Al-Jenaidi Fayza A, Wakim-Ghorayeb Saria F, Al-Abbasi Abduljabbar, Arekat Mona R, Irani-Hakime Noha, Najm Pierre, Al-Ola Khadija, Motala Ayesha A, Almawi Wassim Y
Al-Jawhara Center for Molecular Medicine, Genetics, and Inherited Diseases, College of Medicine and Medical Sciences, Arabian Gulf University, P.O. Box 22979, Manama, Bahrain.
J Clin Endocrinol Metab. 2005 Sep;90(9):5104-9. doi: 10.1210/jc.2005-1166. Epub 2005 Jun 28.
Human leukocyte antigen (HLA) class II genes contribute to the genetic susceptibility of type 1 diabetes (T1D), and both susceptible and protective alleles were implicated with its pathogenesis, which varies among various ethnic/racial groups.
This study investigated the heterogeneity in HLA class II haplotypes distribution among Bahraini and Lebanese T1D patients.
This was a cross-sectional retrospective study.
The study was conducted at primary care private and public health centers.
Subjects comprised 126 T1D patients and 126 healthy controls from Bahrain and 78 Lebanese T1D patients and 111 control subjects.
INTERVENTION(S): There were no interventions.
Although Lebanese and Bahraini patients share DRB1030101, DQB10201 as susceptible and DRB1100101 and DQB1030101 as protective alleles, DRB1040101 was an additional susceptible allele in Bahraini patients, and DRB1130701 and DQB1050101 were additional susceptible and protective alleles in Lebanese, respectively. DRB1030101-DQB10201 was susceptible, whereas DRB1070101-DQB10201 and DRB1110101-DQB1030101 were protective haplotypes in Bahraini and Lebanese. DRB1040101-DQB10302 and DRB1040101-DQB1050101 displayed different associations: they were protective in Lebanese but susceptible or neutral among Bahrainis. Whereas the frequency of homozygous DRB103011-DQB10201 was higher in Bahraini and to a lesser extent Lebanese patients, homozygous DRB1110101-DQB1030101 was significantly more frequent in Lebanese but not Bahraini controls, whereas DRB1030101-DQB10201/DRB1040101-DQB1*0201 was the major genotype among Bahraini patients but not Lebanese subjects in whom it was present at very low frequencies.
In view of these differences between Bahraini and Lebanese, this demonstrates that the contribution of HLA class II to the genetic susceptibility to T1D must be evaluated with regard to specific HLA haplotypes and also ethnic origin and racial background.
人类白细胞抗原(HLA)II类基因促成了1型糖尿病(T1D)的遗传易感性,易感和保护性等位基因均涉及其发病机制,而发病机制在不同种族/民族群体中存在差异。
本研究调查了巴林和黎巴嫩T1D患者中HLA II类单倍型分布的异质性。
这是一项横断面回顾性研究。
研究在初级保健私人和公共卫生中心进行。
受试者包括来自巴林的126例T1D患者和126例健康对照,以及来自黎巴嫩的78例T1D患者和111例对照受试者。
无干预措施。
尽管黎巴嫩和巴林患者均共享DRB1030101、DQB10201作为易感等位基因,以及DRB1100101和DQB1030101作为保护性等位基因,但DRB1040101是巴林患者中额外的易感等位基因,而DRB1130701和DQB1050101分别是黎巴嫩患者中额外的易感和保护性等位基因。DRB1030101-DQB10201是易感单倍型,而DRB1070101-DQB10201和DRB1110101-DQB1030101在巴林和黎巴嫩患者中是保护性单倍型。DRB1040101-DQB10302和DRB1040101-DQB1050101表现出不同的关联:它们在黎巴嫩患者中是保护性的,但在巴林患者中是易感或中性的。虽然纯合子DRB103011-DQB10201在巴林患者中频率较高且在黎巴嫩患者中有一定程度的频率,纯合子DRB1110101-DQB1030101在黎巴嫩对照中显著更常见,但在巴林对照中并非如此,而DRB1030101-DQB10201/DRB1040101-DQB1*0201是巴林患者中的主要基因型,但在黎巴嫩受试者中频率极低。
鉴于巴林和黎巴嫩之间的这些差异,这表明必须根据特定的HLA单倍型以及种族起源和种族背景来评估HLA II类对T1D遗传易感性的贡献。