McCarthy Bridget J, Lipton Rebecca, Nichol Lynn
Division of Epidemiology and Biostatistics, University of Illinois at Chicago, School of Public Health, USA.
J Pediatr Endocrinol Metab. 2004 Mar;17(3):297-306. doi: 10.1515/jpem.2004.17.3.297.
Few studies have described the genetics of childhood diabetes mellitus (DM) in US minorities. High-risk DQA1 and DQB1 alleles (DQA10301, DQB10201, and DQB10302 in African Americans and Latinos, and DQA1 0501 in African Americans) were identified from previous studies and tested in 45 African American and 26 Latino patients from the population-based Chicago Childhood Diabetes Registry, and in 50 healthy race-matched controls. Sixteen of the African American patients and three Latinos had youth-onset type 2 DM and were analyzed separately. In African Americans with type 1 DM, both DQA10102 and DQB10602 were protective (p < 0.0001), and the susceptibility alleles DQA10301 and DQB10201 were more frequent than in controls (p < 0.01). In Latinos, DQA10301 and DQB10302 were marginally increased in patients with DM1 compared to controls; no individual DQA1 or DQB1 allele was protective. Patients with DM1 were significantly more likely to carry one or two high-risk DQA1 alleles in both populations; they were also more likely than controls to carry at least one high-risk DQB1 allele. The odds ratio for the ability to form at least two high-risk DQA1-DQB1 heterodimers (cis and/or trans) was 7.9 (95% CI: 1.7-40.0) for African Americans and 5.7 (1.3-25.6) for Latinos with DM1. African American patients with DM2 were not statistically different from controls, and were less likely to carry four high-risk susceptibility alleles than patients with DM1 (p = 0.002). Many of the HLA-DQ associations previously documented in non-Hispanic White populations also are found in African Americans and Latinos with DM1, although some differences exist.
很少有研究描述美国少数族裔儿童糖尿病(DM)的遗传学情况。从先前的研究中确定了高风险的DQA1和DQB1等位基因(非裔美国人和拉丁裔中的DQA10301、DQB10201和DQB10302,以及非裔美国人中的DQA10501),并在来自基于人群的芝加哥儿童糖尿病登记处的45名非裔美国患者和26名拉丁裔患者以及50名种族匹配的健康对照中进行了检测。16名非裔美国患者和3名拉丁裔患者患有青少年发病型2型糖尿病,并分别进行了分析。在1型糖尿病的非裔美国人中,DQA10102和DQB10602均具有保护作用(p<0.0001),并且易感等位基因DQA10301和DQB10201比对照组更常见(p<0.01)。在拉丁裔中,与对照组相比,1型糖尿病患者中DQA10301和DQB10302略有增加;没有单个DQA1或DQB1等位基因具有保护作用。在这两个人群中,1型糖尿病患者携带一个或两个高风险DQA1等位基因的可能性显著更高;他们携带至少一个高风险DQB1等位基因的可能性也比对照组更高。对于1型糖尿病的非裔美国人,形成至少两个高风险DQA1-DQB1异二聚体(顺式和/或反式)的比值比为7.9(95%CI:1.7-40.0),对于拉丁裔为5.7(1.3-25.6)。2型糖尿病的非裔美国患者与对照组在统计学上无差异,并且携带四个高风险易感等位基因的可能性低于1型糖尿病患者(p=0.002)。先前在非西班牙裔白人人群中记录的许多HLA-DQ关联在患有1型糖尿病的非裔美国人和拉丁裔中也有发现,尽管存在一些差异。