rs753305744
This variant is located in the EIF4G1 gene.
▶ClinVar annotation
▶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 EIF4G1
The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010]
View all EIF4G1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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