Matsha Tandi E, Raghubeer Shanel, Tshivhase Abegail M, Davids Saarah F G, Hon Gloudina M, Bjørkhaug Lise, Erasmus Rajiv T
SAMRC/Cardiometabolic Health Research Unit, Department of Biomedical Sciences, Faculty of Health & Wellness Sciences, Cape Peninsula University of Technology, Bellville Campus, Cape Town 7530, South Africa.
Department of Safety, Chemistry, and Biomedical Laboratory Sciences, Western Norway University of Applied Sciences, Bergen, Norway.
Appl Clin Genet. 2020 Dec 14;13:209-219. doi: 10.2147/TACG.S281872. eCollection 2020.
Maturity-onset diabetes of the young (MODY) is the result of single gene variants. To date, fourteen different MODY subtypes have been described. Variants in genes coding for glucokinase (, MODY2) and hepatic nuclear factor 1 alpha (, MODY3) are most frequently encountered. MODY patients are often misdiagnosed with type 1 or type 2 diabetes, resulting in incorrect treatment protocols. At the time of reporting, no data are available on MODY prevalence in populations from Africa. Our study aimed to investigate and report on the incidence of MODY-related variants, specifically variants, in a population from the Western Cape.
Study participants were recruited (1643 in total, 407 males, 1236 females) and underwent anthropometric tests. Thereafter, blood was collected, and real-time PCR was used to screen for specific variants in and genes.
Ninety-seven individuals (5.9%) were identified with a specific gene polymorphism (rs1169288) and twelve (0.9%) with a polymorphism (rs4607517).
In total, 6.6% of the study population expressed MODY variants. To our knowledge, we are the first to report on MODY incidence in Africa. This research provides the basis for MODY incidence studies in South Africa, as well as data on non-Caucasian populations.
青年发病的成年型糖尿病（MODY）是单基因变异的结果。迄今为止，已描述了14种不同的MODY亚型。编码葡萄糖激酶（MODY2）和肝细胞核因子1α（MODY3）的基因变异最为常见。MODY患者常被误诊为1型或2型糖尿病，导致治疗方案错误。在撰写本报告时，尚无关于非洲人群中MODY患病率的数据。我们的研究旨在调查并报告西开普省人群中与MODY相关的变异，特别是 变异的发生率。
招募研究参与者（共1643人，男性407人，女性1236人）并进行人体测量测试。此后，采集血液，使用实时PCR筛选 和 基因中的特定变异。
97人（5.9%）被鉴定出具有特定的 基因多态性（rs1169288），12人（0.9%）具有 多态性（rs4607517）。
总体而言，6.6%的研究人群表达了MODY变异。据我们所知，我们是首个报告非洲MODY发病率的研究。本研究为南非的MODY发病率研究提供了依据，也为非白种人群提供了数据。
