Clinical profile of participants in the study.

Type 2 diabetes mellitus leads to debilitating complications that affect the quality of life of many Filipinos. Genetic variability contributes to 30% to 70% of T2DM risk. Determining genomic variants related to type 2 diabetes mellitus susceptibility can lead to early detection to prevent complications. However, interethnic variability in risk and genetic susceptibility exists. This study aimed to identify variants associated with type 2 diabetes mellitus among Filipinos using a case-control design frequency matched for age and sex. A comparison was made between 66 unrelated Filipino adults with type 2 diabetes mellitus and 121 without. Genotyping was done using a candidate gene approach on genetic variants of type 2 diabetes mellitus and its complications involving allelic association and genotypic association studies with correction for multiple testing. Nine (9) significant variants, mostly involved in glucose and energy metabolism, associated with type 2 diabetes mellitus in Filipinos were found. Notably, a CDKAL1 variant (rs7766070) confers the highest level of risk while rs7119 (HMG20A) and rs708272 (CETP) have high risk allele frequencies in this population at 0.77 and 0.66, respectively, making them potentially good markers for type 2 diabetes mellitus screening. The data generated can be valuable in developing genetic risk prediction models for type 2 diabetes mellitus to diagnose and prevent the condition among Filipinos.2型糖尿病（Type 2 Diabetes Mellitus, T2DM）会引发多种致残性并发症，严重影响众多菲律宾民众的生活质量。遗传变异可解释30%至70%的T2DM发病风险。明确与2型糖尿病易感性相关的基因组变异，有助于实现疾病早筛以预防并发症发生。然而，不同种族间的发病风险与遗传易感性存在显著差异。本研究采用年龄与性别频率匹配的病例-对照研究设计，旨在识别菲律宾人群中与2型糖尿病相关的基因组变异。研究共纳入66名无亲缘关系的2型糖尿病菲律宾成年患者，以及121名健康对照个体开展对照分析。本研究采用候选基因策略对与2型糖尿病及其并发症相关的基因组变异进行基因分型，开展等位基因关联与基因型关联分析，并对多重检验进行校正。最终共发现9个与菲律宾人群2型糖尿病显著相关的基因组变异，其中多数参与糖代谢与能量代谢过程。值得注意的是，CDKAL1基因变异（rs7766070）的致病风险最高；而rs7119（HMG20A）与rs708272（CETP）在该人群中的风险等位基因频率分别高达0.77与0.66，有望成为2型糖尿病筛查的潜在有效标志物。本研究产生的数据，可为构建适用于菲律宾人群的2型糖尿病遗传风险预测模型提供重要支撑，助力该疾病的诊断与预防。