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rs1051792

From SNPedia

Orientationplus
Stabilizedplus
Make rs1051792(A;A)
Make rs1051792(A;G)
Make rs1051792(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position31411200
GeneMICA
is asnp
is mentioned by
dbSNPrs1051792
ebirs1051792
HLIrs1051792
Exacrs1051792
Varsomers1051792
Maprs1051792
PheGenIrs1051792
hapmaprs1051792
1000 genomesrs1051792
hgdprs1051792
ensemblrs1051792
gopubmedrs1051792
geneviewrs1051792
scholarrs1051792
googlers1051792
pharmgkbrs1051792
gwascentralrs1051792
openSNPrs1051792
23andMers1051792
23andMe allrs1051792
SNP Nexus

SNPshotrs1051792
SNPdbers1051792
MSV3drs1051792
GWAS Ctlgrs1051792
GMAF0.3655
Max Magnitude
? (A;A) (A;G) (G;G) 28
rs1051792, also known as MICA-129, Val129Met and V129M, is a G>A transition at residue 129 of the MHC class I polypeptide-related sequence A MICA gene.

It has been found in the same training cohort as above that the A allele in the patient and the donor (p=0.066 and 0.013) is associated with a reduced overall survival and an increased risk of relapse (p=0.007 and p=0.003). According to these results, the presence of the G allele in the patient associated with the incidence of cGvHD (p=0.002) and patients homozygous to the A allele had an increased risk of relapse (p=0.02). In contrast to HLA-E molecules, which are ligands for inhibitory NK receptors, MICA is ligand for activating NKG2D receptors. Patient who are homozygous for a valine at residue 129 of MICA are at higher risk of chronic GvHD after HLA-matched sibling HCT in comparison to patient who have a methionine at this position. This risk was independent of acute GvHD, suggesting that the residue 129 play a role in alloimmune responses and thus maybe protective against GvHD, (Boukouaci W, et al. 2009). MICA mismatching between patient and donor has a great influence on the clinical outcome because of the fact that MICA is polymorphic with over 84 recognized unique alleles (http://hla.alleles.org). According to two studies done to evaluate the role of mismatching MICA genes and risk of acute GvHD, it was shown that MICA mismatching was associated with an increased risk of grades II-IV acute GvHD but not grades III-IV acute GvHD in both HLA matched and mismatched transplant, and that was correlated notably with the GvHD of the GI tract (P=0.05). (Parmar S, et al. 2009), (Anderson E, et al. 2009).


[PMID 19409079OA-icon.png] Association of MICA with rheumatoid arthritis independent of known HLA-DRB1 risk alleles in a family-based and a case control study


[PMID 21702010] Role of the MICA polymorphism in systemic lupus erythematosus.


GET Evidence
MICA-V152M
aa_change Val152Met
aa_change_short V152M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.314162
summary