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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Non HLA genetic markers association with type-1 diabetes mellitus
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Non HLA genetic markers association with type-1 diabetes mellitus

机译：非HLA遗传标记与1型糖尿病的关联

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The currently available data identified IDDM1 and IDDM2 as 2 susceptibility loci for type 1 diabetes (T1D). The major histocompatibility complex (MHC)/HLA region referred to as IDDM1 contains several 100 genes known to have a great influence on T1D risk. Within IDDM2, a minisatellite variable number of tandem repeats (VNTR) locus in the insulin gene (INS) promoter region is likely to represent the etiologic polymorphism. The aim of the present work was to study the association between genotypes and susceptibility to T1D among Egyptian diabetic children and their family members. Twenty-five nuclear Egyptian families with 27 children having T1D, aged 3–14years, their non-diabetic 44 sibs, aged 3–15years and their parents were included in our study. All studied children were subjected to: detailed history and family pedigree. Thorough clinical examination and anthropometric measurements. Laboratory work up of diabetes including random blood sugar (RBS) and HbA 1 C. Molecular genetics of INS was studied in four steps; nucleic acid purification, amplification, sequencing and haplotyping using flanking single nucleotide polymorphisms (SNPs) as surrogate markers for minisatellite alleles identification. Analysis of variant repeat distribution among Egyptian families combined with flanking haplotypes revealed that all our diabetic children had class I alleles of INS; 9 had class IC+, 9 had class ID+ and 9 had class ID?, while all non-diabetic family members had class III alleles of INS. Therefore the three class I alleles were considered to be equally predisposing to T1D, while class III alleles are dominantly protective. There was significant positive correlations between body mass index (BMI) and both HbA 1 C and AST liver enzyme among diabetic children with class IC+ but not other alleles; indicating that they need close monitoring of their diabetic control and liver functions beside following specific dietary regimens. It can be concluded that all class I alleles (IC+, ID+ and ID?) are equally important susceptibility factors for T1D among Egyptian children, while class III alleles (IIIA and IIIB) are dominantly protective. It is concluded also that our diabetic children with class IC+ are an especially endangered subgroup of diabetics. Genotyping for INS-VNTR alleles is recommended for diabetic children as an important step of diagnostic and follow up regimens and for their non-diabetic family members for family counseling and early identification of potential diabetics. Further studies of INS-VNTR alleles and HLA haplotypes all over Egypt are recommended to define the Egyptian susceptibility loci for T1D and their relations to the clinical and laboratory findings as an important national programs.
机译：当前可用的数据将IDDM1和IDDM2确定为1型糖尿病（T1D）的2个易感基因座。称为IDDM1的主要组织相容性复合体（MHC）/ HLA区包含数百个已知对T1D风险有重大影响的基因。在IDDM2中，胰岛素基因（INS）启动子区域中的微卫星可变数目的串联重复（VNTR）基因座很可能代表了病因多态性。本研究的目的是研究埃及糖尿病儿童及其家庭成员的基因型与易感性T1D之间的关系。我们的研究包括25个埃及核家庭，其中27个儿童患有3至14岁的T1D，非糖尿病的44个同胞，年龄3至15岁，及其父母。所有研究的儿童均接受：详细的病史和家谱。全面的临床检查和人体测量。糖尿病的实验室检查包括随机血糖（RBS）和HbA 1C。INS的分子遗传学分四个步骤进行研究;侧翼单核苷酸多态性（SNP）作为替代标记，用于小卫星等位基因鉴定的核酸纯化，扩增，测序和单倍型分析。对埃及家庭中变异重复分布与侧翼单倍型的分析表明，我们所有的糖尿病儿童均具有INS的I类等位基因。 9个具有IC +类，9个具有ID +类，9个具有ID类？，而所有非糖尿病家族成员均具有INS的III类等位基因。因此，三个I类等位基因被认为同样易患T1D，而III类等位基因则具有保护性。患有IC +类但非其他等位基因的糖尿病儿童的体重指数（BMI）与HbA 1 C和AST肝酶均呈显着正相关。表明除了遵循特定的饮食方案外，他们还需要密切监测其糖尿病控制和肝功能。可以得出结论，所有I类等位基因（IC +，ID +和ID？）都是埃及儿童中T1D的重要易感因素，而III类等位基因（IIIA和IIIB）则具有保护性。还得出结论，我们的IC +级糖尿病儿童是糖尿病患者特别濒危的亚组。建议将INS-VNTR等位基因进行基因分型，作为糖尿病儿童诊断和随访方案的重要步骤，并建议其非糖尿病家庭成员进行家庭咨询和早期识别潜在糖尿病患者。建议对整个埃及的INS-VNTR等位基因和HLA单倍型进行进一步研究，以将埃及T1D易感基因座及其与临床和实验室检查结果的关系定义为重要的国家计划。

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