The -1535 promoter variant of the visfatin gene is associated with serum triglyceride and HDL-cholesterol levels in Japanese subjects.
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.
Tokunaga
Ayumi
A
Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Japan.
Miura
Atsuko
A
Okauchi
Yukiyoshi
Y
Segawa
Katsumori
K
Fukuhara
Atsunori
A
Okita
Kohei
K
Takahashi
Masahiko
M
Funahashi
Tohru
T
Miyagawa
Jun-Ichiro
J
Shimomura
Iichiro
I
Yamagata
Kazuya
K
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*
D008076:Cholesterol, HDL; D016207:Cytokines; D014280:Triglycerides; D054409:Nicotinamide Phosphoribosyltransferase; C085455:nicotinamide phosphoribosyltransferase, human