非洲早发性糖尿病:当前遗传概况的小型回顾。

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2023-11-21 DOI:10.1016/j.ejmg.2023.104887
Samuel Mawuli Adadey , Joy Afua Mensah , Kojo Sekyi Acquah , James Abugri , Richard Osei-Yeboah
{"title":"非洲早发性糖尿病:当前遗传概况的小型回顾。","authors":"Samuel Mawuli Adadey ,&nbsp;Joy Afua Mensah ,&nbsp;Kojo Sekyi Acquah ,&nbsp;James Abugri ,&nbsp;Richard Osei-Yeboah","doi":"10.1016/j.ejmg.2023.104887","DOIUrl":null,"url":null,"abstract":"<div><p><span><span>Early-onset diabetes is poorly diagnosed partly due to its heterogeneity and variable presentations. Although several genes have been associated with the disease, these genes are not well studied in Africa. We sought to identify the major neonatal, early childhood, juvenile, or early-onset diabetes genes in Africa; and evaluate the available molecular methods used for investigating these gene variants. A literature search was conducted on PubMed, </span>Scopus<span>, Africa-Wide Information, and Web of Science databases. The retrieved records were screened and analyzed to identify genetic variants associated with early-onset diabetes. Although 319 records were retrieved, 32 were considered for the current review. Most of these records (22/32) were from North Africa. The disease condition was genetically heterogenous with most cases possessing unique gene variants. We identified 22 genes associated with early-onset diabetes, 9 of which had variants (n = 19) classified as pathogenic or likely pathogenic (PLP). Among the PLP variants, </span></span><em>IER3IP1</em><span>: p.(Leu78Pro) was the variant with the highest number of cases. There was limited data from West Africa, hence the contribution of genetic variability to early-onset diabetes in Africa could not be comprehensively evaluated. It is worth mentioning that most studies were focused on natural products as antidiabetics and only a few studies reported on the genetics of the disease. </span><span><em>ABCC8</em></span> and <em>KCNJ11</em><span><span> were implicated as major contributors to early-onset diabetes gene networks. Gene ontology analysis of the network associated ion channels, </span>impaired glucose tolerance<span>, and decreased insulin secretions to the disease. Our review highlights 9 genes from which PLP variants have been identified and can be considered for the development of an African diagnostic panel. There is a gap in early-onset diabetes genetic research from sub-Saharan Africa which is much needed to develop a comprehensive, efficient, and cost-effective genetic panel that will be useful in clinical practice on the continent and among the African diasporas</span></span><strong>.</strong></p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104887"},"PeriodicalIF":1.6000,"publicationDate":"2023-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Early-onset diabetes in Africa: A mini-review of the current genetic profile\",\"authors\":\"Samuel Mawuli Adadey ,&nbsp;Joy Afua Mensah ,&nbsp;Kojo Sekyi Acquah ,&nbsp;James Abugri ,&nbsp;Richard Osei-Yeboah\",\"doi\":\"10.1016/j.ejmg.2023.104887\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span><span>Early-onset diabetes is poorly diagnosed partly due to its heterogeneity and variable presentations. Although several genes have been associated with the disease, these genes are not well studied in Africa. We sought to identify the major neonatal, early childhood, juvenile, or early-onset diabetes genes in Africa; and evaluate the available molecular methods used for investigating these gene variants. A literature search was conducted on PubMed, </span>Scopus<span>, Africa-Wide Information, and Web of Science databases. The retrieved records were screened and analyzed to identify genetic variants associated with early-onset diabetes. Although 319 records were retrieved, 32 were considered for the current review. Most of these records (22/32) were from North Africa. The disease condition was genetically heterogenous with most cases possessing unique gene variants. We identified 22 genes associated with early-onset diabetes, 9 of which had variants (n = 19) classified as pathogenic or likely pathogenic (PLP). Among the PLP variants, </span></span><em>IER3IP1</em><span>: p.(Leu78Pro) was the variant with the highest number of cases. There was limited data from West Africa, hence the contribution of genetic variability to early-onset diabetes in Africa could not be comprehensively evaluated. It is worth mentioning that most studies were focused on natural products as antidiabetics and only a few studies reported on the genetics of the disease. </span><span><em>ABCC8</em></span> and <em>KCNJ11</em><span><span> were implicated as major contributors to early-onset diabetes gene networks. Gene ontology analysis of the network associated ion channels, </span>impaired glucose tolerance<span>, and decreased insulin secretions to the disease. Our review highlights 9 genes from which PLP variants have been identified and can be considered for the development of an African diagnostic panel. There is a gap in early-onset diabetes genetic research from sub-Saharan Africa which is much needed to develop a comprehensive, efficient, and cost-effective genetic panel that will be useful in clinical practice on the continent and among the African diasporas</span></span><strong>.</strong></p></div>\",\"PeriodicalId\":11916,\"journal\":{\"name\":\"European journal of medical genetics\",\"volume\":\"66 12\",\"pages\":\"Article 104887\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2023-11-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of medical genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1769721223001933\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of medical genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1769721223001933","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

