6533b7d6fe1ef96bd1265b03

RESEARCH PRODUCT

An Intergenic rs9275596 Polymorphism on Chr. 6p21 Is Associated with Multiple Sclerosis in Latvians

Ilva TrapinaNikolajs SjaksteJolanta KalninaTatjana SjaksteKristine DokaneNatalia Paramonova

subject

AdultMaleMedicine (General)the major histocompatibility complex (MHC)PopulationDiseasemultiple sclerosisPolymorphism Single NucleotideArticleR5-920GenotypemedicineHLA-DQ beta-ChainsHumansSNPautoimmune diseasesAlleleeducationGenetic associationGeneticseducation.field_of_studybusiness.industryMultiple sclerosisOdds ratiors9275596; the major histocompatibility complex (MHC); Human leukocyte antigen (HLA); autoimmune diseases; multiple sclerosisMiddle Agedmedicine.diseaseLatviaHuman leukocyte antigen (HLA)Case-Control StudiesAutomotive Engineeringrs9275596FemalebusinessGenome-Wide Association Study

description

Background and objectives: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, leading to demyelination of neurons and potentially debilitating physical and mental symptoms. The disease is more prevalent in women than in men. The major histocompatibility complex (MHC) region has been identified as a major genetic determinant for autoimmune diseases, and its role in some neurological disorders including MS was evaluated. An intergenic single-nucleotide polymorphism (SNP), rs9275596, located between the HLA-DQB1 and HLA-DQA2 genes, is in significant association with various autoimmune diseases according to genome-wide association studies (GWASs). A cumulative effect of this SNP with other polymorphisms from this region was revealed. The aim of the study was to verify the data on rs9275596 association in multiple sclerosis in a case/control study of the Latvian population and to evaluate eventual functional significance of allele substitutions. Materials and Methods: rs9275596 (chr6:32713854

yearjournalcountryeditionlanguage
2020-03-31Medicina
https://doi.org/10.3390/medicina56040154