title: INSIG2 G-102A promoter variant exhibits context-dependent effect on HDL-cholesterol levels but not on BMI in Caucasians.
abstract: The INSIG2 (INSIG2 is primarily involved             in the regulation of fatty acid and cholesterol synthesis)             gene is suggested to be obesity related. An INSIG2             promoter variant, G-102A, has been detected and             was demonstrated to be of potential functional significance.             In two cohorts of middle-aged men, the association             between this variant and BMI was suggested.             We sought to replicate the association between             the INSIG2 G-102A variant and BMI in three large             Slavonic Caucasian populations. Further, we analysed             the possible effect of this variant on BMI             changes in a short-time intervention study. One thousand             ninety-nine males and 1368 females (population-             based Czech MONICA three-year cohort), 908             females from the 3PMFs study, together with 94             overweight (BMI > 27 kg/m2) females who underwent             nine weeks of dietary/exercise intervention             were genotyped for the INSIG2 G-102A variant using             PCR-RFLP analysis. We could not detect any association             between the INSIG2 G-102A variant and             BMI or WHR with or without adjusting for age and             gender in any population. Neither the BMI change             nor anthropometric and lipid parameter changes             were affected by the INSIG2 G-102A gene variant in             intervened overweight females. However, MONICA             females (but not males) carrying the common GG             genotype had higher plasma levels of HDL cholesterol             (GG homozygotes 1.51 ± 0.36 mmol/l vs. A allele             carriers 1.45 ± 0.33; P < 0.05) in both surveys. Our             results indicated that the G-102A INSIG2 polymorphism             has no consistent effect on BMI in general             populations, but could influence HDL cholesterol in             females.
authors: Institute for Clinical and Experimental Medicine, Prague, Czech Republic. jahb@ikem.cz
authors: J A
authors: JA
authors: Hubáček
authors: P
authors: P
authors: Suchánek
authors: V
authors: V
authors: Lánská
authors: J
authors: J
authors: Piťha
authors: V
authors: V
authors: Adámková
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D015992:Body Mass Index; D008076:Cholesterol, HDL / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics*; D044465:White People
chemical_list: D008076:Cholesterol, HDL; C467727:INSIG2 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins