MACF1 gene variant rs2296172 is associated with T2D susceptibility in Mizo population from Northeast India.

Aim: Microtubule actin cross-linking factor 1 (MACF1) has been identified as a type 2 diabetes (T2D) candidate gene, and variant rs2296172 of the gene was found associated with T2D in multiple populations. However, it has never been explored in Mizo population. The aim of the present study was to replicate the association of variant rs2296172 of MACF1 gene with T2D in Mizo population of Northeast India. Methodology: The variation was genotyped using TaqMan allele discrimination assay in 755 individuals (425 cases and 330 healthy controls), belonging to the Mizo population. Results: The variant rs2296172 MACF1 was found to be significantly associated with T2D (p value = 0.001) in Mizo population group with an observed odds ratio of 1.8 [1.3–2.8] at 95% CI after correction with age, gender and BMI. Conclusion: This study is the first replication report from Northeast India, showing variant rs2296172 of MACF1 gene associated with T2D in Mizo population. This independent study highlights MACF1 as a candidate gene for T2D in Asian Indian populations, suggesting it is critical to evaluate the variant rs2296172 in other distinct endogamous Indian population cohorts. [ABSTRACT FROM AUTHOR]