BACKGROUND IFIH1 is a protein-coding gene.Disorders associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type 1.Related pathways include RIG-I/MDA5-mediated induction ...BACKGROUND IFIH1 is a protein-coding gene.Disorders associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type 1.Related pathways include RIG-I/MDA5-mediated induction of the interferon(IFN)-α/βpathway and the innate immune system.AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment.In infancy,most patients present with psychomotor retardation,axial hypotonia,spasticity,and brain imaging changes Laboratory assessments showed increased IFN-αactivity with upregulation of IFN signaling and IFN-stimulated gene expression.Some patients develop normally in the early stage,and then have episodic neurological deficits.CASE SUMMARY The 5-year-old girl presented with postpartum height and weight growth retardation,language retardation,brain atrophy,convulsions,and growth hormone deficiency.DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation.Heterozygous mutations in the IFIH1 gene were found.Physical examination at admission found that language development was delayed,the reaction to name calling was average,there was no communication with people,but there was eye contact,no social smile,and no autonomous language.However,the child had rich gesture language and body language,could understand instructions,had bad temper.When she wants to achieve something,she starts crying or shouting.Cardiopulmonary examination showed no obvious abnormality,and abdominal examination was normal.Bilateral muscle strength and muscle tone were symmetrical and slightly decreased.Physiological reflexes exist,but pathological reflexes were not elicited.CONCLUSION We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7,which expanded the mutational spectrum of the IFIH1 gene.展开更多
采集102例15岁以下的1型糖尿病患者（糖尿病组）及127名对照者外周血，提取基因组DNA，对IFIH1（Interferon induced with helicase C domain 1）基因多态rs1990760与rs35744605的单核苷酸多态性（SNPs）进行检测。结果显示，糖尿病组...采集102例15岁以下的1型糖尿病患者（糖尿病组）及127名对照者外周血，提取基因组DNA，对IFIH1（Interferon induced with helicase C domain 1）基因多态rs1990760与rs35744605的单核苷酸多态性（SNPs）进行检测。结果显示，糖尿病组与对照组IFIH1 rs35744605等位基因均为野生型G等位基因。糖尿病组IFIH1 rs1990760 A等位基因频率高于对照组（22.1%对13.0%，P＝0.015），提示IFIH1 rs1990760 A等位基因是天津地区儿童1型糖尿病风险基因。展开更多
目的 探讨乙型肝炎表面抗原(hepatitis B surface antigen,HBsAg)自发阴转与干扰素诱导解旋酶C域蛋白1(interferon-induced with helicase C domain 1,IFIH1)基因rs1990760位点多态性及环境因素的交互作用。方法 从第一次调查开始至随...目的 探讨乙型肝炎表面抗原(hepatitis B surface antigen,HBsAg)自发阴转与干扰素诱导解旋酶C域蛋白1(interferon-induced with helicase C domain 1,IFIH1)基因rs1990760位点多态性及环境因素的交互作用。方法 从第一次调查开始至随访结束最后1次调查完成,选取了张家港市20个村的48 417人进行健康检查并定期随访,截至2018年共有81例HBsAg自发阴转者,708例HBsAg持续阳性者被纳入本研究。利用TaqMan实时聚合酶链反应进行rs1990760基因分型,运用相乘交互作用分析IFIH1基因与环境的交互作用。结果 IFIH1基因rs1990760的基因型频率分布在自发阴转组和持续阳性组之间的差异无统计学意义(P>0.05),显性模型、相加模型均尚未发现rs1990760多态性与HBsAg自发阴转的关联(显性模型:OR=0.91,95%CI=0.56~1.47;相加模型:OR=0.93,95%CI=0.62~1.40);基因-环境交互作用分析显示,rs1990760位点多态性与饮酒存在相乘交互作用(OR=0.34,95%CI=0.14~0.83,P<0.05),与携带rs1990760CC基因型的饮酒者相比,携带CC基因型的不饮酒者更容易发生HBsAg自发阴转(OR=0.39,95%CI=0.18~0.87,P<0.05)。结论 中国汉族人群IFIH1基因rs1990760位点多态性与饮酒的交互作用影响HBsAg阳性者的自发阴转。展开更多
文摘BACKGROUND IFIH1 is a protein-coding gene.Disorders associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type 1.Related pathways include RIG-I/MDA5-mediated induction of the interferon(IFN)-α/βpathway and the innate immune system.AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment.In infancy,most patients present with psychomotor retardation,axial hypotonia,spasticity,and brain imaging changes Laboratory assessments showed increased IFN-αactivity with upregulation of IFN signaling and IFN-stimulated gene expression.Some patients develop normally in the early stage,and then have episodic neurological deficits.CASE SUMMARY The 5-year-old girl presented with postpartum height and weight growth retardation,language retardation,brain atrophy,convulsions,and growth hormone deficiency.DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation.Heterozygous mutations in the IFIH1 gene were found.Physical examination at admission found that language development was delayed,the reaction to name calling was average,there was no communication with people,but there was eye contact,no social smile,and no autonomous language.However,the child had rich gesture language and body language,could understand instructions,had bad temper.When she wants to achieve something,she starts crying or shouting.Cardiopulmonary examination showed no obvious abnormality,and abdominal examination was normal.Bilateral muscle strength and muscle tone were symmetrical and slightly decreased.Physiological reflexes exist,but pathological reflexes were not elicited.CONCLUSION We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7,which expanded the mutational spectrum of the IFIH1 gene.
文摘目的 探讨乙型肝炎表面抗原(hepatitis B surface antigen,HBsAg)自发阴转与干扰素诱导解旋酶C域蛋白1(interferon-induced with helicase C domain 1,IFIH1)基因rs1990760位点多态性及环境因素的交互作用。方法 从第一次调查开始至随访结束最后1次调查完成,选取了张家港市20个村的48 417人进行健康检查并定期随访,截至2018年共有81例HBsAg自发阴转者,708例HBsAg持续阳性者被纳入本研究。利用TaqMan实时聚合酶链反应进行rs1990760基因分型,运用相乘交互作用分析IFIH1基因与环境的交互作用。结果 IFIH1基因rs1990760的基因型频率分布在自发阴转组和持续阳性组之间的差异无统计学意义(P>0.05),显性模型、相加模型均尚未发现rs1990760多态性与HBsAg自发阴转的关联(显性模型:OR=0.91,95%CI=0.56~1.47;相加模型:OR=0.93,95%CI=0.62~1.40);基因-环境交互作用分析显示,rs1990760位点多态性与饮酒存在相乘交互作用(OR=0.34,95%CI=0.14~0.83,P<0.05),与携带rs1990760CC基因型的饮酒者相比,携带CC基因型的不饮酒者更容易发生HBsAg自发阴转(OR=0.39,95%CI=0.18~0.87,P<0.05)。结论 中国汉族人群IFIH1基因rs1990760位点多态性与饮酒的交互作用影响HBsAg阳性者的自发阴转。
