rs1121980

Chromosome : 16 , Position: 53775335

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: G

Alternative Alleles: A, C

Associated Genes

FTO

RPGRIP1L

IRX5

AKTIP

RBL2

IRX3

Traits

Trait	Variant	PMID	Author (year)
Ankle spacing width (right)	A	Unknown journal	UKB Neale v2 (2018)
Appendicular lean mass	A	Am J Hum Genet	Hernandez Cordero AI (2019)
Body mass index	A	Hum Mol Genet	Pulit SL (2018)
circulating leptin levels	A	Diabetes	Yaghootkar H (2020)
Waist-hip ratio [EA, men]	A	Nature	Shungin D (2015)
Waist-hip ratio [EA]	A	Nature	Shungin D (2015)
Waist-hip ratio [EA, women]	A	Nature	Shungin D (2015)
Male puberty timing (age at voice breaking MTAG)	A	Nat Commun	Hollis B (2020)
HDL cholesterol	A	Nat Genet	Willer CJ (2013)
"Diabetes, insuline treatment (Kela reimbursement)"	A	Unknown journal	FINNGEN_R5 (2021)
"Diabetes, insuline treatment (Kela reimbursement)" (more controls excluded)	A	Unknown journal	FINNGEN_R5 (2021)
Obesity due to excess calories	A	Unknown journal	FINNGEN_R5 (2021)

Summary

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: 1.37â€“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: 1.22â€“2.27) and 2.76 (CI: 1.88â€“4.03), respectively. [type-2 diabetes

rs1121980
rs7498665
rs4752856
rs17782313
rs2815752
rs10938397

[PMID 19322589] 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

[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

[PMID 22355368] Longitudinal Replication Studies of GWAS Risk SNPs Influencing Body Mass Index over the Course of Childhood and Adulthood

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

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

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

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

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

[PMID 20017965] 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 20017980] A multilevel linear mixed model of the association between candidate genes and weight and body mass index using the Framingham longitudinal family data.

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

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

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

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

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

[PMID 21115529] Genetics and genomics of human ageing.

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

[PMID 23935507] 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

[PMID 26445370] 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.

More Information

Showed the strongest association of several SNPs in the region with early onset obesity in a study of ~1,000 Caucasians.

T = Obesity, OR=1.66 (T) and 2.76 (TT) [R] [R]

T= Severe obesity in a study of 927 Japanese patients [R].

T= Obesity and type-2 diabetes [R].

Population Alleles Frequency

ethhicity frequency	A	C
African/African-American	0.479	–
Latino/Admixed American	0.3097	–
Ashkenazi Jewish	0.5694	–
East Asian	0.1699	–
European	0.4524	–
Other (population not assigned)	0.402	–

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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