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rs1049296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 C1 subtype of transferrin; common in clinvar
(C;T) 1.1 Heterozygote carrying both C1 and C2 transferrin subtypes; very slightly higher risk for Alzheimers
(T;T) 1.2 C2 transferrin subtype; very slightly higher risk for Alzheimers
ReferenceGRCh38 38.1/141
Chromosome3
Position133775510
GeneTF
is asnp
is mentioned by
dbSNPrs1049296
ebirs1049296
HLIrs1049296
Exacrs1049296
Varsomers1049296
Maprs1049296
PheGenIrs1049296
hapmaprs1049296
1000 genomesrs1049296
hgdprs1049296
ensemblrs1049296
gopubmedrs1049296
geneviewrs1049296
scholarrs1049296
googlers1049296
pharmgkbrs1049296
gwascentralrs1049296
openSNPrs1049296
23andMers1049296
23andMe allrs1049296
SNP Nexus

SNPshotrs1049296
SNPdbers1049296
MSV3drs1049296
GWAS Ctlgrs1049296
GMAF0.1488
Max Magnitude1.2

rs1049296, also known as Pro570Ser, is best known as the basis for the C1/C2 subtypes of the transferrin TF gene. The rs1049296(C) allele encodes the C1 subtype, and the rarer rs1049296(T) allele encodes the C2 subtype.

Involved in the transport of iron, transferrin and its subtypes have been linked at times to various conditions, perhaps most notably Alzheimer's disease. One meta-analyis of 19 studies with 6310 cases and 13661 controls concluded that the C2 allele, rs1049296(T), was associated with slightly increased risk for Alzheimer's, with odds ratios around 1.1-1.2.[PMID 23968943]

Pathogens may scavenge iron, and the body's attempts to sequester it from such pathogens are a form of defense termed nutritional immunity. One explanation for the presence of the C2 TF subtype in humans is that it may reduce the effectiveness of some bacterial transferrin binding proteins.10.1126/science.1259329[1]

? (C;C) (C;T) (T;T) 28
[PMID 20029940OA-icon.png] Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease
OMIM190000
Desc
Variant0004
Relatedalso
GWAS snp
PMID [PMID 21665994OA-icon.png]
Trait
Title Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
Risk Allele T
P-val 5E-43
Odds Ratio 0.2900 [0.25-0.33] unit decrease


ClinVar
Risk rs1049296(T;T)
Alt rs1049296(T;T)
Reference rs1049296(C;C)
Significance Other
Disease Transferrin variant c1/c2 Alzheimer disease
Variation info
Gene TF
CLNDBN Transferrin variant c1/c2 Alzheimer disease, susceptibility to
Reversed 0
HGVS NC_000003.11:g.133494354C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013451.23, RCV000013452.3,



[PMID 17357082OA-icon.png] Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.


[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 18795173OA-icon.png] Variants in iron metabolism genes predict higher blood lead levels in young children.


[PMID 18813964OA-icon.png] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.


[PMID 18830724OA-icon.png] Assessment of Alzheimer's disease case-control associations using family-based methods.


[PMID 19084216OA-icon.png] Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus.


[PMID 19165391OA-icon.png] Iron metabolism genes, low-level lead exposure, and QT interval.


[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 20574532OA-icon.png] Intermediate phenotypes identify divergent pathways to Alzheimer's disease.


[PMID 20659343OA-icon.png] HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.


GET Evidence
TF-P589S
aa_change Pro589Ser
aa_change_short P589S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.132088
summary



[PMID 23732512OA-icon.png] Effect modification by transferrin C2 polymorphism on lead exposure, hemoglobin levels, and IQ.


[PMID 24121126OA-icon.png] Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin