作者: Peter Henneman
DOI:
关键词: Heritability 、 Single-nucleotide polymorphism 、 Adipokine 、 Genetic correlation 、 Candidate gene 、 Genetics 、 Metabolic syndrome 、 Biology 、 Genetics of obesity 、 Adiponectin
摘要: In this thesis several aspects of metabolic syndrome are addressed. The focus involves questions concerning the genetics obesity, TG and cholesterol hyperglycemia. Since we hypothesized that obesity is most important trigger impairment, MetS definition in was chosen to include measure waist circumference as an essential component. In study described chapter 2, heritability addressed compared its individual components. components were shown be more heritable than itself, studies 3 4 focused on component plasma TG. For purpose, a candidate gene approach employed using HTG patients healthy controls. involvement series genes confirmed. 5 followed similar used 4. Several studied suffering from hyperlipoproteinemia (HLP) type III, which characterized by elevated levels total HLP III APOE2 homozygosity. Contributing genetic factors (metabolically stressed) APOE2/2 environment confirmed. Plasma adiponectin, adipose tissue secreted hormone (adipokine), has been suggested biomarker for MetS. 6 describe particularly aimed determine effect menopause discriminating accuracy adiponectin predict Especially low postmenopausal women found risk However, presence exceeded BMI men pre –and post menopausal women. very well correlated with or related traits, 7 question whether these correlations caused overlap (genetic correlation). correlation mono-laterally validated regard (ADIPOQ). Chapter 8 describes towards finding novel loci associated possibly involved between traits. This genome-wide association (GWA) approach. results GWA joined analysis two other cohorts meta-analysis. addition, selected proportion SNPs submitted replication cohorts. 9 provides general discussion reviewing all previous chapters thesis. Furthermore, includes suggestions proposals future analyses unraveling environmental expression manifestation factors.