Have questions? Visit https://www.reddit.com/r/SNPedia

rs7850258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Slightly lower odds of developing primary hypothyroidism.
(A;G) 1 Typical odds of developing primary hypothyroidism.
(G;G) 1.5 Slightly higher odds of developing primary hypothyroidism.
ReferenceGRCh38 38.1/141
Chromosome9
Position97786731
is asnp
is mentioned by
dbSNPrs7850258
ebirs7850258
HLIrs7850258
Exacrs7850258
Varsomers7850258
Maprs7850258
PheGenIrs7850258
hapmaprs7850258
1000 genomesrs7850258
hgdprs7850258
ensemblrs7850258
gopubmedrs7850258
geneviewrs7850258
scholarrs7850258
googlers7850258
pharmgkbrs7850258
gwascentralrs7850258
openSNPrs7850258
23andMers7850258
23andMe allrs7850258
SNP Nexus

SNPshotrs7850258
SNPdbers7850258
MSV3drs7850258
GWAS Ctlgrs7850258
GMAF0.2195
Max Magnitude1.5
? (A;A) (A;G) (G;G) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

GWAS snp
PMID [PMID 21981779OA-icon.png]
Trait
Title Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.
Risk Allele
P-val 4E-9
Odds Ratio 1.2300 None

rs7850258 is located on chromosome 9 and is 67 kb from the nearest gene, FOXE1. FOXE1, also known as thyroid transcription factor 2, is an intronless gene with a crucial role in thyroid morphogenesis. This SNP is associated with primary hypothyroidism. [PMID 21981779OA-icon.png] Primary hypothyroidism is the most common thyroid disorder, affecting 1-5% of the population, and is characterized by deficiencies of thyroid hormones T3 (triiodothyronine) and T4 (thyroxine). [PMID 22493691OA-icon.png]

Using electronic medical record-linked DNA biobanks, a study with 1,317 cases and 5,053 controls of European American ancestry identified rs7850258 to have the strongest association with hypothyroidism. The odds ratio for the minor allele A was 0.74 (p-value = 3.96 x 10-9). This SNP was in strong pair-wise linkage disequilibrium (r2 > 0.98) with three other SNPs 58-71 kb from FOXE1, rs965513, rs925489, and rs10759944. [PMID 21981779OA-icon.png]

This association was replicated in a GWAS of 3,736 cases and 35,546 controls with a similar odds ratio of 0.78 (95% confidence interval = 0.74-0.82) for the association of rs7850258 with hypothyroidism. All participants were customers of 23andMe, Inc and of mostly European ancestry. They also found five other variants significantly associated with hypothyroidism near FOXE1 (rs925489), PTPN22 (rs6679677), SH2B3 (rs3184504), VAV3 (rs4915077), and the HLA region (rs2517532). [PMID 22493691OA-icon.png]

[PMID 24270849OA-icon.png] rs7850258 was found to be associated with hypothyroidism based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.


[PMID 25652407] A Single Nucleotide Polymorphism Associated with Isolated Cleft Lip and Palate, Thyroid Cancer and Hypothyroidism Alters the Activity of an Oral Epithelium and Thyroid Enhancer Near FOXE1