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Genetics of diabetes 被引量:3
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作者 Shiwali Goyal Jyoti Rani +1 位作者 Mohd Akbar Bhat Vanita Vanita 《World Journal of Diabetes》 SCIE 2023年第6期656-679,共24页
Diabetes mellitus is a complicated disease characterized by a complex interplay of genetic,epigenetic,and environmental variables.It is one of the world's fastestgrowing diseases,with 783 million adults expected t... Diabetes mellitus is a complicated disease characterized by a complex interplay of genetic,epigenetic,and environmental variables.It is one of the world's fastestgrowing diseases,with 783 million adults expected to be affected by 2045.Devastating macrovascular consequences(cerebrovascular disease,cardiovascular disease,and peripheral vascular disease)and microvascular complications(like retinopathy,nephropathy,and neuropathy)increase mortality,blindness,kidney failure,and overall quality of life in individuals with diabetes.Clinical risk factors and glycemic management alone cannot predict the development of vascular problems;multiple genetic investigations have revealed a clear hereditary component to both diabetes and its related complications.In the twenty-first century,technological advancements(genome-wide association studies,nextgeneration sequencing,and exome-sequencing)have led to the identification of genetic variants associated with diabetes,however,these variants can only explain a small proportion of the total heritability of the condition.In this review,we address some of the likely explanations for this"missing heritability",for diabetes such as the significance of uncommon variants,gene-environment interactions,and epigenetics.Current discoveries clinical value,management of diabetes,and future research directions are also discussed. 展开更多
关键词 Type 1 diabetes Type 2 diabetes Gestational diabetes mellitus maturityonset diabetes of young Genome-wide association studies Common variants Rare variants
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KCNJ11突变的年轻成年发病型糖尿病13型家系临床分析 被引量:1
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作者 邱秀萍 涂梅 +3 位作者 陈阳 丘水林 陈杭菊 童艳 《中国糖尿病杂志》 CAS CSCD 北大核心 2021年第6期410-415,共6页
对2个伴有整流性钾离子通道J家族11因子(KCNJ11)突变的MODY13家系进行遗传病因分析。应用全外显子组测序分析发现,两个家系为KCNJ11突变,但突变位点不同。本报告首次报道有关KCNJ11突变的致病性。
关键词 糖尿病 基因 年轻的成年发病型糖尿病
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