Diabetes mellitus 2. typu (DM 2) je komplexné ochorenie, v patogenéze ktorého zohráva dôležitú úlohu viacero génov. Účinok jednotlivých génov nie je veľký, ale vo vzájomnej interakcii a v súčinnosti s faktormi vonkajšieho prostredia zvyšujú riziko vzniku a rozvoja DM 2. Výsledky metaanalýz sledujúcich asociáciu polymorfizmov kandidátskych génov s rizikom vzniku diabetu poukazujú na priemerné 1,1 až 1,8-násobné zvýšenie rizika u nosičov rizikovej alely jednotlivých polymorfizmov. Z hľadiska patogenézy DM2 ide o gény ovplyvňujúce predovšetkým inzulínovú sekréciu alebo inzulínovú senzitivitu. Z génov ovplyvňujúcich sekréciu inzulínu sa zistili najsilnejšie asociácie s génom kódujúcim transkripčný faktor 7 (TCF7L2) a génmi kódujúcimi sulfonylureový receptor (KCNJ11, ABCC8). Z génov, ktorých produkty ovplyvňujú inzulínovú senzitivitu, bola najčastejšie reprodukovaná asociácia s génom PPARG, ktorý kóduje peroxizómovým proliferátorom aktivovaný receptor γ (PPARγ). Cieľom skúmania genetického pozadia DM2 je lepšie pochopenie genetickej a molekulárnej etiológie tejto častej metabolickej choroby za účelom jej efektívnejšej liečby, prevencie, predikcie budúcich komplikácií a prognózy.

Type 2 diabetes mellitus (DM2) is a complex illness where the role of more genes is very important. Effect of particular genes is not that big but their mutual interaction together with environmental factors can increase the risk of development of DM2. Results of metanalyses monitoring the association of polymorphisms of candidate genes with the risk of development of diabetes show 1.1 to 1.8 -fold increase of the risk in carriers of risk aleles of particular polymorphisms. Pathogenetically they are genes affecting mostly insulin secretion or insulin sensitivity. The strongest association of genes affecting insulin secretion were detected with a gene coding transcription factor 7 (TCF7L2) and genes coding sulphonylures receptor (KCNJ11, ABCC8).Genes affecting insulin sensitivity were associated with a gene PPARG coding peroxizome proliferator activated receptor γ (PPARγ). The aim of research of DM2 genetic background is to understand genetic and molecular aetiology of this frequent metabolic disease that result may in more efficient treatment, prevention, prediction of future complications and prognosis.

Dyslipidemia in the metabolic syndrome (MS) is considered to be one of the most important risk factors for atherosclerosis. It is characterized by hypertriglyceridemia, low concentration of plasma HDL-cholesterol, predominance of small dense LDL particles and an increased concentration of plasma apolipoprotein B (apoB). The pathogenesis of this type of dyslipidemia is partially explained, but its genetic background is still unknown. To evaluate the influence of cholesterol ester transfer protein (CETP) TaqIB polymorphism, lipoprotein lipase (LPL) PvuII and HindIII polymorphisms, hepatic lipase (LIPC) G-250A polymorphism and apolipoprotein C-III (APOC3) SstI gene polymorphism on lipid levels in dyslipidemia of the metabolic syndrome, 150 patients with dyslipidemia of metabolic syndrome were included. 96 % of patients had type 2 diabetes. The patients did not take any lipid lowering treatment. The exclusion criterion was the presence of any disease that could affect lipid levels, such as thyroid disorder, liver disease, proteinuria or renal failure. Gene polymorphisms were determined using the polymerase chain reaction and restriction fragment length polymorphisms. The genotype subgroups of patients divided according to examined polymorphisms did not differ in plasma lipid levels with the exception of apoB. The apoB level was significantly higher in patients with S1S1 genotype of APOC3 SstI polymorphism when compared with S1S2 group (1.10±0.26 vs. 0.98±0.21 g/l, p=0.02). Similarly, patients with H-H- genotype of LPL HindIII polymorphism had significantly higher mean apoB, compared with H+H- and H+H+ group (1.35±0.30 vs. 1.10±0.26 g/l, p=0.02). In the multiple stepwise linear regression analysis, apoB level seemed to be influenced by APOC3 SstI genotype, which explained 6 % of its variance. The present study has shown that the S1 allele of APOC3 SstI polymorphism and the H- allele of LPL HindIII polymorphism might have a small effect on apoB levels in the Central European Caucasian population with dyslipidemia of metabolic syndrome.

• MeSH
• apolipoproteiny B genetika   krev   metabolismus   MeSH
• DNA genetika   krev   MeSH
• financování vládou MeSH
• hyperlipidemie etiologie   genetika   metabolismus   MeSH
• interpretace statistických dat MeSH
• lidé MeSH
• metabolický syndrom genetika   metabolismus   MeSH
• polymerázová řetězová reakce metody   využití   MeSH
• polymorfismus genetický genetika   imunologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• srovnávací studie MeSH

• MeSH
• diabetes mellitus 2. typu krev   MeSH
• dyslipidemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• lipidy * krev   MeSH
• metabolický syndrom MeSH
• polymerázová řetězová reakce MeSH
• polymorfismus genetický * MeSH
• senioři MeSH
• statistika jako téma MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH