0000000000407791

AUTHOR

Yaron Tomer

showing 2 related works from this author

Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes

2015

Autoimmune thyroid diseases (AITD) and Type 1 diabetes (T1D) frequently occur in the same individual pointing to a strong shared genetic susceptibility. Indeed, the co-occurrence of T1D and AITD in the same individual is classified as a variant of the autoimmune polyglandular syndrome type 3 (designated APS3v). Our aim was to identify new genes and mechanisms causing the co-occurrence of T1D + AITD (APS3v) in the same individual using a genome-wide approach. For our discovery set we analyzed 346 Caucasian APS3v patients and 727 gender and ethnicity matched healthy controls. Genotyping was performed using the Illumina Human660W-Quad.v1. The replication set included 185 APS3v patients and 340…

Linkage disequilibriumT-LymphocytesImmunologyLocus (genetics)Genome-wide association studyHuman leukocyte antigenBiologyArticleLinkage DisequilibriumAutoimmune thyroiditisGenetic predispositionmedicineHumansImmunology and AllergyCTLA-4 AntigenGenetic Predisposition to DiseaseCD40 AntigensPolyendocrinopathies AutoimmuneGenotypingGenetic associationGeneticsB-LymphocytesHistocompatibility Antigens Class IHistocompatibility Antigens Class IIThyroiditis AutoimmuneProtein Tyrosine Phosphatase Non-Receptor Type 22medicine.diseaseDiabetes Mellitus Type 1ImmunologyGenome-Wide Association StudyJournal of Autoimmunity
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Precision Medicine in Graves’ Disease: CD40 Gene Variants Predict Clinical Response to an Anti-CD40 Monoclonal Antibody

2021

BackgroundCD40, a key co-stimulatory molecule expressed on antigen-presenting cells, is genetically associated with a number of autoimmune diseases including Graves’ disease (GD). Therefore, recent therapies targeting CD40 have been developed, including the anti-CD40 monoclonal antibody Iscalimab. In a recent pilot study, Iscalimab was shown to induce clinical remission in ~ 50% of GD patients, but the reason why only 50% of GD patients responded is not known. The aim of our study was to test the hypothesis that specific CD40 single nucleotide polymorphism (SNP) genotypes and haplotypes are associated with clinical response of GD patients to Iscalimab.MethodsWe extracted genomic DNA from th…

AdultMaleGenotypemedicine.drug_classprecision medicineEndocrinology Diabetes and MetabolismGraves' diseaseSingle-nucleotide polymorphismmedicine.disease_causeMonoclonal antibodyPolymorphism Single NucleotideDiseases of the endocrine glands. Clinical endocrinologyAutoimmunityYoung AdultEndocrinologyGenotypeCD40HumansMedicineSNPRNA MessengerCD40 AntigensgeneGeneAgedOriginal Researchbusiness.industryHaplotypeAntibodies MonoclonalMiddle AgedRC648-665medicine.diseaseGraves DiseasevariantImmunologyFemaleGraves’ diseasebusinessFrontiers in Endocrinology
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