Pediatric Endocrinology Service, Hospital Universitário Professor Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Bahia, Brazil.
Ethn Dis. 2009 Autumn;19(4):420-4.
Several studies have demonstrated a fundamental role for the histocompatibility antigens (ie, human leukocyte antigens or HLA) in the susceptibility of, or protection to, type 1 diabetes mellitus (T1DM). However, this has not been adequately studied in racially admixtured populations.
To assess the frequency of HLA class II (DQA1, DQB1 and DRB1) associated to susceptibility or protection toT1DM in a Brazilian racially admixtured with diabetes.
Cross-sectional study. The HLA genotyping was performed by a polymerase chain reaction hybridization assay. The racial groups were categorized by self-report and phenotype. The results are expressed as means and standard deviations of the mean, proportions and frequencies. The chi2 and Fisher exact tests were used for the inferential statistics.
The study population comprised 55 children and adolescents with T1DM. The phenotypic racial group classification demonstrated that, 60% were Mulattoes, 25.5% Whites, 12.7% Blacks and 1.8% from Indian ancestry. The T1DM's susceptibility was associated with an increased frequency of the HLA of risk (-DRB10401, -DRB10402, DQA103, -DQA105, -DQB102 e -DQB10302); and a small frequency of protective alleles (-DRB10404, -DRB10407, -DQA10201, -DQB10602, -DQB0603 e -DQB10604) in all subjects. We found a greater frequency of the HLA-DRB1*0302 among Whites when compared to Blacks.
This study demonstrates that the frequency and distribution of the susceptibility and protective HLA alleles were similar to studies performed in the Brazilian Southeast and in North Americans and European Caucasians, suggesting that the genetic basis of T1DM has a common origin being little modified by racial characteristics.
多项研究表明组织相容性抗原(即人类白细胞抗原或 HLA)在 1 型糖尿病(T1DM)易感性或保护中起着重要作用。然而,在多种族混合人群中,这一点尚未得到充分研究。
评估 HLA Ⅱ类(DQA1、DQB1 和 DRB1)与巴西多种族混合人群中 T1DM 易感性或保护相关的频率。
横断面研究。采用聚合酶链反应杂交法进行 HLA 基因分型。种族群体通过自我报告和表型进行分类。结果表示为平均值和平均值的标准差、比例和频率。采用卡方检验和 Fisher 确切概率法进行推断统计学分析。
本研究人群包括 55 名 1 型糖尿病患儿和青少年。表型种族群体分类显示,60%为黑白混血儿,25.5%为白人,12.7%为黑人,1.8%为印第安人后裔。T1DM 的易感性与风险 HLA 的频率增加有关(-DRB10401、-DRB10402、DQA103、-DQA105、-DQB102 和 -DQB10302);所有受试者保护性等位基因的频率较低(-DRB10404、-DRB10407、-DQA10201、-DQB10602、-DQB0603 和 -DQB10604)。与黑人相比,我们发现白人 HLA-DRB1*0302 的频率更高。
本研究表明,易感性和保护性 HLA 等位基因的频率和分布与在巴西东南部以及北美和欧洲白种人中进行的研究相似,提示 T1DM 的遗传基础具有共同的起源,受种族特征的影响较小。