European Journal of Cardiovascular Medicine

Introduction: Among the different ethnic groups in India, diabetes prevalence varies. Microtubule actin cross-linking factor 1 (MACF1) variant rs2296172 has been identified as a type 2 diabetes candidate gene and was found to be associated with T2D in multiple populations. Aim: To study the clinical-biochemical profiles and the mutation in MACF-1 gene variant rs2296172 and their association with type 2 diabetes in Bhargava population.  Methodology: Hospital based cross sectional study was conducted in the Department of Medicine, S.P. Medical College & AGH, Bikaner.144 individuals (34 previously diagnosed type 2 diabetic and 30 non diabetic from Bhargava community and 40 type 2 diabetic and 40 non diabetic from non Bhargava community) were included in the study and evaluated for demography and laboratory investigations. Genetic analysis of these sample for MACF 1 rs2296172 variant gene polymorphism with known primer sequence was done by PCR amplification method at Multi-Disciplinary Research Unit (MDRU) of S.P. Medical College, Bikaner. Results: In our study we found that in diabetic Bhargava (db), non diabetic Bhargava (ndb), diabetic non Bhargava (dnb) and non diabetic non Bhargava (ndnb) respectively mean systolic blood pressure(135.47,117.20,127.00,117.60); mean BMI (27.70,25.16,27.91,22.59); mean waist hip ratio (.96,.93,.96,.87); mean crp (9.42,2.84,4.09,3.14) ;mean HDL (46.72,52.50,51.66,55.02) ; mean LDL (109.47,91.06,69.24,68.66) ;mean cholesterol (186.53,181.67,157.50,148.00).we also found MACF-1 gene rs2296172 SNPs proportion in db,ndb,dnb,ndnb study group respectively is 23.53%,13.33%,17.5%,10%. These result suggest possible role of metabolic,inflammatory and genetic factors in the prevalence of type 2 diabetes mellitus in Bhargava community. Conclusion: Our results and results from other independent cohort studies indicate that Type 2 diabetes mellitus in Bhargava community is more prevalent among elderly respondents and is associated with high socioeconomic status, obesity, dyslipidemia and elevated levels of CRP.MACF-1 rs2296172 variant gene need to be further evaluated in Indian population, so that it can be attributed as a common biomarker of type 2 diabetes mellitus in Indian population.