早发性糖尿病诊断较差,部分原因是其异质性和不同的表现。虽然有几个基因与该病有关,但这些基因在非洲没有得到很好的研究。我们试图确定非洲主要的新生儿、幼儿、青少年或早发性糖尿病基因;并评估用于研究这些基因变异的可用分子方法。对PubMed、Scopus、Africa-Wide Information和Web of Science数据库进行了文献检索。对检索到的记录进行筛选和分析,以确定与早发性糖尿病相关的遗传变异。虽然检索了319条记录,但本次审查考虑了32条。这些记录(22/32)大多来自北非。该病具有遗传异质性,多数病例具有独特的基因变异。我们确定了22个与早发性糖尿病相关的基因,其中9个具有被归类为致病性或可能致病性(PLP)的变异(n = 19)。在PLP变异中,IER3IP1: p.(Leu78Pro)是发病最多的变异。来自西非的数据有限,因此无法全面评估遗传变异对非洲早发性糖尿病的贡献。值得一提的是,大多数研究都集中在天然产品作为抗糖尿病药物,只有少数研究报道了该疾病的遗传学。ABCC8和KCNJ11被认为是早发性糖尿病基因网络的主要贡献者。基因本体论分析与网络相关的离子通道、糖耐量受损和胰岛素分泌减少对疾病的影响。我们的综述强调了已经鉴定出PLP变异的9个基因,可以考虑开发非洲诊断小组。撒哈拉以南非洲地区的早发性糖尿病基因研究存在空白,亟需开发一个全面、高效、具有成本效益的基因小组,用于该大陆和非洲散居者的临床实践。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Early-onset diabetes in Africa: A mini-review of the current genetic profile

Early-onset diabetes is poorly diagnosed partly due to its heterogeneity and variable presentations. Although several genes have been associated with the disease, these genes are not well studied in Africa. We sought to identify the major neonatal, early childhood, juvenile, or early-onset diabetes genes in Africa; and evaluate the available molecular methods used for investigating these gene variants. A literature search was conducted on PubMed, Scopus, Africa-Wide Information, and Web of Science databases. The retrieved records were screened and analyzed to identify genetic variants associated with early-onset diabetes. Although 319 records were retrieved, 32 were considered for the current review. Most of these records (22/32) were from North Africa. The disease condition was genetically heterogenous with most cases possessing unique gene variants. We identified 22 genes associated with early-onset diabetes, 9 of which had variants (n = 19) classified as pathogenic or likely pathogenic (PLP). Among the PLP variants, IER3IP1: p.(Leu78Pro) was the variant with the highest number of cases. There was limited data from West Africa, hence the contribution of genetic variability to early-onset diabetes in Africa could not be comprehensively evaluated. It is worth mentioning that most studies were focused on natural products as antidiabetics and only a few studies reported on the genetics of the disease. ABCC8 and KCNJ11 were implicated as major contributors to early-onset diabetes gene networks. Gene ontology analysis of the network associated ion channels, impaired glucose tolerance, and decreased insulin secretions to the disease. Our review highlights 9 genes from which PLP variants have been identified and can be considered for the development of an African diagnostic panel. There is a gap in early-onset diabetes genetic research from sub-Saharan Africa which is much needed to develop a comprehensive, efficient, and cost-effective genetic panel that will be useful in clinical practice on the continent and among the African diasporas.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
期刊最新文献
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1