Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Mar;85(2):48-57.
doi: 10.1111/ahg.12406. Epub 2020 Sep 24.

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

Charu Sharma  1 , Bassam R Ali  2   3 , Wael Osman  4 , Bachar Afandi  5 , Elhadi H Aburawi  6 , Salem A Beshyah  7 , Zeina Al-Mahayri  3 , Rami H Al-Rifai  8 , Zain Al Yafei  9 , Gehad ElGhazali  9 , Juma Alkaabi  1
Affiliations

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

Charu Sharma et al. Ann Hum Genet. 2021 Mar.

Abstract

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.

Keywords: CTLA-4; Emirati; IL2-RA; INS; PTPN22; genetic polymorphism; type 1 diabetes.

PubMed Disclaimer

References

REFERENCES

    1. Abdelrahman, H. M., Sherief, L. M., Abd Elrahman, D. M., Alghobashy, A., Elsaadani, H. F., & Mohamed, R. H. (2016). The association of PTPN22 (rs2476601) and IL2-RA (rs11594656) polymorphisms with T1D in Egyptian children. Human Immunology, 77(8), 682-686. https://doi.org/10.1016/j.humimm.2016.06.006
    1. Ahmadi, S., Rostamzadeh, J., Khosravi, D., Shariati, P., & Shakiba, N. (2013). Association of CTLA-4 gene 49A/G polymorphism with the incidence of type 1 diabetes mellitus in the Iranian Kurdish population. Pakistan Journal of Biological Sciences: PJBS, 16(24), 1929-1935. https://doi.org/10.3923/pjbs.2013.1929.1935
    1. Alcina, A., Fedetz, M., Ndagire, D., Fernández, O., Leyva, L., Guerrero, M., … Matesanz, F. (2009). IL2-RA/CD25 gene polymorphisms: Uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D). PloS One, 4(1), e4137. https://doi.org/10.1371/journal.pone.0004137
    1. Al-Gazali, L. I., Bener, A., Abdulrazzaq, Y. M., Micallef, R., al-Khayat, A. I., & Gaber, T. (1997). Consanguineous marriages in the United Arab Emirates. Journal of Biosocial Science, 29(4), 491-497. https://doi.org/10.1017/s0021932097004914
    1. Al-Jenaidi, F. A., Wakim-Ghorayeb, S. F., Al-Abbasi, A., Arekat, M. R., Irani-Hakime, N., Najm, P., … Almawi, W. Y. (2005). Contribution of selective HLA-DRB1/DQB1 alleles and haplotypes to the genetic susceptibility of type 1 diabetes among Lebanese and Bahraini Arabs. The Journal of Clinical Endocrinology & Metabolism, 90(9), 5104-5109.

MeSH terms