rs29941

This is a downstream gene variant variant.

GWAS Catalog Trait Associations (3)

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

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 C
OR 0.01
p 2.0e-21
N 1,122,049
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 C
OR 0.02
p 9.0e-18
N 650,000
Large GWAS
European
Allele C
OR
β 0.016
p 3.0e-9
N 334,487
Large GWAS
multi-ancestry
Allele C
OR 0.02
p 2.0e-8
N 238,944
Large GWAS
multi-ancestry
Allele C
OR 0.02
p 2.0e-10
N 158,284
Large GWAS
multi-ancestry
Allele C
OR 0.06
p 3.0e-9
N 123,865
Large GWAS
European
Allele C
OR 4.18
p 7.0e-12
N 73,758
Large GWAS
multi-ancestry

body weight

Allele C
OR 3.73
p 5.0e-9
N 73,758
Large GWAS
multi-ancestry

smoking behavior, body mass index

Allele A
OR
p 2.0e-8
N 196,760
Meta-analysisLarge GWAS
multi-ancestry

Research that mentions this SNP (7)

Genetic variation of FTO: rs1421085 T&gt;C, rs8057044 G&gt;A, rs9939609 T&gt;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
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
Genetic variation at the CELF1 (CUGBP, elav‐like family member 1 gene) locus is genome‐wide associated with Alzheimer's disease and obesity
ReviewAnke Hinney et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This literature review examines the influence of genetic polymorphisms on obesity development and adaptive responses to physical activity, focusing on five candidate genes: COMT (rs4680, Val158Met), DRD2 (rs1800497 Taq1A and rs1799732), FABP2 (rs1799883, Ala54Thr), FTO (rs9939609, A/T), and UCP1 (rs1800592, A-3826G). The review synthesizes molecular mechanisms, phenotypic associations, and implications for human health and training adaptations, noting that physical activity reduces the FTO genetic effect on obesity risk by 30-80% and that various polymorphisms show differential impacts on body composition and metabolic responses to exercise.

Traits studied:Adipose tissue distributionAthletic performanceBody Mass Index (BMI)Body compositionExercise adaptationFat massMuscle massObesityPhysical activity responseWeight loss
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
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
Susceptibility variants for obesity and colorectal cancer risk: The multiethnic cohort and PAGE studies
AssociationN=11,673Unhee Lim et al.(2012)· International Journal of Cancer

This case-control study of 2,033 colorectal cancer cases and 9,640 controls investigated whether BMI and waist size susceptibility variants are associated with colorectal cancer risk. Two obesity SNPs showed significant associations: KCTD15 rs29941 (OR = 0.90, p = 0.01) was protective, while MC4R rs17782313 (OR = 1.12, p = 0.02) increased risk. However, neither association remained significant after multiple comparisons correction, and overall obesity variants showed minimal effects on colorectal cancer.

Traits studied:Body mass index (BMI)Colorectal cancerWaist size
Association of genetic variants for susceptibility to obesity with type 2 diabetes in Japanese individuals
AssociationN=18,264Takeuchi F. et al.(2011)· Diabetologia

Replication study of 14 obesity-associated SNPs from 13 loci in 18,264 Japanese participants, confirming associations at 11 loci including TMEM18 (rs4854344, p=7.1×10⁻⁷ for BMI), FTO, MC4R, BDNF, and others. Six obesity variants also associated with type 2 diabetes after BMI adjustment (OR 1.05-1.17), with FTO showing strong meta-analyzed association in East Asians (OR 1.13, p=7.8×10⁻¹⁰).

Traits studied:Body Mass Index (BMI)ObesityType 2 DiabetesWaist-to-Hip RatioWeight

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

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