Behl Rachna, Malhotra Nishtha, Joshi Vinay, Poojary Shruti, Middha Sanniya, Gupta Shalini, Olaonipekun Arinola B, Okoye Ikechukwu, Wagh Bhushan, Biswas Dibyendu, Aginah Chukwuemelie, Saini Bhavya, Nwanya Chinaza, Ugwu Sopuluchukwu, Anthony Modupe M, Fang Xuanyu S, Foluso Ogunfile, Ibrahim Abdulrahman Tudu
Department of Biochemistry, Panjab University, Chandigarh, India.
New Delhi, India.
J Diabetes Metab Disord. 2022 Feb 2;21(1):1037-1046. doi: 10.1007/s40200-022-00975-8. eCollection 2022 Jun.
Previously, numerous case-control studies have highlighted variants responsible for Maturity onset diabetes of young (MODY). However, these studies have been conducted among diverse populations and hence yielded contradictory results. We, therefore, performed a meta-analysis to precisely find the association of SNPs with the disease for the HNF1A gene.
Meta-analysis of clinically defined studies deciphering mutations in the HNF1A gene responsible for the development of MODY3 was conducted among various populations to determine associations using statistical approaches.
The curation of 505 research articles published between the years 2000-2021 was carried out. Visualization of data-related protocols and statistical-analysis were conducted, which led to the identification of highly prevalent mutations among different populations (majorly Europe). Further comparison between the frequencies of the control (healthy population) and test (diseased population) dataset generated through curation was performed.
We identified nine MODY3 mutations (rs587776825, rs1169288, rs1800574, rs2464196, rs137853244, rs137853238, rs587780357, rs137853240 and rs137853243) at the genome-wide significance level ( < 5.0 × 10). The present study confirmed that the data does not follow a normal distribution. Further, the data was confirmed to be a more homogenous type with frequencies having a significant association with the disease.
This meta-analysis found significant associations of mutations in HNF1A with MODY3, consistent with previous studies. Our findings should help elucidate the mutations in a compiled form responsible for causing MODY3.
The online version contains supplementary material available at 10.1007/s40200-022-00975-8.
此前，众多病例对照研究已突显了导致青年发病型糖尿病（MODY）的变异。然而，这些研究是在不同人群中开展的，因此得出了相互矛盾的结果。所以，我们进行了一项荟萃分析，以精确找出单核苷酸多态性（SNP）与HNF1A基因相关疾病的关联。
在不同人群中对临床定义的研究进行荟萃分析，这些研究解读了导致MODY3发生的HNF1A基因中的突变，以使用统计方法确定关联。
对2000年至2021年间发表的505篇研究文章进行筛选。进行了数据相关方案的可视化和统计分析，从而确定了不同人群（主要是欧洲人群）中高度普遍的突变。进一步对通过筛选生成的对照（健康人群）和测试（患病人群）数据集的频率进行了比较。
我们在全基因组显著性水平（<5.0×10）下鉴定出9个MODY3突变（rs587776825、rs1169288、rs1800574、rs2464196、rs137853244、rs137853238、rs587780357、rs137853240和rs137853243）。本研究证实数据不遵循正态分布。此外，数据被确认为更具同质性的类型，其频率与疾病有显著关联。
这项荟萃分析发现HNF1A中的突变与MODY3有显著关联，与先前的研究一致。我们的研究结果应有助于以汇编形式阐明导致MODY3的突变。
在线版本包含可在10.1007/s40200-022-00975-8获取的补充材料。
