Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap

Autor: Hinks, A, Cobb, J, Sudman, M, Eyre, S, Martin, P, Flynn, E, Packham, J, Barton, A, Worthington, J, Langefeld, CD, Glass, DN, Thompson, SD, Thomson, W, Baildam, E, Brown, L, Buckley, J, Chieng, A, Davidson, J, Eltringham, M, Foster, H, Friswell, M, Gardner-Medwin, J, Gilbert, P, Hyrich, K, Jones, J, Lal, S, Lay, M, Lydon, C, Meijer, A, Price, V, Sim, J, Todd, M, Ward, P, Wedderburn, L, Bowes, J, Martin, S, Robinson, JI, Morgan, AW, Emery, P, Wilson, AG, Steer, S, Hocking, L, Reid, DM, Harrison, P, Wordsworth, P, Abinum, M, Becker, M, Bell, A, Craft, A, Crawley, E, David, J, Griffin, J, Hall, A, Hall, M, Herrick, A, Hollingworth, P, Holt, L, Jones, S, Pountain, G, Ryder, C, Southwood, T, Stewart, I, Venning, H, Woo, P, Wyatt, S
Jazyk: angličtina
Rok vydání: 2012
Předmět:
musculoskeletal diseases
medicine.medical_specialty
genetic structures
Adolescent
CD3 Complex
Genotype
Immunology
Arthritis
Single-nucleotide polymorphism
Genome-wide association study
Polymorphism
Single Nucleotide

General Biochemistry
Genetics and Molecular Biology

03 medical and health sciences
0302 clinical medicine
Rheumatology
Gene Frequency
immune system diseases
Internal medicine
medicine
Immunology and Allergy
SNP
Humans
Genetic Predisposition to Disease
skin and connective tissue diseases
Child
Allele frequency
030304 developmental biology
030203 arthritis & rheumatology
0303 health sciences
Protein Tyrosine Phosphatase
Non-Receptor Type 2

business.industry
Interleukin-2 Receptor alpha Subunit
Clinical and Epidemiological Research
medicine.disease
eye diseases
Arthritis
Juvenile

Rheumatoid arthritis
Child
Preschool

Cohort
Disease Progression
business
Genome-Wide Association Study
Zdroj: Annals of the Rheumatic Diseases
ISSN: 1468-2060
0003-4967
Popis: OBJECTIVES: Rheumatoid arthritis (RA) shares some similar clinical and pathological features with juvenile idiopathic arthritis (JIA); indeed, the strategy of investigating whether RA susceptibility loci also confer susceptibility to JIA has already proved highly successful in identifying novel JIA loci. A plethora of newly validated RA loci has been reported in the past year. Therefore, the aim of this study was to investigate these single nucleotide polymorphisms (SNP) to determine if they were also associated with JIA. METHODS: Thirty-four SNP that showed validated association with RA and had not been investigated previously in the UK JIA cohort were genotyped in JIA cases (n=1242), healthy controls (n=4281), and data were extracted for approximately 5380 UK Caucasian controls from the Wellcome Trust Case-Control Consortium 2. Genotype and allele frequencies were compared between cases with JIA and controls using PLINK. A replication cohort of 813 JIA cases and 3058 controls from the USA was available for validation of any significant findings. RESULTS: Thirteen SNP showed significant association (p
Databáze: OpenAIRE