title: The -1535 promoter variant of the visfatin gene is associated with serum triglyceride and HDL-cholesterol levels in Japanese subjects.
abstract: Visfatin is a novel adipocytokine that is expressed by the visceral fat cells. We investigated the role of genetic variation in the visfatin gene in the pathophysiology of type 2 diabetes and clinical variables in Japanese subjects. The 11 exons, and the promoter region of the visfatin gene were screened for single nucleotide polymorphisms (SNPs) by PCR-direct sequencing. We found SNPs in the promoter region (SNP - 1535T>C), exon 2 (SNP + 131C>G, Thr44Arg), and exon 7 (SNP + 903G>A). The allele and genotype frequencies of these SNPs showed no significant differences between 200-448 diabetic and 200-333 control subjects. However, the -1535T/T genotype was associated with lower serum triglyceride levels (T/T vs. T/C + C/C (p = 0.015) and T/T vs. C/C (p = 0.043)) and higher HDL-cholesterol levels (T/T vs. C/C, p = 0.0496) in the nondiabetic subjects. Reporter gene assay of 3T3-L1 adipocytes revealed that the promoter activity of -1535T and -1535C was similar, suggesting that the observed association may reflect linkage disequilibrium between -1535T>C and causative variations of the visfatin gene.
authors.affiliation: Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Japan.
authors.forename: Ayumi
authors.initials: A
authors.lastname: Tokunaga
authors.forename: Atsuko
authors.initials: A
authors.lastname: Miura
authors.forename: Yukiyoshi
authors.initials: Y
authors.lastname: Okauchi
authors.forename: Katsumori
authors.initials: K
authors.lastname: Segawa
authors.forename: Atsunori
authors.initials: A
authors.lastname: Fukuhara
authors.forename: Kohei
authors.initials: K
authors.lastname: Okita
authors.forename: Masahiko
authors.initials: M
authors.lastname: Takahashi
authors.forename: Tohru
authors.initials: T
authors.lastname: Funahashi
authors.forename: Jun-Ichiro
authors.initials: J
authors.lastname: Miyagawa
authors.forename: Iichiro
authors.initials: I
authors.lastname: Shimomura
authors.forename: Kazuya
authors.initials: K
authors.lastname: Yamagata
mesh_terms: D041721:3T3-L1 Cells; D000368:Aged; D000818:Animals; D008076:Cholesterol, HDL / Q000097:blood* / Q000235:genetics*; D016207:Cytokines / Q000235:genetics*; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D017930:Genes, Reporter; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D051379:Mice; D008875:Middle Aged; D054409:Nicotinamide Phosphoribosyltransferase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D014162:Transfection; D014280:Triglycerides / Q000097:blood* / Q000235:genetics*
chemical_list: D008076:Cholesterol, HDL; D016207:Cytokines; D014280:Triglycerides; D054409:Nicotinamide Phosphoribosyltransferase; C085455:nicotinamide phosphoribosyltransferase, human