rs72975913
This is a intron variant variant in the PTPRK gene.
▶Research that mentions this SNP (1)
▶The chromosome 6q22.33 region is associated with age at diagnosis of type 1 diabetes and disease risk in those diagnosed under 5 years of ageAssociationN=35,206Jamie R. J. Inshaw et al.(2018)· Diabetologia
This genome-wide association study identified two regions associated with age at diagnosis (AAD) of type 1 diabetes using ImmunoChip data from 15,696 cases: the MHC region (lead SNP rs9273363, p=2.16×10⁻³⁵) and the 6q22.33 region (lead SNP rs72975913, p=2.94×10⁻¹⁰, near PTPRK and THEMIS genes). The 6q22.33 region showed stronger association with early-onset type 1 diabetes (diagnosed <5 years, OR=0.78 for rs72975913), with a combined effect of 4.12 years younger diagnosis in homozygous carriers of both risk alleles.
About PTPRK
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]
View all PTPRK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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