ArticleRheumatology international2015
GRID2 a novel gene possibly associated with mevalonate kinase deficiency.
Article in Rheumatology international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Frontiers in immunology · 2024Pooled it
- MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.Rheumatology international · 2018Article
- The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region.Scientific reports · 2017Article
- Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene.Frontiers in pediatrics · 2017Article
- Mevalonate kinase deficiency: current perspectives.The application of clinical genetics · 2016Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mevalonate kinase deficiency (MKD) is a rare autosomal disease caused by mutations in the mevalonate kinase gene (MVK). The genotype-phenotype correlation is sometimes problematic due to the great genetic and clinical heterogeneity; so we hypothesize that genes other than MVK are able to modulate MKD clinical phenotypes. This hypothesis was tested by analyzing the exome of 22 patients with MKD all carrying MVK gene mutations, and 20 patients with recurrent fevers (RF) not carrying MVK mutations. Our preliminary findings suggest a possible role of GRID2 in the susceptibility to develop MKD. GRID2 gene (4q22.2), encoding for human glutamate receptor delta-2, associated with MKD: The rs1450500 SNP was differently distributed in patients with MKD with respect to those with RF. Being aware of the small number of patients analyzed, we hypothesized a possible role for GRID2 as possible phenotype modifier in MKD patients, especially in those with severe phenotypes.
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