Search results for "CLEC16A"

showing 3 items of 3 documents

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

2011

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have ena…

Immunity Cellular/geneticsCellular immunityMultiple SclerosisGenome-wide association studyCLEC16ABiologyPolymorphism Single NucleotideCell Differentiation/immunologyEurope/ethnologyMajor Histocompatibility Complex/geneticsMajor Histocompatibility Complex03 medical and health sciences0302 clinical medicinemedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHLA-A Antigens/geneticsAlleles030304 developmental biologyGenetic associationGenetics0303 health sciencesImmunity CellularMultidisciplinaryHLA-A AntigensGenome HumanMultiple sclerosisGenetic Predisposition to Disease/geneticsHLA-DR Antigens/geneticsLymphocyte differentiationCell DifferentiationHLA-DR AntigensT-Lymphocytes Helper-InducerRC346medicine.diseasePolymorphism Single Nucleotide/geneticsGenetic architecture3. Good healthEuropeSample SizeImmunologyGenome Human/geneticsMultiple Sclerosis/genetics030217 neurology & neurosurgeryT-Lymphocytes Helper-Inducer/cytologyGenome-Wide Association StudyHLA-DRB1 Chains
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

2013

International audience; Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variant…

Multiple SclerosisGenotype[SDV]Life Sciences [q-bio]European Continental Ancestry GroupGenome-wide association studyCLEC16ABiologymultiple sclerosisMajor histocompatibility complexPolymorphism Single NucleotideArticleWhite People03 medical and health sciences0302 clinical medicineResearch Support N.I.H. ExtramuralGene FrequencyPolymorphism (computer science)Journal ArticleGeneticsmedicineHumansGenetic Predisposition to DiseaseAlleleGenotypingAllele frequency030304 developmental biologyGenetics0303 health sciencesResearch Support Non-U.S. Gov'tMultiple sclerosisChromosome MappingGenetic Variationmedicine.disease3. Good healthGenetic Locibiology.protein030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyGenome-Wide Association Study
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Type 1 Diabetes and Autoimmune Thyroid Disease—The Genetic Link

2021

Type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) are the most frequent chronic autoimmune diseases worldwide. Several autoimmune endocrine and non-endocrine disorders tend to occur together. T1D and AITD often cluster in individuals and families, seen in the formation of autoimmune polyendocrinopathy (AP). The close relationship between these two diseases is largely explained by sharing a common genetic background. The HLA antigens DQ2 (DQA1*0501-DQB1*0201) and DQ8 (DQA1*0301-DQB1*0302), tightly linked with DR3 and DR4, are the major common genetic predisposition. Moreover, functional single nucleotide polymorphisms (or rare variants) of various genes, such as the cytotoxic T-lym…

autoimmune polyendocrinopathyendocrine system diseasestype 1 diabetesEndocrinology Diabetes and MetabolismSingle-nucleotide polymorphismGenome-wide association studyCLEC16AHuman leukocyte antigenReviewBiologyPolymorphism Single Nucleotidelcsh:Diseases of the endocrine glands. Clinical endocrinologyPTPN22single nucleotide polymorphismsEndocrinologyimmune system diseasesGenetic predispositionHumansGenetic Predisposition to Diseasesusceptibility genesHLA antigensgenetic linkGeneticslcsh:RC648-665Thyroiditis AutoimmuneFOXP3nutritional and metabolic diseasesAutoimmune polyendocrinopathyDiabetes Mellitus Type 1autoimmune thyroid diseaseFrontiers in Endocrinology
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