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  • Autoimunitní diabetes mellitus, nazývaný diabetes mellitus 1. typu (T1DM), je způsoben autoimunitní destrukcí ostrůvkových beta buněk v pankreatu. Predispoziční lokusy T1DM, zmapované různými genomovými skríningy, jsou IDDM1-IDDM18. Bylo stanoveno, že HLA (IDDM1) formuje až 40-50 % familiárního výskytu T1DM (LOD skóre 65.8). Mnoho studií ověřilo, že DQB1*0302 je silný predispoziční gen a že heterozygotní kombinace DQA1*0301-DQB1*0302 na haplotypu HLA-DR4 a DQA1*0501-DQB1*0201 na haplotypu HLA-DR3 synergisticky vede ke zvýšenému riziku T1DM. Přítomnost predispozičních genů u autoimunitního diabetes se snižuje s věkem, pravděpodobně vzhledem k narůstajícímu vlivu vnějších faktorů. Autoimunitní diabetes s manifestací v dospělosti může mít částečně odlišnou imunogenetickou etiopatogenezi než autoimunitní diabetes s manifestací v dětství. Ve srovnání s rychle progredujícím T1DM dospělých, pomalu progredující diabetes 1. typu dospělých (LADA) by mohl zahrnovat geny vedoucí k pomalé destrukci beta-buněk. (cs)
  • Autoimmune diabetes mellitus, called type 1 diabetes mellitus (T1DM), is caused by autoimmune destruction of islet beta cells in the pancreas. T1DM susceptibility loci mapped by different genome screening are IDDM1-IDDM18. It has been estimated that HLA (IDDM1) provides up to 40-50 % of the familial clustering of T1DM (LOD score of 65.8). Many studies have verified that DQB1*0302 is a strong susceptibility gene and that the heterozygous combination of DQA1*0301-DQB1*0302 on the HLA-DR4 haplotype and DQA1*0501-DQB1*0201 on the HLA-DR3 haplotype results in a synergistically increased risk of T1DM. The presence of predisposing genes in autoimmune diabetes decreases with age, probably due to increasing influence of environmental factors. Autoimmune diabetes with manifestation in adults may have partly different immunogenetic etiopathogenesis than autoimmune diabetes with manifestation in childhood. Compared to fast progressing adult-onset T1DM, slowly progressing adult-onset type 1 diabetes (LADA) might i
  • Autoimmune diabetes mellitus, called type 1 diabetes mellitus (T1DM), is caused by autoimmune destruction of islet beta cells in the pancreas. T1DM susceptibility loci mapped by different genome screening are IDDM1-IDDM18. It has been estimated that HLA (IDDM1) provides up to 40-50 % of the familial clustering of T1DM (LOD score of 65.8). Many studies have verified that DQB1*0302 is a strong susceptibility gene and that the heterozygous combination of DQA1*0301-DQB1*0302 on the HLA-DR4 haplotype and DQA1*0501-DQB1*0201 on the HLA-DR3 haplotype results in a synergistically increased risk of T1DM. The presence of predisposing genes in autoimmune diabetes decreases with age, probably due to increasing influence of environmental factors. Autoimmune diabetes with manifestation in adults may have partly different immunogenetic etiopathogenesis than autoimmune diabetes with manifestation in childhood. Compared to fast progressing adult-onset T1DM, slowly progressing adult-onset type 1 diabetes (LADA) might i (en)
Title
  • Genetics of autoimmune diabetes mellitus
  • Genetics of autoimmune diabetes mellitus (en)
  • Genetika autoimunitního diabetes mellitus (cs)
skos:prefLabel
  • Genetics of autoimmune diabetes mellitus
  • Genetics of autoimmune diabetes mellitus (en)
  • Genetika autoimunitního diabetes mellitus (cs)
skos:notation
  • RIV/00216208:11120/08:00000685!RIV09-MSM-11120___
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  • RIV/00216208:11120/08:00000685
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  • type 1 diabetes mellitus; LADA; IDDM; HLA, autoantibodies (en)
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  • AT - Rakouská republika
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  • [A64517DA5F4C]
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  • 158
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  • Černá, Marie
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  • 0043-5341
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  • 11120
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