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

  • Freda Lalrohlui
  • Varun Sharma
  • Indu Sharma
  • Hemender Singh
  • Guneet Kour
  • Surbhi Sharma
  • Yuman
  • John Zohmingthanga
  • Vanlalhruaii
  • Ekta Rai
  • Vinod Singh
  • Nachimuthu Senthil KumarEmail author
  • Swarkar SharmaEmail author
Original Article



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.


The variation was genotyped using TaqMan allele discrimination assay in 755 individuals (425 cases and 330 healthy controls), belonging to the Mizo population.


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.


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.


Microtubule actin cross-linking factor 1 Type 2 diabetes Mizoram 



FL acknowledges DST-Inspire Fellowship for her Junior Research Fellowship. SS acknowledges grant from DST-SERB. VAS and INS acknowledge CSIR for senior research fellowship.

Authors’ contributions

NSK and SWS primarily planned the study and provided guidance throughout the study. FL and VAS prepared the manuscript. FL collected samples and, INS, SUS, GUK, YU, HS performed experimental work and JZ and VAN primarily provided the samples. VAS and IS performed statistical analyses. ER, VIS, NSK, SWS critically evaluated and compiled the study.

Funding information

The work was supported by the grant from DST-SERB, GoI grant (SB/YS/LS-91/2015) and DBT-Advanced Level State Biotech Hub, Mizoram University (BT/04/NE/ 2009 dt. 29.08.2014).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict(s) of interest.

Ethical approval

Ethical committee of Mizoram University, Aizawl, and Institutional Ethical Review Board (IERB) of Shri Mata Vaishno Devi University approved the study. The work has been approved by ethical standards of the responsible committee on human experiments (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008.

Statement of informed consent

Informed consent was obtained from all the individuals for being included in the study.

Supplementary material

13410_2019_788_MOESM1_ESM.doc (325 kb)
ESM 1 (DOC 325 kb)


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Copyright information

© Research Society for Study of Diabetes in India 2020

Authors and Affiliations

  1. 1.Department of BiotechnologyMizoram UniversityAizawlIndia
  2. 2.Human Genetics Research Group, School of BiotechnologyShri Mata Vaishno Devi UniversityKatraIndia
  3. 3.Department of PathologyCivil HospitalAizawlIndia
  4. 4.Department of MedicineMIMER and Associated State Referral HospitalAizawlIndia

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