TY - JOUR
T1 - Association of variants in PTPN22, CTLA-4, IL2-RA, and INS genes with type 1 diabetes in Emiratis
AU - Sharma, Charu
AU - R. Ali, Bassam
AU - Osman, Wael
AU - Afandi, Bachar
AU - Aburawi, Elhadi H.
AU - Beshyah, Salem A.
AU - Al-Mahayri, Zeina
AU - Al-Rifai, Rami H.
AU - Al Yafei, Zain
AU - ElGhazali, Gehad
AU - Alkaabi, Juma
N1 - Publisher Copyright:
© 2020 John Wiley & Sons Ltd/University College London
PY - 2021/3
Y1 - 2021/3
N2 - 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.
AB - 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.
KW - CTLA-4
KW - Emirati
KW - IL2-RA
KW - INS
KW - PTPN22
KW - genetic polymorphism
KW - type 1 diabetes
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U2 - 10.1111/ahg.12406
DO - 10.1111/ahg.12406
M3 - Article
C2 - 32970831
AN - SCOPUS:85091357047
SN - 0003-4800
VL - 85
SP - 48
EP - 57
JO - Annals of Human Genetics
JF - Annals of Human Genetics
IS - 2
ER -