Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Clin Genet. 2018 May;93(5):1069-1074. doi: 10.1111/cge.13193. Epub 2018 Mar 25.
Type 1 diabetes (T1D) is a common autoimmune disease and may be related to multiple genetic and environmental risk factors. Previous genetic studies have focused on looking for individual polymorphic risk variants. Here, we studied the overall levels of genetic diversity in T1D patients by making use of a previously published study including 1865 cases and 2828 reference samples with genotyping data for 500 K common single nucleotide polymorphisms (SNPs). We determined the minor allele (MA) status of each SNP in the reference samples and calculated the total number of MAs or minor allele contents (MAC) of each individual. We found the average MAC of cases to be greater than that of the reference samples. By focusing on MAs with strong linkage to cases, we further identified a set of 112 SNPs that could predict 19.19% of cases. These results suggest that overall genetic variation over a threshold level may be a risk factor in T1D and provide a new genetic method for predicting the disorder.
1 型糖尿病（T1D）是一种常见的自身免疫性疾病，可能与多种遗传和环境风险因素有关。先前的遗传研究主要集中在寻找个体多态性风险变异上。在这里，我们利用先前发表的一项研究，对 1865 例病例和 2828 例参考样本进行了基因分型数据为 500 K 的常见单核苷酸多态性（SNP）的研究，研究了 T1D 患者的总体遗传多样性水平。我们确定了参考样本中每个 SNP 的次要等位基因（MA）状态，并计算了每个个体的 MA 总数或次要等位基因含量（MAC）。我们发现病例的平均 MAC 大于参考样本。通过关注与病例有强连锁关系的 MAs，我们进一步确定了一组可预测 19.19%病例的 112 个 SNP。这些结果表明，超过阈值水平的总体遗传变异可能是 T1D 的一个风险因素，并为预测该疾病提供了一种新的遗传方法。
