ArticleHuman mutation2014
A 129-kb deletion on chromosome 12 confers substantial protection against rheumatoid arthritis, implicating the gene SLC2A3.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population.Journal of clinical laboratory analysis · 2022Article
- Adult glut3 homozygous null mice survive to demonstrate neural excitability and altered neurobehavioral responses reminiscent of neurodevelopmental disorders.Experimental neurology · 2021Article
- Solute carrier transporters: the metabolic gatekeepers of immune cells.Acta pharmaceutica Sinica. B · 2020Review
- Influence of genetic copy number variants of the human GLUT3 glucose transporter geneMolecular genetics and metabolism reports · 2019Article
- Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease.PloS one · 2019Observational
- Neural Deletion of Glucose Transporter Isoform 3 Creates Distinct Postnatal and Adult Neurobehavioral Phenotypes.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- TheThe American journal of clinical nutrition · 2017Article
- Update on the genetic architecture of rheumatoid arthritis.Nature reviews. Rheumatology · 2017Review
- Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.American journal of medical genetics. Part A · 2016Article
- Recent Advances in Defining the Genetic Basis of Rheumatoid Arthritis.Annual review of genomics and human genetics · 2016Review
- SRBreak: A Read-Depth and Split-Read Framework to Identify Breakpoints of Different Events Inside Simple Copy-Number Variable Regions.Frontiers in genetics · 2016Article
- Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.American journal of human genetics · 2015Article
- Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease.Human molecular genetics · 2014Article
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
We describe a copy-number variant (CNV) for which deletion alleles confer a protective affect against rheumatoid arthritis (RA). This CNV reflects net unit deletions and expansions to a normal two-unit tandem duplication located on human chr12p13.31, a region with conserved synteny to the rat RA susceptibility quantitative trait loci Oia2. Genotyping, using the paralogue ratio test and SNP intensity data, in Swedish samples (2,403 cases, 1,269 controls) showed that the frequency of deletion variants is significantly lower in cases (P = 0.0012, OR = 0.442 [95%CI 0.258-0.755]). Reduced frequencies of deletion variants were also seen in replication materials comprising 9,201 UK samples (1,846 cases, 7,355 controls) and 2,963 US samples (906 controls, 1,967 cases) (Mantel-Haenszel P = 0.036, OR = 0.559 [95%CI 0.323-0.966]). Combining the three datasets produces a Mantel-Haenszel OR of 0.497 (P < 0.0002). The deletion variant lacks 129-kb of DNA containing SLC2A3, NANOGP1, and SLC2A14. SLC2A3 encodes a high-affinity glucose transporter important in the immune response and chondrocyte metabolism, both key aspects of RA pathogenesis. The large effect size of this association, its potential relevance to other diseases in which SLC2A3 is implicated, and the possibility of targeting drugs to inhibit SLC2A3, argue for further examination of the genetics and the biology of this CNV.
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