/T, 34995G/T, and 68891C/T, was associated with the disease (OR = 0.72; 95% CI = 0.53–0.97; P < 0.05), and the individuals with the CGC might be less susceptible to vascular dementia than those carrying any haplotype including at least one minor allele. This study implied that the variants of SREBF2 might be genetic factors involved in the pathogenesis of vascular dementia. © 2005 Wiley‐Liss, Inc.