rs156429
This is a intron variant variant in the GPNMB gene.
▶Research that mentions this SNP (2)
▶SNCA rs356219 variant increases risk of sporadic Parkinson's disease in ethnic ChineseAssociationN=145,932Nan‐Nan Li et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This is a German dissertation containing two peer-reviewed association studies on Parkinson's disease genetics. The first study found EIF4G1 is neither a strong nor common PD risk factor in European cohorts (2146 patients), with the p.Arg1205His variant showing no significant association (OR=1.3, p=0.50) in Icelandic population. The second study demonstrated heterozygous PARK2 CNV carriers have increased PD risk in Iceland (1415 cases vs 40474 controls, OR=1.7, p=0.03), supported by meta-analysis.
▶Clinical Features of Parkinson Disease Patients With Homozygous Leucine-Rich Repeat Kinase 2 G2019S MutationsAssociationN=95,844Lianna Ishihara et al.(2006)· Archives of Neurology
Large European association study evaluating EIF4G1 mutations in Parkinson's disease across 2,146 PD patients and 93,698 Icelandic population samples. The p.Arg1205His variant (rs112176450) showed no significant association with PD risk (OR=1.3, p=0.50), and p.Ala502Val was not detected. The study concludes EIF4G1 is neither a strong nor common PD risk factor and should not be recommended for clinical diagnostic testing.
About GPNMB
The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all GPNMB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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