IF 2.1 4区 医学 Q3 GENETICS & HEREDITY BMC Medical Genomics Pub Date : 2025-03-13 DOI:10.1186/s12920-025-02083-x
Salma Younes, Razan Elkahlout, Houda Kilani, Sarah Okashah, Hussain Al Sharshani, Zoulikha Rezoug, Hatem Zayed, Nader Al-Dewik
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引用次数: 0

摘要

背景:枫糖尿病(MSUD)是一种遗传性代谢疾病,由支链α-酮酸脱氢酶(BCKD)酶复合物缺乏引起。由于近亲结婚率高,中东、北非和土耳其(MENAT)地区的 MSUD 患病率显著上升。尽管开展了大量遗传关联研究,但 MSUD 基因型与表型之间的复杂关系仍然难以捉摸:我们系统地检索了四个文献数据库(PubMed、Scopus、Web of Science 和 Science Direct),收集了中东北非地区所有与 MSUD 相关的遗传数据。由六名研究人员组成的团队认真进行了质量评估和数据提取:本系统综述共纳入 16 项涉及患者的研究。其中,211 名患者的 105 个变异位于已知与 MSUD 相关的基因中。大多数已确定的 MSUD 变异存在于 BCKDHA(38%),其次是 BCKDHB(38%)、DBT(23%)和 PPM1K(1%)。值得注意的是,所发现的变异中有 77% 是中东和北非地区特有的:我们的系统综述揭示了中东和北非地区个体对 MSUD 独特的遗传和临床易感性特征。这些发现凸显了了解该人群中 MSUD 特殊遗传情况的重要性。有必要开展进一步研究,以阐明中东和北非地区 MSUD 基因型与表型之间的复杂关系。
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Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.

Background: Maple syrup urine disease (MSUD) is a hereditary metabolic disorder caused by a deficiency in the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. The Middle East and North Africa, and Türkiye (MENAT) region has witnessed a significant rise in the prevalence of MSUD due to high rates of consanguinity. Despite numerous genetic association studies, the complex relationships between genotype and phenotype in MSUD remain elusive.

Aim: This study aimed to systematically review the variants significantly associated with MSUD in the MENAT region.

Methods: We systematically searched four literature databases (PubMed, Scopus, Web of Science, and Science Direct) from inception until December 2023 to gather all reported genetic data pertaining to MSUD in the MENAT region. Quality assessment and data extraction were diligently performed by a team of six investigators.

Results: A total of 16 studies, involving patients, were included in this systematic review. Among them, 211 patients presented with 105 variants located within genes known to be associated with MSUD. The majority of the identified MSUD variants were found in BCKDHA (38%), followed by BCKDHB (38%), DBT (23%), and PPM1K (1%). Notably, 77% of the captured variants were unique to the MENAT region.

Conclusion: Our systematic review reveals a distinctive genetic and clinical susceptibility profile of MSUD among individuals from the MENAT region. These findings highlight the importance of understanding the specific genetic landscape of MSUD in this population. Further research is warranted to elucidate the complex genotype-phenotype relationships in MSUD in the MENAT region.

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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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