Recent animal studies have indicated that overexpression of the elongation of long-chain fatty acids family member 6 (Elovl6) gene can cause insulin resistance and β-cell dysfunction. These are the major factors involved in the development of type 2 diabetes mellitus (T2DM). To identify the relationship between single nucleotide polymorphisms (SNP) of ELOVL6 and T2DM pathogenesis, we conducted a case-control study of 610 Han Chinese individuals (328 newly diagnosed T2DM and 282 healthy subjects). Insulin resistance and islet first-phase secretion function were evaluated by assessment of insulin resistance in a homeostasis model (HOMA-IR) and an arginine stimulation test. Three SNPs of the ELOVL6 gene were genotyped with polymerase chain reaction-restriction fragment length polymorphism, with DNA sequencing used to confirm the results. Only genotypes TT and CT of the ELOVL6 SNP rs12504538 were detected in the samples. Genotype CC was not observed. The T2DM group had a higher frequency of the C allele and the CT genotype than the control group. Subjects with the CT genotype had higher HOMA-IR values than those with the TT genotype. In addition, no statistical significance was observed between the genotype and allele frequencies of the control and T2DM groups for SNPs rs17041272 and rs6824447. The study indicated that the ELOVL6 gene polymorphism rs12504538 is associated with an increased risk of T2DM, because it causes an increase in insulin resistance.

ABSTRACT. We investigated the relationship between a VEGF genetic polymorphism and B cell chronic lymphocytic leukemia (B-CLL). A total of 102 patients with B-CLL and 124 healthy subjects were included in this study. All individuals were typed for the rs10434 in the vascular endothelial growth factor (VEGF) gene using the TaqMan technique. We found that the A allele and the AA genotype of rs10434 were more frequent in B-CLL patients than in control subjects (0.54 vs 0.34; 27 vs 13%; respectively). VEGF alleles and genotypes segregated similarly in patients at different disease stages according to Rai classification. These results suggest a possible association between the VEGF polymorphism and high-risk B-CLL.