title: Trp homozygotes at codon 64 of ADRB3 gene are protected against the risk of type 2 diabetes in the Kashmiri population.
abstract: The prevalence of type 2 diabetes mellitus has reached epidemic proportions worldwide. Type 2 diabetes is a consequence of complex interactions among multiple genetic variants and environmental risk factors. Polymorphisms in various candidate genes confer susceptibility to diabetes. This study was undertaken to analyse a single nucleotide polymorphism Trp64Arg (C↔T) in the ADRB3 gene and elucidate its effects on type 2 diabetes and its associated risk factors. The study included 200 type 2 diabetes patients and 300 age and gender matched healthy controls belonging to the ethnic Kashmiri population. Polymerase chain reaction-restriction fragment length polymorphism technique was used for genotyping and the results were validated by direct sequencing assay. Genotypes for Trp64Arg polymorphism were in Hardy-Weinberg equilibrium (χ(2)=0.48, p=NS). Frequency of the Arg64 allele was 40% and 10.2% in cases and controls, respectively (p<0.05; odds ratio 5.89; 95% CI; 3.69-9.39). The Arg64 allele was directly related to higher body mass index, waist-to-hip ratio, dyslipidemia and uncontrolled disease status. The study signifies that the Arg64 allele of the ADRB3 gene is a genotypic risk factor and confers susceptibility to type 2 diabetes, whereas the homozygous Trp64 genotype exerted a protective effect in our population.
authors: 1 Department of Biochemistry, University of Kashmir , Srinagar, India .
authors: Iqra
authors: I
authors: Hameed
authors: Shariq R
authors: SR
authors: Masoodi
authors: Dil
authors: D
authors: Afroze
authors: Niyaz A
authors: NA
authors: Naykoo
authors: Riyaz A
authors: RA
authors: Bhat
authors: Bashir A
authors: BA
authors: Ganai
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D015992:Body Mass Index; D016022:Case-Control Studies; D003062:Codon / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D050171:Dyslipidemias / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D022702:Receptors, Adrenergic, beta-3 / Q000235:genetics*; D012307:Risk Factors
chemical_list: C568534:ADRB3 protein, human; D003062:Codon; D022702:Receptors, Adrenergic, beta-3