title: Functional variants of lipid level modifier MLXIPL, GCKR, GALNT2, CILP2, ANGPTL3 and TRIB1 genes in healthy Roma and Hungarian populations.
abstract: The role of triglyceride metabolism in different diseases, such as cardiovascular or cerebrovascular diseases is still under extensive investigations. In genome-wide studies several polymorphisms have been reported, which are highly associated with plasma lipid level changes. Our goal was to examine eight variants: rs12130333 at the ANGPTL3, rs16996148 at the CILP2, rs17321515 at the TRIB1, rs17145738 and rs3812316 of the MLXIPL, rs4846914 at GALNT2, rs1260326 and rs780094 residing at the GCKR loci. A total of 399 Roma (Gypsy) and 404 Hungarian population samples were genotyped using PCR-RFLP method. Significant differences were found between Roma and Hungarian population samples in both MLXIPL variants (C allele frequency of rs17145738: 94.1% vs. 85.6%, C allele frequency of rs3812316: 94.2% vs. 86.8% in Romas vs. in Hungarians, p < 0.05), in ANGPTL3 (T allele frequency of rs1213033: 12.2% vs. 18.5% in Romas vs. Hungarians, p < 0.05) and GALNT2 (G allele frequency of rs4846914: 46.6% vs. 54.5% Romas vs. in Hungarians, p < 0.05), while no differences over SNPs could be verified and the known minor alleles showed no correlation with triglyceride levels in any population samples. The current study revealed fundamental differences of known triglyceride modifying SNPs in Roma population. Failure of finding evidence for affected triglyceride metabolism shows that these susceptibility genes are much less effective compared for example to the apolipoprotein A5 gene.
authors.affiliation: Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti u. 12, Pecs, H-7624, Hungary, sumegi.katalin@pte.hu.
authors.forename: Katalin
authors.initials: K
authors.lastname: Sumegi
authors.forename: Luca
authors.initials: L
authors.lastname: Jaromi
authors.forename: Lili
authors.initials: L
authors.lastname: Magyari
authors.forename: Erzsebet
authors.initials: E
authors.lastname: Kovesdi
authors.forename: Balazs
authors.initials: B
authors.lastname: Duga
authors.forename: Renata
authors.initials: R
authors.lastname: Szalai
authors.forename: Anita
authors.initials: A
authors.lastname: Maasz
authors.forename: Petra
authors.initials: P
authors.lastname: Matyas
authors.forename: Ingrid
authors.initials: I
authors.lastname: Janicsek
authors.forename: Bela
authors.initials: B
authors.lastname: Melegh
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000091303:Angiopoietin-Like Protein 3; D000075802:Angiopoietin-like Proteins; D042682:Angiopoietins / Q000235:genetics*; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D015415:Biomarkers / Q000032:analysis*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D006814:Hungary; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000037:antagonists & inhibitors* / Q000235:genetics; D014280:Triglycerides / Q000097:blood*; D000097763:Polypeptide N-acetylgalactosaminyltransferase
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000091303:Angiopoietin-Like Protein 3; D000075802:Angiopoietin-like Proteins; D042682:Angiopoietins; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D015415:Biomarkers; D047908:Intracellular Signaling Peptides and Proteins; D008869:Microtubule-Associated Proteins; D017350:N-Acetylgalactosaminyltransferases; D017346:Protein Serine-Threonine Kinases; D014280:Triglycerides; D000097763:Polypeptide N-acetylgalactosaminyltransferase; C479896:ANGPTL3 protein, human; C485100:GCKR protein, human; C116385:MLXIPL protein, human; C493170:TRIB1 protein, human; C109878:cytoplasmic linker protein 115