Abstract
Cardiometabolic diseases (CMD) are responsible for high morbidity and mortality. There are many risk factors playing role in the development of CMD.
The change of fatty acid profile is involved and lipogenic enzymes take part. Lipogenic enzymes, stearoyl-coenzyme A-desaturase (SCD-1), delta-5 desaturase and delta-6 desaturase, are related to risk factors and to CMD (metabolic syndrome and type 2 diabetes mellitus).
Estimated activity of these enzymes is influenced by the single-nucleotide polymorphism (SNP) of their genes (SCD-1, FADS1. FADS2. respectively) with consequences for the development of CMD.
We tried to analyze associations between SNPs of these genes and particular anthropometric and laboratory parametres. The study population consisted of 555 subjects with average age of 49,7.
Subjects were divided into three groups: 87 healthy subjects, 193 patients with metabolic syndrom and 275 subjects with at least one risk factor but without metabolic disease. We demonstrated no significant association between SNPs of FADS1 and risk factors.
We proved significant correlations of some SNPs of FADS2 and SCD-1 genes with examinated anthropometric (e.g. BMI) and laboratory parametres (e.g.
LDL-C concentration, uric acid level, insulinaemia). Results of our pilot study are in concordance with previous studies but there is still need to continue our studies.