Beloso Carolina, Souto Jorge, Fabregat Matias, Romanelli Gerardo, Javiel Gerardo, Mimbacas Adriana
Biodiversity and Genetics Department, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo 11600, Uruguay.
Cytogenetics Laboratory, Hematology and Transplant Service of Hematopoietic Progenitors, Maciel Hospital, ASSE, Montevideo 11600, Uruguay.
World J Diabetes. 2018 Sep 15;9(9):157-164. doi: 10.4239/wjd.v9.i9.157.
To investigate if mutations in are associated with "atypical diabetes" in the Uruguayan population.
Healthy, nondiabetic controls ( = 133) and patients with type 2 diabetes ( = 177) were selected from among the presenting population at level-3 referral healthcare centers in Uruguay. Patients with type 2 diabetes were subgrouped according to "atypical diabetes" ( = 92) and "classical diabetes" ( = 85). Genotyping for the rs12255372 and rs7903146 single nucleotide polymorphisms (SNPs) in the gene was carried out with Man probes. Random samples were sequenced by Macrogen Ltd. (South Korea). Statistical analysis of the SNP data was carried out with the SNPStats online tool (http://bioinfo.iconcologia.net/SNPstats). The best inheritance model was chosen according to the lowest values of Akaike's information criterion and Bayesian information criterion. Differences between groups were determined by unpaired -tests after checking the normal distribution or were converted to normalize the data. The association of SNPs was tested for matched case-control samples by using χ analysis and calculation of odds ratios (ORs) with 95% confidence intervals (CIs). All statistical tests were performed using SPSS v10.0 and EpiInfo7 statistical packages. Significant statistical differences were assumed in all cases showing adjusted < 0.05.
We genotyped two SNPs (rs7903146 and rs12255372) in a population-based sample of 310 Uruguayan subjects, including 133 healthy control subjects and 177 clinical diagnosed with type 2 diabetes. For both SNPs analyzed, the best model was the dominant type: rs12255372 = G/G G/T+T/T, OR = 0.63, 95%CI: 0.40-0.98, < 0.05 and rs7903146 = C/C C/T+T/T, OR = 0.79, 95%CI: 0.41-1.55, = 0.3. The rs12255372 SNP showed high association with the type 2 diabetes cases (OR = 1.60, 95%CI: 1.20-2.51, < 0.05). However, when the type 2 diabetics group was analyzed according to the atypical and classical subgroupings, the association with diabetes existed only for rs12255372 and the classical subgroup ( controls: OR = 2.1, 95%CI: 1.21-3.75, < 0.05); no significant differences were found for either SNP or atypical diabetes.
This is the first time SNPs_ were genotyped in a diabetic population stratified by genotype instead of phenotype. Classical and atypical patients showed statistical differences.
研究乌拉圭人群中[具体基因名称]的突变是否与“非典型糖尿病”相关。
从乌拉圭三级转诊医疗中心的就诊人群中选取健康的非糖尿病对照者（n = 133）和2型糖尿病患者（n = 177）。2型糖尿病患者根据“非典型糖尿病”（n = 92）和“经典糖尿病”（n = 85）进行亚组划分。使用曼氏探针进行[具体基因名称]中rs12255372和rs7903146单核苷酸多态性（SNP）的基因分型。随机样本由Macrogen有限公司（韩国）进行测序。使用SNPStats在线工具（http://bioinfo.iconcologia.net/SNPstats）对SNP数据进行统计分析。根据赤池信息准则和贝叶斯信息准则的最低值选择最佳遗传模型。在检查正态分布后，通过非配对t检验确定组间差异，或对数据进行转换以使其标准化。使用χ²分析和计算比值比（OR）及95%置信区间（CI）对匹配的病例对照样本进行SNP关联测试。所有统计检验均使用SPSS v10.0和EpiInfo7统计软件包进行。在所有显示校正P < 0.05的情况下均假定存在显著统计学差异。
我们对310名乌拉圭受试者的人群样本进行了两个[具体基因名称]SNP（rs7903146和rsl2255372）的基因分型，其中包括133名健康对照者和177名临床诊断为2型糖尿病的患者。对于所分析的两个SNP，最佳模型均为主导型：rs12255372 = G/G对G/T + T/T，OR = 0.63，95%CI：0.40 - 0.98，P < 0.05；rs7903146 = C/C对C/T + T/T，OR = 0.79，95%CI：0.41 - 1.55，P = 0.3。rs12255372 SNP与2型糖尿病病例高度相关（OR = 1.60，95%CI：1.20 - 2.51，P < 0.05）。然而，当根据非典型和经典亚组对2型糖尿病患者组进行分析时，仅rs12255372与经典亚组的糖尿病存在关联（对照组：OR = 2.1，95%CI：1.21 - 3.75，P < 0.05）；对于任何一个SNP与非典型糖尿病均未发现显著差异。
这是首次在按基因型而非表型分层的糖尿病患者群体中对[具体基因名称]SNP进行基因分型。经典型和非典型型患者显示出统计学差异。
