rs919581
This is a intron variant variant in the PTN gene.
▶Research that mentions this SNP (1)
▶Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosusAssociationN=10,543Paula S. Ramos et al.(2011)· Arthritis & Rheumatism
A three-stage genetic association study of interferon pathway-related genes identifies multiple novel loci associated with systemic lupus erythematosus (SLE). The study evaluated 1,754 genes in two discovery/replication cohorts (939 SLE cases, 3,398 controls) with confirmation in an independent cohort. Novel confirmed associations include CD44 (rs507230, P = 3.98×10⁻¹², OR = 0.71), pleiotrophin/PTN (rs919581, P = 5.38×10⁻⁴), DNAJA1 (rs10971259, P = 6.31×10⁻³), and KPNA1 (rs6810306, P = 4.91×10⁻²).
About PTN
The protein encoded by this gene is a secreted heparin-binding growth factor. The protein has significant roles in cell growth and survival, cell migration, angiogenesis and tumorigenesis. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
View all PTN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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