BACKGROUND AND AIMS: The metabolic syndrome is a multifactorial disorder, and the urban Indian population is at high risk for diabetes mellitus and cardiovascular disorders, with numbers consistently rising. Hence, we aim to scrutinize the frequent mutations, predominantly single-nucleotide polymorphisms (SNPs), of complex disorders like Bardet-Biedl syndrome (BBS).
METHOD AND DESIGN: A greater knowledge of the metabolic syndrome is needed to determine the inheritability of complex disorders. Multiple genome-wide association studies with case-control, meta-analysis, haplotype, and genotype analysis and investigations on mutation screening in obese, metabolic syndrome, and BBS subjects demonstrated that including disease-associated polymorphisms (or) SNPs (or) common mutations might suffice as an efficacious tool in disease prognostication. In a wide range of populations, mutational profiling and analysis of BBS genes revealed that certain disease-correlated SNPs of these genes were linked to metabolic syndrome. Hence, we have inspected multiple research and review articles about genetic mutations, particularly SNPs in the BBS genes and their association with metabolic syndrome.
RESULTS : The two reported SNPs, rs1545 and rs1547, which are present in the exonic region of the BBS6/MKKS gene, have been integrated to be related to obesity and metabolic syndrome in a substantially diverse population.
CONCLUSION : The roles of the varied genotypes observed in Bardet-Biedl syndrome and diabetic retinopathy, which falls under metabolic syndrome, are much needed to understand their interconnection and etiology. The recurrent SNPs rs1545 and rs1547 of the BBS6/MKKS gene might perform as a candidate diagnostic tool to envisage obesity.