Ontology highlight
ABSTRACT:
SUBMITTER: Sutherland A
PROVIDER: S-EPMC6952273 | biostudies-literature | 2007 Aug
REPOSITORIES: biostudies-literature
Sutherland Alison A Davies Jocelyn J Owen Catherine J CJ Vaikkakara Suresh S Walker Christine C Cheetham Timothy D TD James R Andrew RA Perros Petros P Donaldson Peter T PT Cordell Heather J HJ Quinton Richard R Pearce Simon H S SH
The Journal of clinical endocrinology and metabolism 20070529 8
<h4>Context</h4>A recent large-scale analysis of nonsynonymous coding polymorphisms showed strong evidence that an alanine to threonine amino acid change at codon 946 of the interferon-induced helicase (IFIH1) gene (SNP ID rs1990760) was associated with type 1 diabetes. Previous investigations have also demonstrated that an intronic polymorphism (termed PD1.3; SNP ID rs11568821) in the programmed cell death (PDCD1) gene was associated with systemic lupus erythematosus and rheumatoid arthritis.<h ...[more]