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rs1121980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 average
(C;T) 2.5 1.67x risk for obesity
(T;T) 3 2.76x risk for obesity
ReferenceGRCh38 38.1/141
Chromosome16
Position53775335
GeneFTO
is asnp
is mentioned by
dbSNPrs1121980
ebirs1121980
HLIrs1121980
Exacrs1121980
Varsomers1121980
Maprs1121980
PheGenIrs1121980
hapmaprs1121980
1000 genomesrs1121980
hgdprs1121980
ensemblrs1121980
gopubmedrs1121980
geneviewrs1121980
scholarrs1121980
googlers1121980
pharmgkbrs1121980
gwascentralrs1121980
openSNPrs1121980
23andMers1121980
23andMe allrs1121980
SNP Nexus

SNPshotrs1121980
SNPdbers1121980
MSV3drs1121980
GWAS Ctlgrs1121980
GMAF0.3682
Max Magnitude3
? (C;C) (C;T) (T;T) 28
rs1121980, a SNP in the FTO gene, showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians.

The odds ratio for the rs1121980(T) risk allele was 1.66 (CI: 1.37–2.01); and the odds ratios for heterozygotes and homozygotes (rs1121980(T;T)) were estimated (with a correct p<0.0001) at 1.67 (CI: 1.22–2.27) and 2.76 (CI: 1.88–4.03), respectively. [PMID 18159244OA-icon.png]

Note that although rs1121980 showed the strongest association, it is in a block in the FTO gene of at least 5 other SNPs that are in linkage disequilibrium (r2>=0.88 for all). The other 5 SNPs are:

[PMID 18379722OA-icon.png] This SNP is also associated with (severe) obesity in a study of 927 Japanese patients.

[PMID 19164386OA-icon.png] obesity and type-2 diabetes

Neighborrs1477196
Distance989
GWAS snp
PMID [PMID 18454148OA-icon.png]
Trait Body mass index
Title Common variants near MC4R are associated with fat mass, weight and risk of obesity
Risk Allele
P-val 4.0000000000000001E-8
Odds Ratio 0.06 [0.04-0.08] unit increase in log(BMI)

[PMID 19322589OA-icon.png] Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study


[PMID 19553294] Physical activity attenuates the body mass index-increasing influence of genetic variation in the FTO gene

OMIM612460
DescBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14
Variant
Relatedalso



[PMID 19812171] Cumulative effects and predictive value of common obesity-susceptibility variants identified by genome-wide association studies


[PMID 20075932] Association of gene polymorphism of the fat-mass and obesity-associated gene with insulin resistance in Japanese


[PMID 21248185] Obesity-susceptibility loci have a limited influence on birth weight: a meta-analysis of up to 28,219 individuals

OMIM601665
Desc
Variant
Relatedalso
[PMID 22355368OA-icon.png] Longitudinal Replication Studies of GWAS Risk SNPs Influencing Body Mass Index over the Course of Childhood and Adulthood


[PMID 18256137OA-icon.png] Regulation of Fto/Ftm gene expression in mice and humans.


[PMID 18487448OA-icon.png] Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population.


[PMID 18599522OA-icon.png] FTO variants are associated with obesity in the Chinese and Malay populations in Singapore.


[PMID 19079261OA-icon.png] Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 20017965OA-icon.png] Identifying association under a previous linkage peak on chromosome 16 for body mass index using cross-sectional and longitudinal data of the Framingham Heart Study.


[PMID 20017980OA-icon.png] A multilevel linear mixed model of the association between candidate genes and weight and body mass index using the Framingham longitudinal family data.


[PMID 20018076OA-icon.png] Tests for candidate-gene interaction for longitudinal quantitative traits measured in a large cohort.


[PMID 20299471OA-icon.png] FTO genetic variation and association with obesity in West Africans and African Americans.


[PMID 20442772OA-icon.png] Common SNPs in FTO gene are associated with obesity related anthropometric traits in an island population from the eastern Adriatic coast of Croatia.


[PMID 20824172OA-icon.png] Physical activity attenuates the genetic predisposition to obesity in 20,000 men and women from EPIC-Norfolk prospective population study.


[PMID 21102551OA-icon.png] Analysis of FTO gene variants with obesity and glucose homeostasis measures in the multiethnic Insulin Resistance Atherosclerosis Study cohort.


[PMID 21115529OA-icon.png] Genetics and genomics of human ageing.


[PMID 22049296OA-icon.png] A high intake of saturated fatty acids strengthens the association between the fat mass and obesity-associated gene and BMI.


GET Evidence
rs1121980
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.468254
summary



[PMID 23935507OA-icon.png] Gene × physical activity interactions in obesity: combined analysis of 111,421 individuals of European ancestry


[PMID 24106974] Association between fat mass and obesity-associated (FTO) gene and hip fracture susceptibility

GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait HDL cholesterol
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele A
P-val 7E-9
Odds Ratio .02 [NR] unit decrease


[PMID 26445370OA-icon.png] Genetic Effects on Longitudinal Changes from Healthy to Adverse Weight and Metabolic Status - The HUNT Study


[PMID 26726774] Gender-Dependent Association of FTO Polymorphisms with Body Mass Index in Mexicans.


[PMID 26843521] A comprehensive meta-analysis of case-control association studies to evaluate polymorphisms associated with the risk of differentiated thyroid carcinoma.


[PMID 26935496] The Frequencies of Haplotypes of FTO Gene Variants and Their Association with the Distribution of Body Fat in Non-Obese Poles.


[PMID 27820839] FTO Gene Polymorphism Is Associated with Type 2 Diabetes through Its Effect on Increasing the Maximum BMI in Japanese Men.