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探讨伊朗青少年起病的成年型糖尿病(MODY)的临床和遗传谱。

Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.

机构信息

Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, P.O. Box 19195-4763, Tehran, Iran.

Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran.

出版信息

Sci Rep. 2024 Aug 27;14(1):19860. doi: 10.1038/s41598-024-70864-y.

Abstract

Maturity-onset diabetes of the young (MODY) is an uncommon monogenic type of diabetes mellitus. Detecting genetic variants for MODY is a necessity for precise diagnosis and treatment. The majority of MODY genetic predisposition has been documented in European populations and a lack of information is present in Iranians which leads to misdiagnosis as a consequence of defects in unknown variants. In this study, using genetic variant information of 20,002 participants from the family-based TCGS (Tehran Cardiometabolic Genetic Study) cohort, we evaluated the genetic spectrum of MODY in Iran. We concentrated on previously discovered MODY-causing genes. Genetic variants were evaluated for their pathogenicity. We discovered 6 variants that were previously reported in the ClinVar as pathogenic/likely pathogenic (P/LP) for MODY in 45 participants from 24 families (INS in 21 cases, GCK in 13, HNF1B in 8, HNF4A, HNF1A, and CEL in 1 case). One potential MODY variant with Uncertain Risk Allele in ClinVar classification was also identified, which showed complete disease penetrance (100%) in four subjects from one family. This is the first family-based study to define the genetic spectrum and estimate the prevalence of MODY in Iran. The discovered variants need to be investigated by additional studies.

摘要

青少年发病的成年型糖尿病(MODY)是一种罕见的单基因糖尿病。检测 MODY 的遗传变异是进行准确诊断和治疗的必要条件。大多数 MODY 的遗传易感性已在欧洲人群中得到证实,而伊朗缺乏相关信息,这导致由于未知变异的缺陷而导致误诊。在这项研究中,我们利用基于家庭的 TCGS(德黑兰心血管代谢基因研究)队列的 20002 名参与者的遗传变异信息,评估了伊朗的 MODY 遗传谱。我们专注于先前发现的导致 MODY 的基因。评估了遗传变异的致病性。我们在 24 个家庭的 45 名参与者中发现了 6 个先前在 ClinVar 中报告的致病性/可能致病性(P/LP)MODY 变异(21 例为 INS,13 例为 GCK,8 例为 HNF1B,HNF4A、HNF1A 和 CEL 各 1 例)。ClinVar 分类中还发现了一个潜在的 MODY 变异,具有不确定的风险等位基因,在一个家庭的 4 个受试者中完全具有疾病外显率(100%)。这是首次在伊朗进行的基于家庭的研究,用于确定 MODY 的遗传谱并估计其患病率。需要进行更多的研究来进一步调查发现的变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ed/11349921/24158dcbdad0/41598_2024_70864_Fig1_HTML.jpg

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