The pharmacogenomics journal, 2020-02, Vol.20 (1), p.80-86
2020
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- Autor(en) / Beteiligte
- Titel
- Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis
- Ist Teil von
- The pharmacogenomics journal, 2020-02, Vol.20 (1), p.80-86
- Ort / Verlag
- London: Nature Publishing Group UK
- Erscheinungsjahr
- 2020
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Kawasaki disease (KD) is a systemic vasculitis affecting infants and children; it manifests as fever and signs of mucocutaneous inflammation. Intravenous immunoglobulin (IVIG) treatment effectively attenuates the fever and systemic inflammation. However, 10–20% patients are unresponsive to IVIG. To identify genetic variants influencing IVIG non-response in KD, a genome-wide association study (GWAS) and a replication study were performed using a total of 148 IVIG non-responders and 845 IVIG-responders in a Korean population. rs28662 in the sterile alpha motif domain-containing protein 9-like ( SAMD9L ) locus showed the most significant result in the joint analysis of GWAS and replication samples (odds ratio (OR) = 3.47, P = 1.39 × 10 −5 ). The same SNP in the SAMD9L locus was tested in the Japanese population, and it revealed a more significant association in a meta-analysis with Japanese data (OR = 4.30, P = 5.30 × 10 −6 ). These results provide new insights into the mechanism of IVIG response in KD.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1470-269XeISSN: 1473-1150DOI: 10.1038/s41397-019-0085-1Titel-ID: cdi_proquest_miscellaneous_2207939817
- Format
- –
- Schlagworte
- 45/43, 631/208/205, 692/499, Analysis, Association analysis, Biomedical and Life Sciences, Biomedicine, Child, Disease resistance, Disease susceptibility, Drug Resistance - drug effects, Drug Resistance - genetics, Female, Fever, Gene Expression, Genetic diversity, Genetic Loci - genetics, Genetic Predisposition to Disease - epidemiology, Genetic Predisposition to Disease - genetics, Genetic variance, Genome-wide association studies, Genome-Wide Association Study - methods, Genomes, Genomics, Human Genetics, Humans, Immunoglobulins, Immunoglobulins, Intravenous - administration & dosage, Infants, Inflammation, Intravenous administration, Kawasaki disease, Male, Mucocutaneous lymph node syndrome, Mucocutaneous Lymph Node Syndrome - drug therapy, Mucocutaneous Lymph Node Syndrome - epidemiology, Mucocutaneous Lymph Node Syndrome - genetics, Oncology, Pharmacotherapy, Psychopharmacology, Pumping machinery industry, Replication, Single-nucleotide polymorphism, Susceptibility, Systemic vasculitis, Tumor Suppressor Proteins - genetics