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rs1799852

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
(T;T) 2.5 lower serum transferrin levels
Make rs1799852(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position133756878
GeneTF
is asnp
is mentioned by
dbSNPrs1799852
ebirs1799852
HLIrs1799852
Exacrs1799852
Varsomers1799852
Maprs1799852
PheGenIrs1799852
hapmaprs1799852
1000 genomesrs1799852
hgdprs1799852
ensemblrs1799852
gopubmedrs1799852
geneviewrs1799852
scholarrs1799852
googlers1799852
pharmgkbrs1799852
gwascentralrs1799852
openSNPrs1799852
23andMers1799852
23andMe allrs1799852
SNP Nexus

SNPshotrs1799852
SNPdbers1799852
MSV3drs1799852
GWAS Ctlgrs1799852
GMAF0.1405
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 19084217OA-icon.png]
Trait Serum markers of iron status
Title Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
Risk Allele
P-val 0.000005
Odds Ratio 0.43 [0.25-0.61] SD decrease
OMIM190000
DescTRANSFERRIN; TF
Variant
Relatedalso
[PMID 16251468OA-icon.png] Survey of allelic expression using EST mining.

[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

[PMID 19673882OA-icon.png] A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.

[PMID 21978626OA-icon.png] potential markers of iron deficiency anaemia risk: two in the transferrin gene TF (rs3811647, rs1799852) and two in the HFE gene (C282Y, H63D), explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels.

http://www.nutritionandmetabolism.com/content/8/1/69

[PMID 19084217OA-icon.png] serum transferrin: Two SNPs on TF gene, rs1799852 (MAF 0.09), and rs2280673 (MAF 0.34), which were independently influencing variation in serum transferrin (nominal p = 4.7 × 10−6 and 2.3 × 10−4, respectively).

rs1799852 and rs2280673 were also associated with serum ferritin (p = 0.04 and 0.003) but not with serum iron or transferrin saturation.

These findings are potentially important for our understanding of iron metabolism and of regulation of hepatic protein secretion, and also strongly support the hypothesis that the genetic architecture of some endophenotypes may be simpler than that of disease.

[PMID 21978626OA-icon.png] potential markers of iron deficiency anaemia risk: two in the transferrin gene TF (rs3811647, rs1799852) and two in the HFE gene (C282Y, H63D), explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels.

http://www.nutritionandmetabolism.com/content/8/1/69

[PMID 19084217OA-icon.png] serum transferrin: Two SNPs on TF gene, rs1799852 (MAF 0.09), and rs2280673 (MAF 0.34), which were independently influencing variation in serum transferrin (nominal p = 4.7 × 10−6 and 2.3 × 10−4, respectively).

rs1799852 and rs2280673 were also associated with serum ferritin (p = 0.04 and 0.003) but not with serum iron or transferrin saturation.

These findings are potentially important for our understanding of iron metabolism and of regulation of hepatic protein secretion, and also strongly support the hypothesis that the genetic architecture of some endophenotypes may be simpler than that of disease.


GET Evidence
rs1799852
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0852389
summary



[PMID 24663082OA-icon.png] Influence of diet, menstruation and genetic factors on iron status: a cross-sectional study in Spanish women of childbearing age