Normal allele: GG
The PTPN22 gene polymorphism associated with type 1 diabetes is related to the frequency of circulating regulatory T cells.
Polymorphism rs2292239 is related to topics like this:
Research and publications:
17554260 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
18423522 Estimating odds ratios in genome scans: an approximate conditional likelihood approach
18462017 Mapping the genetic architecture of gene expression in human liver.
18987646 The expanding genetic overlap between multiple sclerosis and type I diabetes.
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease
19140132 Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
19951419 Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis.
20351726 Whole-genome association mapping of gene expression in the human prefrontal cortex.
20549515 Genome-wide searching of rare genetic variants in WTCCC data.
20587799 Genetics of type 1 diabetes: what next?
20805105 Synthetic associations in the context of genome-wide association scan signals
21270831 Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population.
21559886 Polymorphisms in chromosome region 12q13 and their influence on age at onset of type 1 diabetes.
21826374 Selective IgA deficiency in autoimmune diseases.
21829393 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
21850031 Evidence for two independent associations with type 1 diabetes at the 12q13 locus.
21873553 Genetic analysis of adult-onset autoimmune diabetes.
25422107 Role of Type 1 Diabetes-Associated SNPs on Risk of Autoantibody Positivity in the TEDDY Study.
25530448 Evidence of ERBB3 gene association with rheumatoid arthritis predisposition.
26450151 The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus.
27331016 ERBB3-rs2292239 as primary type 1 diabetes association locus among non-HLA genes in Chinese.
27730450 Candidate gene studies of diabetic retinopathy in human.
27777593 Genetic and epigenetic studies of atopic dermatitis.
28738846 Long non-coding RNAs as novel players in β cell function and type 1 diabetes.
31467911 The Association between rs2292239 Polymorphism in ERBB3 Gene and Type 1 Diabetes: A Meta-Analysis.