ABSTRACT
NEDD4L is a candidate gene for hypertension, both functionally and genetically. Recently, studies showed evidence for the association of NEDD4L with obesity, a key intermediate phenotype in hypertension. To further investigate the relationship between NEDD4L and body mass-related phenotypes, we genotyped three common variants (rs2288774, rs3865418 and rs4149601) in a population-based study of 892 unrelated Han Cantonese using the Sequenom MALDI-TOF-MS platform. Allele frequencies and genotype distribution were calculated in lean controls and overweight/obese cases and analyzed for association by the Chi-squared test and Logistic regression. Linear regression analysis was used to analyze the effect of individual genotypes on quantitative traits. Multivariate analyses demonstrated that the minor allele of rs4149601(A = 20.9%) was associated with a 2.60 kg, 2.78 cm and 0.97 kg/m2 decrease per allele copy in weight, waist and BMI, respectively. Carriers of this allele also had a significant lower risk of overweight/obesity (p < 0.0001, OR = 0.52, 95% CI: 0.37-0.74) as compared to non-carriers. However, no significant association between genotypes at rs2288774 and rs3865418 and covariate-adjusted overweight/obesity or any related phenotypes was observed. These results suggested that the functional variant of NEDD4L, rs4149601, may be associated with obesity and related phenotypes, and further genetic and functional studies are required to understand its role in the manifestation of obesity.
Subject(s)
Body Mass Index , Endosomal Sorting Complexes Required for Transport/genetics , Genetic Predisposition to Disease , Genotype , Obesity , Polymorphism, Genetic , Ubiquitin-Protein Ligases/genetics , China/ethnology , Humans , Male , Middle Aged , Nedd4 Ubiquitin Protein Ligases , Obesity/ethnology , Obesity/genetics , PhenotypeABSTRACT
OBJECTIVE: To investigate the association between a polymorphism (rs228648) of urotensin II (UT-II) gene and type 2 diabetes in pedigrees. METHODS: Patients and controls with/without familial history were enrolled in the same place. RESULTS: Carriers with AG or AA genotype from pedigrees had higher disease risk than those with GG genotype (OR=1.98, 95% CI:1.19-3.29,OR=2.46,95% CI:1.39-4.34), the frequency of A allele was higher in the patients from pedigrees than inner controls and patients who had no familial history (P=0.01). The frequency of A allele was higher in the inner controls than outer ones (P=0.001). The insulin resistance index, insulin sensitivity index and pancreatic secretion index of inner controls with AG genotype were higher than those with GG genotype (All P < 0.05). CONCLUSION: This polymorphism of UT-II gene might be a risk to type 2 diabetes, the insulin function of people from pedigrees is associated with the mutation.
