ArticleGenes and immunity2009
rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.
Article in Genes and immunity, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Single-cell expression and Mendelian randomization analyses identify blood genes associated with lifespan and chronic diseases.Communications biology · 2020Article
- Host Genetics at the Intersection of Autoimmunity and COVID-19: A Potential Key for Heterogeneous COVID-19 Severity.Frontiers in immunology · 2020Review
- Type 1 diabetes: A predictable disease.World journal of diabetes · 2015Review
- Tyrosine phosphatase PTPN22: multifunctional regulator of immune signaling, development, and disease.Annual review of immunology · 2014Review
- Improving power of genome-wide association studies with weighted false discovery rate control and prioritized subset analysis.PloS one · 2012Article
- From markers to molecular mechanisms: type 1 diabetes in the post-GWAS era.The review of diabetic studies : RDS · 2012Review
- The past, present, and future of genetic associations in type 1 diabetes.Current diabetes reports · 2011Review
- Replication and further characterization of a Type 1 diabetes-associated locus at the telomeric end of the major histocompatibility complex.Journal of diabetes · 2011Article
- Genetics of type 1 diabetes.Clinical chemistry · 2011Review
- The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp.PloS one · 2010Article
- Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases.Seminars in immunopathology · 2010Review
- Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.Genes and immunity · 2009Article
- Overview of the Type I Diabetes Genetics Consortium.Genes and immunity · 2009Article
- The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.Genes and immunity · 2009Article
- PTPN22 1858 C/T Exon Polymorphism is not Associated with Graves' Disease in Kashmiri population.Indian journal of endocrinology and metabolismArticle
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Authors and funding
13 authors.
Funding
Abstract
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is the third major locus affecting risk of type I diabetes (T1D), after HLA-DR/DQ and INS. The most associated single-nucleotide polymorphism (SNP), rs2476601, has a C->T variant and results in an arginine (R) to tryptophan (W) amino acid change at position 620. To assess whether this, or other specific variants, are responsible for T1D risk, the Type I Diabetes Genetics Consortium analyzed 28 PTPN22 SNPs in 2295 affected sib-pair (ASP) families. Transmission Disequilibrium Test analyses of haplotypes revealed that all three haplotypes with a T allele at rs2476601 were overtransmitted to affected children, and two of these three haplotypes showed statistically significant overtransmission (P=0.003 to P=5.9E-12). Another haplotype had decreased transmission to affected children (P=3.5E-05). All haplotypes containing the rs2476601 T allele were identical for all SNPs across PTPN22 and only varied at centromeric SNPs. When considering rs2476601 'C' founder chromosomes, a second haplotype (AGGGGC) centromeric of PTPN22 in the C1orf178 region was associated with protection from T1D (odds ratio=0.81, P=0.0005). This novel finding requires replication in independent populations. We conclude the major association of PTPN22 with T1D is likely due to the recognized non-synonymous SNP rs2476601 (R620W).
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