Tay Guan K, Al Naqbi Halima, Mawart Aurélie, Baalfaqih Zahrah, Almaazmi Anoud, Deeb Asma, Alsafar Habiba
Center for Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.
College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.
Front Genet. 2021 Jun 30;12:670844. doi: 10.3389/fgene.2021.670844. eCollection 2021.
The classical Human Leucocyte Antigen (HLA) class II haplotypes of the Major Histocompatibility Complex (MHC) that are associated with type 1 diabetes (T1D) were identified in five families from the United Arab Emirates (UAE). Segregation analyses were performed on these 5 families with the disease, 3 with one child and 2 with 2 children diagnosed with T1D. Three HLA-DR4 haplotypes were identified: HLA- DRB104:01:01-DQB103:02:01:01; HLA- DRB104:02:01- DQB103:02:01; and HLA -DRB104:05:01-DQB102:02:01:02. All have previously been identified to be associated with T1D in studies of the Arabian population. In the 10 parents from the 5 families, 9 had at least one HLA-DR4 and HLA-DR3 haplotype which potentially increases the risk of T1D. Of these 9 parents, 3 were heterozygous for HLA-DR4/HLA-DR3 and one was homozygous for HLA-DR3. Two haplotypes that were identified here extend to the HLA class I region were previously designated AH8.2 (HLA -A26-B08-DRB103) and AH50.2 (HLA -C06-B50-DRB103:01-DQ02) and associated with diabetes in neighboring North Indian populations. This study provides examples of MHC haplotype analysis in pedigrees to improve our understanding of the genetics of T1D in the understudied population of the UAE.
在来自阿拉伯联合酋长国（UAE）的五个家庭中，鉴定出了与1型糖尿病（T1D）相关的主要组织相容性复合体（MHC）的经典人类白细胞抗原（HLA）II类单倍型。对这5个患病家庭进行了分离分析，其中3个家庭有1名患T1D的儿童，2个家庭有2名患T1D的儿童。鉴定出三种HLA - DR4单倍型：HLA - DRB104:01:01 - DQB103:02:01:01；HLA - DRB104:02:01 - DQB103:02:01；以及HLA - DRB104:05:01 - DQB102:02:01:02。在阿拉伯人群的研究中，所有这些单倍型此前均已被鉴定为与T1D相关。在这5个家庭的10名父母中，9人至少有一个HLA - DR4和HLA - DR3单倍型，这可能会增加患T1D的风险。在这9名父母中，3人为HLA - DR4/HLA - DR3杂合子，1人为HLA - DR3纯合子。此处鉴定出的两种延伸至HLA I类区域的单倍型，此前被命名为AH8.2（HLA - A26 - B08 - DRB103）和AH50.2（HLA - C06 - B50 - DRB103:01 - DQ02），并与邻近的北印度人群中的糖尿病相关。这项研究提供了家系中MHC单倍型分析的实例，以增进我们对阿联酋研究较少人群中T1D遗传学的理解。
