Perilipin Gene Polymorphism and Diabetes Risk in Obese Women

ABSTRACT

Purpose: The aim of the study was to investigate the relationship between perilipin gene polymorphisms and diabetes mellitus (DM) type 2 in obese women.
Material and Method: The study population included 21 obese women with type 2 DM, 10 obese women without diabetes. All the coding exons of PLIN gene were amplified by polymerase chain reaction (PCR). Insulin resistance was estimated using the homeostasis model assessment (HOMA).
Results: In obese with type 2 DM, 20 (95.3%) patients were homozygous and 1 (4.7%) was heterozygous for the c.580C>.G (p.Pro194Ala) (rs.6496589) mutations at exon 5 (p= 1.00). As for exon 8, 8 (38.0%) were heterozygous for the c.1113T>C (Pro371Pro) (rs2304796) mutation, and 4 (19.0%) were heterozygous for the c.1113T>C and c.1119C>T (p.Val373Val) (rs2304795) mutations, 6 (28.5%) were homozygous for the c.1113T>C and c.1119C>T mutations and 1 (4.8%) were homozygous for the c.1113T>C mutation (p=0.20). In diabetic obese group, mean levels of HOMA-IR in patients with heterozygous for the c.580C>G mutation at exon 5 and patients with heterozygous for the c.1113T>C and c.1119C>T mutation and patiens with heterozygous for the c.1113T>C mutation at exon 8 were found to be 3.8±1.8 and 4.3±1.7 and 3.5±1.0, respectively.
Discussion: There are no evidences related to perilipin gene polymorphisms such as homozygous for the c.580C>G mutation at exon 5, homozygous for the c.1113T>C and c.1119C>T mutation, and heterozygous for the c.1113T>C at exon 8 associated with diabetes in obese women.