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Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis

Background There is strong evidence suggesting that juvenile idiopathic arthritis (JIA) shares many susceptibility loci with other autoimmune diseases. Objective To investigate variants robustly associated with type 1 diabetes (T1D) or coeliac disease (CD) for association with JIA. Methods Sixteen s... Full description

Journal Title: Annals of the Rheumatic Diseases 2010, Vol.69 (12), p.2169-2172
Main Author: Hinks, Anne
Other Authors: Martin, Paul , Flynn, Edward , Eyre, Steve , Packham, Jon , Barton, Anne , Worthington, Jane , Thomson, Wendy
Format: Electronic Article Electronic Article
Language: English
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Publisher: London: BMJ Publishing Group Ltd and European League Against Rheumatism
ID: ISSN: 0003-4967
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title: Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis
format: Article
creator:
  • Hinks, Anne
  • Martin, Paul
  • Flynn, Edward
  • Eyre, Steve
  • Packham, Jon
  • Barton, Anne
  • Worthington, Jane
  • Thomson, Wendy
subjects:
  • 1506
  • Adapter proteins
  • Arthritis
  • Arthritis, Juvenile - genetics
  • Autoimmune diseases
  • Autoimmune Diseases - genetics
  • Biological and medical sciences
  • Case-Control Studies
  • Celiac disease
  • Celiac Disease - genetics
  • Clinical
  • Clinical and Epidemiological Research
  • Diabetes
  • Diabetes Mellitus, Type 1 - genetics
  • Diabetes. Impaired glucose tolerance
  • Disease
  • Diseases of the osteoarticular system
  • Endocrine pancreas. Apud cells (diseases)
  • Endocrinopathies
  • Epidemiological Research
  • Etiopathogenesis. Screening. Investigations. Target tissue resistance
  • Female
  • Gastroenterology. Liver. Pancreas. Abdomen
  • Gene Frequency
  • Genes
  • Genetic aspects
  • Genetic Predisposition to Disease
  • genetic structures
  • Genetic susceptibility
  • Genotype
  • Humans
  • immune system diseases
  • Inflammatory joint diseases
  • Juvenile arthritis
  • Male
  • Medical sciences
  • musculoskeletal diseases
  • Other diseases. Semiology
  • Polymorphism, Single Nucleotide
  • Quality control
  • Risk factors
  • Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
  • Studies
  • Type 1 diabetes
ispartof: Annals of the Rheumatic Diseases, 2010, Vol.69 (12), p.2169-2172
description: Background There is strong evidence suggesting that juvenile idiopathic arthritis (JIA) shares many susceptibility loci with other autoimmune diseases. Objective To investigate variants robustly associated with type 1 diabetes (T1D) or coeliac disease (CD) for association with JIA. Methods Sixteen single-nucleotide polymorphisms (SNPs) already identified as susceptibility loci for T1D/CD were selected for genotyping in patients with JIA (n=1054) and healthy controls (n=3129). Genotype and allele frequencies were compared using the Cochrane–Armitage trend test implemented in PLINK. Results One SNP in the LPP gene, rs1464510, showed significant association with JIA (ptrend=0.002, OR=1.18, 95% CI 1.06 to 1.30). A second SNP, rs653178 in ATXN2, also showed nominal evidence for association with JIA (ptrend=0.02, OR=1.13, 95% CI 1.02 to 1.25). The SNP, rs17810546, in IL12A showed subtype-specific association with enthesitis-related arthritis (ERA) subtype (ptrend=0.005, OR=1.88, 95% CI 1.2 to 2.94). Conclusions Evidence for a novel JIA susceptibility locus, LPP, is presented. Association at the SH2B3/ATXN2 locus, previously reported to be associated with JIA in a US series, also supports this region as contributing to JIA susceptibility. In addition, a subtype-specific association of IL12A with ERA is identified. All findings will require validation in independent JIA cohorts.
language: eng
source:
identifier: ISSN: 0003-4967
fulltext: no_fulltext
issn:
  • 0003-4967
  • 1468-2060
url: Link


