Association of variants in PTPN22, CTLA-4, IL2-RA, and INS genes with type 1 diabetes in Emiratis

Charu Sharma, Bassam R. Ali, Wael Osman, Bachar Afandi, Elhadi H. Aburawi, Salem A. Beshyah, Zeina Al-Mahayri, Rami H. Al-Rifai, Zain Al Yafei, Gehad ElGhazali, Juma Alkaabi

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9 Scopus citations


Type 1 diabetes (T1D) is a chronic autoimmune disease with a complex interrelation of genetic and environmental factors. Genetic studies have reported HLA and non-HLA loci as significant contributors to T1D. However, the genetic basis of T1D among Emiratis is unexplored. This study aims to determine the contribution of four genes PTPN22, CTLA-4, IL2-RA, and INS to T1D risk among Emiratis. The association between variants in PTPN22 (rs2476601, rs1310182), CTLA-4 (rs11571316, rs231775, rs3087243, rs1427676, and rs231727), IL2-RA (rs7090530), and INS (rs7111341) with T1D was tested in 310 Emiratis (139 T1D patients and 171 controls). A significant association was found at rs1310182, and rs2476601 both in PTPN22, rs3087243, and rs231775 both in CTLA-4, and rs12251307 in IL2-RA. Moreover, a haplotype constituted from GG and AG genotypes at rs231727 and rs231775, respectively, in CTLA-4 was significantly associated with an increased T1D risk. The cumulative effects of risk alleles for all significantly associated SNPs showed 11.8 higher relative risk for T1D for those who carry 5–6 compared to 0–1 risk alleles. This study illustrated that PTPN22, CTLA-4, and IL2-RA gene variants could confer risk alleles for T1D among the Emirati population.

Original languageBritish English
Pages (from-to)48-57
Number of pages10
JournalAnnals of Human Genetics
Issue number2
StatePublished - Mar 2021


  • CTLA-4
  • Emirati
  • genetic polymorphism
  • IL2-RA
  • INS
  • PTPN22
  • type 1 diabetes


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