Single nucleotide polymorphisms associated with type 1 diabetes are rs539514, rs478222, rs924043
FRIDAY, Sept. 30 (HealthDay News) -- Three new single nucleotide polymorphisms (SNPs) have been identified, which are significantly associated with type 1 diabetes (T1D) susceptibility, according to a study published online Sept. 29 in PLoS Genetics.
Jonathan P. Bradfield, from the Children's Hospital Philadelphia, and colleagues sought to identify additional genetic loci for T1D susceptibility by investigating approximately 2.54 million SNPs in the largest meta-analysis to date. Data were collected from a cohort of 9,934 patients with T1D and 16,956 controls.
The investigators identified three new loci associated with T1D that reached genome-wide significance on targeted follow-up of 53 SNPs in 1,120 affected trios. The most significantly associated SNP, rs539514, resides in an intronic region of LIM domain only 7 gene on 13q22. The SNP rs478222 is located on an intronic region of the protein EFR3 homolog B gene on 2p23, while the SNP rs924043 is located in an intergenic region on 6q27. The region of linkage disequilibrium was found to be nearly 800 kb for rs478222, which harbors additional genes, including NCOA1, C2orf79, CENPO, ADCY3, DNAJC27, POMC, and DNMT3A. The region of association in rs924043 was nearly 900 kb, harboring multiple genes, including WDR27, C6orf120, PHF10, TCTE3, C6orf208, LOC154449, DLL1, FAM120B, PSMB1, TBP, and PCD2.
"These latest associated regions add to the growing repertoire of gene networks predisposing to T1D," the authors write.