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rs613872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 2.5 ~20-30x higher risk for Fuchs' dystrophy, a corneal disorder
(G;T) 2.5 ~5 fold higher risk for Fuchs' dystrophy, a corneal disorder
(T;T) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome18
Position55543071
GeneTCF4
is asnp
is mentioned by
dbSNPrs613872
ebirs613872
HLIrs613872
Exacrs613872
Varsomers613872
Maprs613872
PheGenIrs613872
hapmaprs613872
1000 genomesrs613872
hgdprs613872
ensemblrs613872
gopubmedrs613872
geneviewrs613872
scholarrs613872
googlers613872
pharmgkbrs613872
gwascentralrs613872
openSNPrs613872
23andMers613872
23andMe allrs613872
SNP Nexus

SNPshotrs613872
SNPdbers613872
MSV3drs613872
GWAS Ctlgrs613872
GMAF0.0831
Max Magnitude2.5
rs613872 is an intronic SNP in the transcription factor 4 TCF4 gene on ch18q21.2.

[PMID 20825314] This GWAS study reported in 2010 the association between several independent TCF4 SNPs and Fuchs' dystrophy, including rs613872. They estimated the population attributable risk at about 60% for the rs613872 risk genotypes; in other words, barring other interactions, the relatively common minor allele rs613872(G) is associated with over half of all reported cases of Fuchs' dystrophy in the patient group studied. That does not mean it is causative, though; after all, ~30% of the CEU population carries this allele but the fraction developing Fuchs' dystrophy is less than 5%, so most rs613872(G) carriers are not diagnosed with the disorder.

[PMID 24270849OA-icon.png] rs613872 was found to be associated with Fuchs' dystrophy based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.

? (G;G) (G;T) (T;T) 28
GWAS snp
PMID [PMID 20825314]
Trait
Title E2-2 protein and Fuchs's corneal dystrophy
Risk Allele G
P-val 1E-18
Odds Ratio 5.47 [3.75-7.99]


[PMID 21245398OA-icon.png] Replication of the TCF4 Intronic Variant in Late-Onset Fuchs Corneal Dystrophy and Evidence of Independence from the FCD2 locus

OMIM613267
Desc
Variant
Relatedalso


[PMID 21659310] Association of TCF4 Gene Polymorphisms with Fuchs Corneal Dystrophy in the Chinese


[PMID 22146553] Role of the TCF4 Gene Intronic Variant in Normal Variation of Corneal Endothelium


[PMID 22234156OA-icon.png] Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.


[PMID 22321803OA-icon.png] Prevalence and severity of fuchs corneal dystrophy in Tangier Island.


[PMID 24255041OA-icon.png] Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy


[PMID 22998502] Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States.

rs17595731 is notable since variation here was observed in a SNPedia user with a family history of Fuchs' dystrophy. That location is not on any microarrays.


[PMID 24917144OA-icon.png] Mitochondrial Polymorphism A10398G and Haplogroup I are associated with Fuchs Endothelial Corneal Dystrophy


[PMID 26451375OA-icon.png] Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level