rs543874

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (21)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body weight

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.04

p 5.0e-165

N 928,679

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.04

p 2.0e-91

N 525,535

Large GWAS

multi-ancestry

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.05

p 8.0e-58

N 425,537

Major Consortium StudyLarge GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.04

p 2.0e-80

N 394,642

Large GWAS

European

comparative body size at age 10, self-reported

Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)

Allele A

OR 0.05

p 6.0e-163

N 453,169

Large GWAS

European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele G

OR 0.04

p 7.0e-152

N 1,122,049

Large GWAS

European

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)

Allele G

OR 0.05

p 3.0e-125

N 806,834

Meta-analysisLarge GWAS

European

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele G

OR 0.05

p 9.0e-125

N 694,649

Large GWAS

European

Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)

Allele G

OR 0.05

p 5.0e-105

N 650,000

Large GWAS

European

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.05

p 2.0e-42

N 607,387

Major Consortium StudyLarge GWAS

multi-ancestry

Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)

Allele G

OR 0.06

p 2.0e-115

N 441,761

Large GWAS

European

Hoffmann TJ et al. “A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.” Genetics 210(2):499-515 (2018)

Allele G

OR —

β 0.048

p 4.0e-52

N 334,487

Large GWAS

multi-ancestry

Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)

Allele G

OR —

β 0.049

p 3.0e-46

N 309,889

Large GWAS

European

Locke AE et al. “Genetic studies of body mass index yield new insights for obesity biology.” Nature 518(7538):197-206 (2015)

Allele G

OR 0.06

p 1.0e-33

N 238,944

Large GWAS

multi-ancestry

Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)

Allele G

OR 0.05

p 7.0e-62

N 158,284

Large GWAS

multi-ancestry

Speliotes EK et al. “Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.” Nature Genetics 42(11):937-48 (2010)

Allele G

OR 0.22

p 4.0e-23

N 123,865

Large GWAS

European

Wood AR et al. “Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.” Diabetologia 59(6):1214-21 (2016)

Allele G

OR 0.05

p 2.0e-22

N 119,688

Large GWAS

European

Gong J et al. “Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI.” International Journal of Obesity (2005) 42(3):384-390 (2018)

Allele G

OR 0.01

p 1.0e-21

N 102,514

Large GWAS

multi-ancestry

Zhang X et al. “Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele.” Nature Communications 16(1):3470 (2025)

Allele G

OR 0.06

p 1.0e-26

N 88,873

Large GWAS

multi-ancestry

Downie CG et al. “Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects.” Hgg Advances 6(2):100411 (2025)

Allele G

OR 0.07

p 6.0e-27

N 84,840

Large GWAS

multi-ancestry

Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)

Allele G

OR 0.05

p 1.0e-9

N 56,161

Major Consortium StudyLarge GWAS

Hispanic or Latin American

Ng MCY et al. “Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.” Plos Genetics 13(4):e1006719 (2017)

Allele G

OR 0.06

p 6.0e-46

N 42,752

Major Consortium StudyLarge GWAS

multi-ancestry

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)

Allele G

OR 0.07

p 1.0e-8

N 42,543

Meta-analysisLarge GWAS

multi-ancestry

Vogelezang S et al. “Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.” Plos Genetics 16(10):e1008718 (2020)

Allele G

OR 0.08

p 2.0e-15

N 39,620

Large GWAS

European

Monda KL et al. “A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.” Nature Genetics 45(6):690-6 (2013)

Allele G

OR 0.06

p 2.0e-13

N 39,144

Meta-analysisLarge GWAS

multi-ancestry

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)

Allele G

OR 0.06

p 2.0e-12

N 38,595

Meta-analysisLarge GWAS

multi-ancestry

Felix JF et al. “Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.” Human Molecular Genetics 25(2):389-403 (2016)

Allele G

OR 0.08

p 2.0e-19

N 34,744

Large GWAS

European

Graff M et al. “Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.” Human Molecular Genetics 22(17):3597-607 (2013)

Allele G

OR 0.08

p 4.0e-11

N 13,627

Large GWAS

European

hip circumference

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.04

p 3.0e-68

N 394,642

Large GWAS

European

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)

Allele G

OR 0.04

p 2.0e-23

N 143,480

Large GWAS

multi-ancestry

whole body water mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 2.0e-62

N 394,642

Large GWAS

European

fat pad mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.04

p 7.0e-59

N 394,642

Large GWAS

European

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele G

OR 0.05

p 2.0e-55

N 337,196

Large GWAS

European

physical activity measurement, body mass index

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)

Allele G

OR 0.05

p 2.0e-34

N 161,368

Meta-analysisLarge GWAS

multi-ancestry

waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)

Allele A

OR 0.02

p 8.0e-22

N 316,772

Meta-analysisLarge GWAS

European

obesity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.05

p 2.0e-20

N 585,585

Major Consortium StudyLarge GWAS

multi-ancestry

grip strength measurement

Tikkanen E et al. “Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank.” Scientific Reports 8(1):6451 (2018)

Allele G

OR 0.00

p 4.0e-20

N 223,215

Major Consortium StudyLarge GWAS

European

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Research that mentions this SNP (4)

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Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight

ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes

PubMed DOI Metascience Observatory

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Association of the LINGO2-related SNP rs10968576 with body mass in a cohort of elderly Swedes

AssociationN=949Mathias Rask-Andersen et al.(2015)· Molecular Genetics and Genomics

Association study of 35 GWAS-identified body mass SNPs in 949 elderly Swedish participants (mean age 70-75 years). Significant association found between rs10968576 (LINGO2, intron 4) and BMI with a larger effect size (β = 0.69 kg/m²) than reported in younger populations, suggesting age-specific genetic effects on body mass in the elderly.

Traits studied:Body Mass IndexBody adiposityObesityOverweight

PubMed DOI Metascience Observatory

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Common obesity risk alleles in childhood attention‐deficit/hyperactivity disorder

AssociationN=4,415Özgür Albayrak et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study examined whether 32 obesity-associated genetic risk alleles are associated with childhood ADHD in a German GWAS sample (495 cases, 1,300 controls) and a meta-analysis (2,064 trios, 896 cases, 2,455 controls). The obesity risk allele G at rs206936 in NUDT3 was associated with increased ADHD risk (OR=1.39, P=3.4×10⁻⁴), and rs6497416 in GPRC5B showed association with ADHD in the meta-analysis (P=7.2×10⁻⁴). Several obesity-related SNPs were associated with ADHD endophenotypes including inattention and hyperactivity/impulsivity.

Traits studied:Attention-deficit/hyperactivity disorder (ADHD)Body mass index (BMI)Hyperactivity/impulsivityInattentionObesity

PubMed DOI Metascience Observatory

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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status

AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs543874

GWAS Catalog Trait Associations (21)

body weight

comparative body size at age 10, self-reported

body mass index

hip circumference

whole body water mass

fat pad mass

physical activity measurement, body mass index

waist-hip ratio

obesity

grip strength measurement

Research that mentions this SNP (4)

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