Diaz-Horta Oscar, Cintado Alberto, Fernandez-De-Cossio Maria Elena, Nazabal Marcelo, Ferrer Annia, Roca Juan, Camacho Hamlet, Benítez Jesus, Ale Mayte, Villarreal Adelaida, Molina Gisela, Vera Manuel, Cabrera-Rode Eduardo, Novoa Lidia
Departamento de Inmunologia y Genetica de la Diabetes, Instituto Nacional de Endocrinología, Zapata y D, Havana, Cuba.
Ann Hum Biol. 2010 Nov;37(6):778-88. doi: 10.3109/03014461003766984. Epub 2010 Jun 22.
Incidence of type 1 diabetes varies widely around the world, probably due to ethnic differences across populations among other factors.
To determine whether there is an association between disease and ancestry proportions; and to control disease-HLA associations for possible confounding by admixture or population stratification.
100 cases and 129 controls participated in the study. Ancestry informative markers, which have considerable differences in frequency between European, West African and Native American populations were used. Type 1 diabetes associated HLA susceptibility/protection alleles were ascertained by PCR using specific primers. Statistical analyses were conducted using STRUCTURE 2.1, ADMIXMAP 3.7, SPSS 16.0 and STRAT 1.0 packages.
The results of logistic regression implemented in ADMIXMAP 3.7 indicated that European ancestry was associated with type 1 diabetes mellitus with an odds ratio of 5.7 corresponding to one unit change in European admixture proportion. Association was found between HLA alleles and disease, DQA10501, 0301 DQB10201 and DRB10301, 0401 being susceptibility alleles and DRB11501, DQA10102/3 and DQB10602 being protective alleles.
We found an association between European ancestry and type 1 diabetes in our sample, indicating the contribution of ethnicity to incidence differences. Previously reported associations of HLA DR/DQ alleles with disease are confirmed for the admixed Cuban population.
1型糖尿病的发病率在全球范围内差异很大，可能是由于人群间的种族差异等其他因素所致。
确定疾病与祖先比例之间是否存在关联；并控制疾病与HLA的关联，以排除可能因混合或人群分层导致的混杂因素。
100例病例和129例对照参与了本研究。使用了在欧洲、西非和美洲原住民人群中频率有显著差异的祖先信息标记。通过使用特异性引物的PCR确定1型糖尿病相关的HLA易感/保护等位基因。使用STRUCTURE 2.1、ADMIXMAP 3.7、SPSS 16.0和STRAT 1.0软件包进行统计分析。
ADMIXMAP 3.7中实施的逻辑回归结果表明，欧洲祖先与1型糖尿病相关，欧洲混合比例每变化一个单位，优势比为5.7。发现HLA等位基因与疾病之间存在关联，DQA10501、0301、DQB10201以及DRB10301、0401为易感等位基因，而DRB11501、DQA10102/3和DQB10602为保护等位基因。
我们在样本中发现欧洲祖先与1型糖尿病之间存在关联，这表明种族对发病率差异有影响。先前报道的HLA DR/DQ等位基因与疾病的关联在古巴混血人群中得到了证实。