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titleInvestigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis
creatorHinks, Anne ; Martin, Paul ; Flynn, Edward ; Eyre, Steve ; Packham, Jon ; Barton, Anne ; Worthington, Jane ; Thomson, Wendy
creatorcontribHinks, Anne ; Martin, Paul ; Flynn, Edward ; Eyre, Steve ; Packham, Jon ; Barton, Anne ; Worthington, Jane ; Thomson, Wendy ; Childhood Arthritis Prospective Study (CAPS), UKRAG Consortium, BSPAR study group
descriptionBackground There is strong evidence suggesting that juvenile idiopathic arthritis (JIA) shares many susceptibility loci with other autoimmune diseases. Objective To investigate variants robustly associated with type 1 diabetes (T1D) or coeliac disease (CD) for association with JIA. Methods Sixteen single-nucleotide polymorphisms (SNPs) already identified as susceptibility loci for T1D/CD were selected for genotyping in patients with JIA (n=1054) and healthy controls (n=3129). Genotype and allele frequencies were compared using the Cochrane–Armitage trend test implemented in PLINK. Results One SNP in the LPP gene, rs1464510, showed significant association with JIA (ptrend=0.002, OR=1.18, 95% CI 1.06 to 1.30). A second SNP, rs653178 in ATXN2, also showed nominal evidence for association with JIA (ptrend=0.02, OR=1.13, 95% CI 1.02 to 1.25). The SNP, rs17810546, in IL12A showed subtype-specific association with enthesitis-related arthritis (ERA) subtype (ptrend=0.005, OR=1.88, 95% CI 1.2 to 2.94). Conclusions Evidence for a novel JIA susceptibility locus, LPP, is presented. Association at the SH2B3/ATXN2 locus, previously reported to be associated with JIA in a US series, also supports this region as contributing to JIA susceptibility. In addition, a subtype-specific association of IL12A with ERA is identified. All findings will require validation in independent JIA cohorts.
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subject1506 ; Adapter proteins ; Arthritis ; Arthritis, Juvenile - genetics ; Autoimmune diseases ; Autoimmune Diseases - genetics ; Biological and medical sciences ; Case-Control Studies ; Celiac disease ; Celiac Disease - genetics ; Clinical ; Clinical and Epidemiological Research ; Diabetes ; Diabetes Mellitus, Type 1 - genetics ; Diabetes. Impaired glucose tolerance ; Disease ; Diseases of the osteoarticular system ; Endocrine pancreas. Apud cells (diseases) ; Endocrinopathies ; Epidemiological Research ; Etiopathogenesis. Screening. Investigations. Target tissue resistance ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Gene Frequency ; Genes ; Genetic aspects ; Genetic Predisposition to Disease ; genetic structures ; Genetic susceptibility ; Genotype ; Humans ; immune system diseases ; Inflammatory joint diseases ; Juvenile arthritis ; Male ; Medical sciences ; musculoskeletal diseases ; Other diseases. Semiology ; Polymorphism, Single Nucleotide ; Quality control ; Risk factors ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Studies ; Type 1 diabetes
ispartofAnnals of the Rheumatic Diseases, 2010, Vol.69 (12), p.2169-2172
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descriptionBackground There is strong evidence suggesting that juvenile idiopathic arthritis (JIA) shares many susceptibility loci with other autoimmune diseases. Objective To investigate variants robustly associated with type 1 diabetes (T1D) or coeliac disease (CD) for association with JIA. Methods Sixteen single-nucleotide polymorphisms (SNPs) already identified as susceptibility loci for T1D/CD were selected for genotyping in patients with JIA (n=1054) and healthy controls (n=3129). Genotype and allele frequencies were compared using the Cochrane–Armitage trend test implemented in PLINK. Results One SNP in the LPP gene, rs1464510, showed significant association with JIA (ptrend=0.002, OR=1.18, 95% CI 1.06 to 1.30). A second SNP, rs653178 in ATXN2, also showed nominal evidence for association with JIA (ptrend=0.02, OR=1.13, 95% CI 1.02 to 1.25). The SNP, rs17810546, in IL12A showed subtype-specific association with enthesitis-related arthritis (ERA) subtype (ptrend=0.005, OR=1.88, 95% CI 1.2 to 2.94). Conclusions Evidence for a novel JIA susceptibility locus, LPP, is presented. Association at the SH2B3/ATXN2 locus, previously reported to be associated with JIA in a US series, also supports this region as contributing to JIA susceptibility. In addition, a subtype-specific association of IL12A with ERA is identified. All findings will require validation in independent JIA cohorts.
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2Arthritis
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4Autoimmune diseases
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6Biological and medical sciences
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8Celiac disease
9Celiac Disease - genetics
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13Diabetes Mellitus, Type 1 - genetics
14Diabetes. Impaired glucose tolerance
15Disease
16Diseases of the osteoarticular system
17Endocrine pancreas. Apud cells (diseases)
18Endocrinopathies
19Epidemiological Research
20Etiopathogenesis. Screening. Investigations. Target tissue resistance
21Female
22Gastroenterology. Liver. Pancreas. Abdomen
23Gene Frequency
24Genes
25Genetic aspects
26Genetic Predisposition to Disease
27genetic structures
28Genetic susceptibility
29Genotype
30Humans
31immune system diseases
32Inflammatory joint diseases
33Juvenile arthritis
34Male
35Medical sciences
36musculoskeletal diseases
37Other diseases. Semiology
38Polymorphism, Single Nucleotide
39Quality control
40Risk factors
41Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
42Studies
43Type 1 diabetes
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titleInvestigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis
authorHinks, Anne ; Martin, Paul ; Flynn, Edward ; Eyre, Steve ; Packham, Jon ; Barton, Anne ; Worthington, Jane ; Thomson, Wendy
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8Celiac disease
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abstractBackground There is strong evidence suggesting that juvenile idiopathic arthritis (JIA) shares many susceptibility loci with other autoimmune diseases. Objective To investigate variants robustly associated with type 1 diabetes (T1D) or coeliac disease (CD) for association with JIA. Methods Sixteen single-nucleotide polymorphisms (SNPs) already identified as susceptibility loci for T1D/CD were selected for genotyping in patients with JIA (n=1054) and healthy controls (n=3129). Genotype and allele frequencies were compared using the Cochrane–Armitage trend test implemented in PLINK. Results One SNP in the LPP gene, rs1464510, showed significant association with JIA (ptrend=0.002, OR=1.18, 95% CI 1.06 to 1.30). A second SNP, rs653178 in ATXN2, also showed nominal evidence for association with JIA (ptrend=0.02, OR=1.13, 95% CI 1.02 to 1.25). The SNP, rs17810546, in IL12A showed subtype-specific association with enthesitis-related arthritis (ERA) subtype (ptrend=0.005, OR=1.88, 95% CI 1.2 to 2.94). Conclusions Evidence for a novel JIA susceptibility locus, LPP, is presented. Association at the SH2B3/ATXN2 locus, previously reported to be associated with JIA in a US series, also supports this region as contributing to JIA susceptibility. In addition, a subtype-specific association of IL12A with ERA is identified. All findings will require validation in independent JIA cohorts.
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