Department of Microbiology & Immunology, College of Science, Sultan Qaboos University, Muscat, Oman.
Department of Biology, College of Science, Sultan Qaboos University, Muscat, Oman.
Sultan Qaboos Univ Med J. 2023 Feb;23(1):68-75. doi: 10.18295/squmj.2.2022.016. Epub 2023 Feb 23.
Identification of the high risk alleles, genotypes and haplotypes of the human leukocyte antigens (HLA) in different populations is beneficial for understanding their roles in type 1 diabetes (T1D) pathogenesis and intervention practices. This study aimed to identify T1D-associated HLA gene alleles in the Omani population.
The present case-control study included 73 diabetic seropositive children (mean age 9.08 ± 3.27 years) attending the paediatric clinic at Sultan Qaboos University Hospital in Muscat, Oman, and 110 healthy controls. , , , and genes were genotyped using a sequence-specific primer polymerase chain reaction (SSP-PCR).
Two HLA class I alleles (, ) and three class II alleles (, and ) were associated with T1D susceptibility, while one class I () and three class II (, and ) alleles were associated with T1D protection. and alleles showed the strongest risk association among all alleles. Six residues (E, S, S, Y, V and K) were significantly associated with T1D susceptibility. Heterozygous genotypes, / and / were significantly associated with T1D susceptibility ( <0.0001, odds ratio [OR] = 63.21 and = 0.02, OR = 3.63, respectively). Furthermore, a significant combined action of - haplotype in T1D risk ( = 0.000176, OR = 15) and - haplotype in protection ( = 0.0312, OR = 0.48) was detected.
Known HLA class II gene alleles are associated with T1D in Omani children.
鉴定不同人群中人类白细胞抗原（HLA）的高危等位基因、基因型和单倍型，有利于了解其在 1 型糖尿病（T1D）发病机制和干预措施中的作用。本研究旨在鉴定阿曼人群中与 T1D 相关的 HLA 基因等位基因。
本病例对照研究纳入了 73 名在阿曼首都马斯喀特的苏丹卡布斯大学医院儿科诊所就诊的糖尿病阳性儿童（平均年龄 9.08±3.27 岁）和 110 名健康对照者。使用序列特异性引物聚合酶链反应（SSP-PCR）对 、 、 、 和 基因进行基因分型。
两个 HLA Ⅰ类等位基因（ 、 ）和三个Ⅱ类等位基因（ 、 、 ）与 T1D 易感性相关，而一个Ⅰ类（ ）和三个Ⅱ类（ 、 、 ）等位基因与 T1D 保护相关。 、 和 等位基因在所有等位基因中显示出最强的风险关联。6 个 （E、S、S、Y、V 和 K）残基与 T1D 易感性显著相关。杂合基因型 /和 /与 T1D 易感性显著相关（ <0.0001，优势比[OR]分别为 63.21 和 3.63）。此外，还检测到 -单倍型在 T1D 风险中的显著联合作用（ =0.000176，OR=15）和 -单倍型在保护中的显著联合作用（ =0.0312，OR=0.48）。
已知的 HLA Ⅱ类基因等位基因与阿曼儿童的 T1D 相关。
