Lack of association between UBE2E2 gene polymorphism (rs7612463) and type 2 diabetes mellitus in a Saudi population

The ubiquitin-conjugating enzyme E2E 2 (UBE2E2) gene plays an important role in insulin synthesis and secretion under conditions in which stress to the endoplasmic reticulum is increased in β-cells. In this case-control study, we have selected rs7612462 polymorphism within UBE2E2 gene to identify in a Saudi population the type 2 diabetes mellitus (T2DM) subjects. In total, 376 subjects with T2DM and 380 controls were enrolled in this study. We have collected 5 mL of peripheral blood from each participant for biochemical and molecular analyses. PCR-RFLP was used to generate genotypes at rs7612462 in all of the study subjects. Clinical data and anthropometric measurements of the patients were significantly different from those of the controls (p<0.05). All of the subjects used in this study were non-obese (25<BMI<30). None of the alleles or genotypes of rs7612462 were associated with T2DM (OR=1.251, 95% CI=0.7703-2.034; p=0.3641). Our data suggest that rs7612462 polymorphism in UBE2E2 does not contribute to T2DM susceptibility in the Saudi population

Association of JAZF1 and TSPAN8/LGR5 variants in relation to type 2 diabetes mellitus in a Saudi population

Background: Type 2 diabetes mellitus (T2DM) is a chronic and multifactorial disease with a rapidly rising incidence in Saudi Arabia. Various genes including zinc finger protein 1 (JAZF1) and tetraspanin 8/leucine‑rich repeat‑containing G protein‑coupled receptor (TSPAN8/LGR5) have been previously described to be associated with T2DM. This study investigated the association of JAZF1 (rs864745) and TSPAN8 (rs7961581) with T2DM in a Saudi population. Methods: Genomic DNA samples from 400 Saudi T2DM patients and 400 healthy controls were genotyped and ana‑ lyzed using a polymerase chain reaction‑restriction fragment length polymorphism method. The difference between the genotype frequencies were carried out with Chi‑square test. Odds ratio, 95 % confidence intervals and p values were calculated using multinomial logistic regression. Dominant and recessive models were implemented to show the statistical significances. Analysis of variance was used to compare differences between genotypes for the various parameters. Results: Distribution frequencies of the AA, AG, and GG genotypes of JAZF1 (rs864745) differed significantly among T2DM patients and healthy controls (p &lt; 0.05). The AG and GG genotypes were independently and significantly associated with a T2DM risk after adjusting for factors such as age, sex, and body mass index [odds ratio (OR) 2.1 (95 % confidence interval (CI) 1.3–3.4); p = 0.002] and [OR 1.9 (95 % CI 1.2–3.1); p = 0.005], respectively. A genotype