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Association analysis of HHEX gene variant with type 2 diabetes risk



Type 2 diabetes mellitus (T2DM) is a common, chronic, and complex disorder that is influenced by interactions between genetic and environmental factors. The hematopoietically expressed homeobox (HHEX) gene, which affects insulin sensitivity and secretion, is a candidate gene for the pathogenesis of T2DM.


The purpose of this study was to investigate the effect of the HHEX genetic variant, rs1111875, on the T2DM risk in a group of Iranian patients for the first time.


A total of 108 T2DM patients and 100 normal subjects were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).


There was significant difference in genotypes and alleles frequency of rs1111875 between both case and control groups (p < 0.001). The frequency of the G allele was significantly higher in cases (87.5%) compared with controls (27%) (OR = 18.92, CI = 11.06–32.69, p < 0.001).


Our findings suggest that the rs1111875 variant of the HHEX gene could be considered a strong risk factor for T2DM development.

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Fig. 1

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The researchers would like to express their gratitude to all participants enrolled in this project.

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Authors and Affiliations



MH managed the project and provided guidance to the research; PB and NS drafted the manuscript and performed lab genotyping; MA performed the statistical analysis; HRAM provided clinical guidance to the research.

All authors contributed to and approved the final version of the manuscript.

Corresponding authors

Correspondence to Hamid Reza Aghaei Meybodi or Mandana Hasanzad.

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Ethical approval and consent to participate

This study was approved by Ethical committee (ID research ethics: IR.IAU.PS.REC.1398.031) and informed consent was obtained from all individual participants included in the study.

Competing interests

The authors declare that they have no conflict of interest.

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Banihashemi, P., Aghaei Meybodi, H.R., Afshari, M. et al. Association analysis of HHEX gene variant with type 2 diabetes risk. Int J Diabetes Dev Ctries 41, 43–47 (2021).

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  • HHEX
  • rs1111875
  • T2DM
  • Genetic variant