Background and Purpose-Transforming growth factor-1 (TGF-1) is an anti-inflammatory cytokine that plays an important role in cerebrovascular pathophysiology with protective activity against ischemia-induced neuronal death. We investigated the association of the polymorphism in TGFB1 with ischemic stroke and vascular dementia. Methods-Three sequence variants in and around promoter and exons of TGFB1 gene were identified in 30 Koreans.Pro10Leu was selected for association study, and then control subjects (nϭ207) and patients with ischemic stroke (nϭ271) and vascular dementia (nϭ207) were screened. Results-Subjects carrying Leu/Leu were susceptible to both ischemic stroke (odds ratio [OR]
A case-control study was performed to identify single nucleotide variants of vascular endothelial growth factor (VEGF) gene associated with vascular dementia. Seven SNPs in promoter, 5'-UTR, 3'-UTR, and introns of VEGF gene were identified in 24 Koreans. Three of them, -1154G/A, -7C/T, and 13553C/T, were selected based on allele frequency and linkage disequilibrium (LD), and genotyped in 207 vascular dementia patients and 207 control subjects. Significant association with vascular dementia was not shown (P > 0.05) in the alleles and genotypes of single locus. Subsequent analysis of composing VEGF risk haplotypes associated with vascular dementia was performed with maximum likelihood estimates of their possible haplotypes employing the expectation-maximization (EM) algorithm. Of three-locus haplotypes, only GTC was significantly associated with vascular dementia, conferring a risk of 1.87 (P < 0.05). Of two-locus haplotypes, the risk was observed with the nested forms of the risk haplotype GTC, that is, GT at the loci -1154G/A and -7C/T and TC at the loci -7C/T and 13553C/T (P < 0.05). Our findings suggested some interaction among -1154G/A, -7C/T, and 13553C/T variants in the determination of risk for vascular dementia.
Associations of obesity with its candidate genes, b-adrenergic receptor genes (ADRBs), peroxisome proliferator-activated receptor-c (PPARc), and uncoupling proteins (UCPs) were studied in Korean adolescents. We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma leptin and insulin levels, fasting glucose concentration, and plasma lipid profile in 329 teenagers to investigate the effects of seven single nucleotide variants 252G/A, 523C/ A and 1053G/C in ADRB2; Trp64Arg in ADRB3; 161C/ T in PPARc; Ala55Val in UCP2; and 210C/T in UCP3. The 1053G/C polymorphism (P < 0.05) in the ADRB2 gene and the Trp64Arg polymorphism (P < 0.01) in the ADRB3 gene were associated with BMI after adjustment for dietary energy intake. Trp64Arg polymorphism also influenced percentage of body fat (P < 0.01) and plasma leptin level (P < 0.05). Furthermore, significant interaction effects between the 1053G/C and Trp64Arg polymorphisms were observed on BMI (P < 0.01). The polymorphisms of the ADRB2 and ADRB3 genes explained 4.3% and 10.1% of the variation on BMI, and the two loci effect, including their epistasis, explained 18.3%. We concluded that 1053G/C and Trp64Arg polymorphisms of the ADRB genes additively and interactively contributed to the variation of complex adolescent obesity.
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