title: Novel promoter polymorphism in RUNX2 is associated with serum triglyceride level.
abstract: Much research evidence supports the hypothesis that chronic, low-grade inflammation related to innate immunity may play an important role in the pathophysiology of type 2 diabetes mellitus (T2DM). Runt-related transcription factor 2 (RUNX2; MIM# 600211) acts as a scaffold that controls the integration, organization, and assembly of nucleic acids. To examine whether the novel promoter variant in RUNX2 is associated with the risk of T2DM and related phenotypes, RUNX2-742G > T was genotyped in 378 T2DM patients and 382 normal controls recruited in the Korean T2DM Study. Statistical analysis revealed that RUNX2-742G > T was associated with serum triglyceride level (TG) in nondiabetic controls, although it was not associated with the risk of T2DM. Individuals who carry T/T, T/G, and G/G genotypes had the highest (2.061 +/- 0.20), intermediate (2.01 +/- 0.19), and the lowest (1.97 +/- 0.18) levels of log [TG (mmol/l)] (P = 0.007), respectively. Our data on this important variant of RUNX2 suggest that lipid metabolism might be affected by genetic polymorphisms in the promoter region.
authors.affiliation: Department of Life Science, Sogang University, Seoul 121-742, Korea.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
authors.forename: Jae-Pil
authors.initials: JP
authors.lastname: Jeon
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Joon Seol
authors.initials: JS
authors.lastname: Bae
authors.forename: Hye-Young
authors.initials: HY
authors.lastname: Nam
authors.forename: Sung-Mi
authors.initials: SM
authors.lastname: Shim
authors.forename: Kyong Soo
authors.initials: KS
authors.lastname: Park
authors.forename: Bok-Ghee
authors.initials: BG
authors.lastname: Han
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic; D012044:Regression Analysis; D012727:Sex Characteristics; D014280:Triglycerides / Q000097:blood*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human; D014280:Triglycerides