rs1858830
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | 2x risk of autism reported by some (but not other) publications |
| (C;G) | 1.6 | 1.6x increased autism risk |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 116672385 |
| Gene | MET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1858830 |
| dbSNP (classic) | rs1858830 |
| ClinGen | rs1858830 |
| ebi | rs1858830 |
| HLI | rs1858830 |
| Exac | rs1858830 |
| Gnomad | rs1858830 |
| Varsome | rs1858830 |
| LitVar | rs1858830 |
| Map | rs1858830 |
| PheGenI | rs1858830 |
| Biobank | rs1858830 |
| 1000 genomes | rs1858830 |
| hgdp | rs1858830 |
| ensembl | rs1858830 |
| geneview | rs1858830 |
| scholar | rs1858830 |
| rs1858830 | |
| pharmgkb | rs1858830 |
| gwascentral | rs1858830 |
| openSNP | rs1858830 |
| 23andMe | rs1858830 |
| SNPshot | rs1858830 |
| SNPdbe | rs1858830 |
| MSV3d | rs1858830 |
| GWAS Ctlg | rs1858830 |
| GMAF | 0.4977 |
| Max Magnitude | 2 |
rs1858830, located in promoter of the MET gene, was originally reported in 2006 as being linked to a 2x increase in the risk of autism based on a study of ~700 families.[PMID 17053076
] From OMIM 164860: "In case-control analysis, the relative risk for autism was 2.27 for the CC genotype and 1.67 for the GC genotype compared to the GG genotype."
However, since 2006, there have been several studies unable to replicate this association, as well as some replicating the finding, at least to varying degrees. These include:
- Those replicating to some degree the association with autism:
- [PMID 19360663
]: 2008 study with 100 families, from the same group that published the original 2006 association - [PMID 19681062]: 2009 study, reports odds ratio of 1.64 for C allele for autism association
- [PMID 19360663
- Those finding no association of rs1858830 to autism:
- [PMID 19002214]: 2009 study with 300+ families
- [PMID 20615438]: 2010 study of 126 Japanese families
- [PMID 22110649]: 2011 study of Chinese families
- [PMID 19002214
[PMID 19002214] The association of rs1858830 in the MET gene with autism failed to replicate in 325 multiplex families and 10 trios of the International Molecular Genetic Study of Autism Consortium (IMGSAC), although another MET SNP did associate with autism (rs38845)
[PMID 19360663] Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder
[PMID 19548256] Association of MET with social and communication phenotypes in individuals with autism spectrum disorder
[PMID 19681062] Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with Autistic disorder
[PMID 22110649] Replication of the Association of a MET Variant with Autism in a Chinese Han Population
[PMID 17696172] Disruption of cerebral cortex MET signaling in autism spectrum disorder.
[PMID 19255034] Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions.
[PMID 20080979] Association of genetic variation in the MET proto-oncogene with schizophrenia and general cognitive ability.
[PMID 20615438] Further evidence for the role of MET in autism susceptibility.
| ClinVar | |
|---|---|
| Risk | Rs1858830(G;G) |
| Alt | Rs1858830(G;G) |
| Reference | Rs1858830(C;C) |
| Significance | Unknown |
| Disease | Autism 9 |
| Variation | info |
| Gene | MET |
| CLNDBN | Autism 9 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.116312439C\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014905.3, |
[PMID 29255778] Differential impact of Met receptor gene interaction with early-life stress on neuronal morphology and behavior in mice.
