ACTA ENDOCRINOLOGICA (BUC)

Obesity involves both genetic and environmentl influences, but the mechanisms of the genetic effects are not well understood.\r\nObjective. The aims of the study were to investigate the frequency of perilipin gene polymorphism in order to identify the relationship between insulin resistance and gene polymorphism in obese women.\r\nSubjects and methods. Study population included 31 obese women and 10 women with normal weight as a control group. All of the entire coding exons of PLIN gene were amplified by polymerase chain reaction (PCR). Insulin resistance (IR) was estimated using the homeostasis model assessment (HOMA-IR).\r\nResults. In the obese group, 29 (93.6%) patients were homozygous and 1 patients (3.2%) was heterozygous for the c.580C>.G (p.Pro194A1a)(rs. 6496589) mutation and 1 patient (3.2%) was Pro194A1a. Homozygous. Val156Leu. Heterozygous mutation at exon 5 at PLIN gene (p=0.072). As for exon 8 at PLIN gene in obese group, 6 patients (19.3%) had heterozygous for the c.1113T>C (Pro371Pro) (rs2304796) mutation, and 12 patients (38.7%) had heterozygous for the c.1113T>C and c.1119C>T (p. Val373Val) (rs2304795) mutation, and 4 patients (12.9%) had homozygous for the c.113T>C and c.1119C>T mutatons (p=0.009). In obese patients with no nucleotide substitution at exon 8, mean levels of systolic and diastolic blood pressures were higher than those of obese subjects with gene polymorphism. However, there were no statistically significant differences for HOMA-IR levels between obese women with and without perilipin gene polymorphism.\r\nConclusions: Perilipin gene polymorphisms such as heterozygous and homozygous for the c.1113T>C and c. 1119C>T (rs2304795) at exon 8 were associated with obesity risk. However, no relationship was found between insulin resistance and polymorphisms of perilipin gene in obese women.