Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Karp, DR; Marthandan, N; Marsh, SGE; Ahn, C; Arnett, FC; DeLuca, DS; Diehl, AD; Dunivin, R; Eilbeck, K; Feolo, M; Guidry, PA; Helmberg, W; Lewis, S; Mayes, MD; Mungall, C; Natale, DA; Peters, B; Petersdorf, E; Reveille, JD; Smith, B; Thomson, G; Waller, MJ; Scheuermann, RH.
Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis.
HUM MOL GENET. 2010; 19(4): 707-719.
Doi: 10.1093/hmg/ddp521
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- Co-Autor*innen der Med Uni Graz
- Helmberg Wolfgang
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- Abstract:
- We describe a novel approach to genetic association analyses with proteins sub-divided into biologically relevant smaller sequence features (SFs), and their variant types (VTs). SFVT analyses are particularly informative for study of highly polymorphic proteins such as the human leukocyte antigen (HLA), given the nature of its genetic variation: the high level of polymorphism, the pattern of amino acid variability, and that most HLA variation occurs at functionally important sites, as well as its known role in organ transplant rejection, autoimmune disease development and response to infection. Further, combinations of variable amino acid sites shared by several HLA alleles (shared epitopes) are most likely better descriptors of the actual causative genetic variants. In a cohort of systemic sclerosis patients/controls, SFVT analysis shows that a combination of SFs implicating specific amino acid residues in peptide binding pockets 4 and 7 of HLA-DRB1 explains much of the molecular determinant of risk.
- Find related publications in this database (using NLM MeSH Indexing)
- Genetic Variation -
- HLA Antigens - chemistry
- HLA-DR Antigens - chemistry
- HLA-DRB1 Chains -
- Humans -
- Molecular Conformation -
- Scleroderma, Systemic - genetics