rs984222

This is a regulatory region variant variant in the TBX15 gene.

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GWAS Catalog Trait Associations (3)

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

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.04
p 8.0e-42
N 219,872
Major Consortium StudyLarge GWAS
European
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 C
OR 0.04
p 2.0e-12
N 122,328
Meta-analysisLarge GWAS
multi-ancestry

waist-hip ratio

Heid IM et al. “Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.” Nature Genetics 42(11):949-60 (2010)
Allele G
OR —
β 0.030
p 9.0e-25
N 77,167
Meta-analysisLarge 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 0.01
p 5.0e-20
N 1,122,049
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 0.015
p 6.0e-9
N 334,487
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association studies of novel obesity-related gene variants with quantitative metabolic phenotypes in a population-based sample of 6,039 Danish individuals
AssociationN=6,039Burgdorf KS et al.(2012)· Diabetologia

This association study investigates 18 BMI-associated and 14 WHR-associated gene variants identified by prior GWAS in 6,039 Danish individuals from the Inter99 cohort. The study found that QPCTL rs2287019 C allele was associated with increased insulinogenic index (7.4%, p=4.0×10⁻⁷) and disposition index (5.6%, p=6.4×10⁻⁵), while LRP1B rs2890652 C allele was associated with insulin resistance (3.3% increase in HOMA-IR, p=0.0011). For WHR variants, LYPLAL1/SLC30A10 rs4846567 G allele carriers showed improved insulin sensitivity (5.2% lower HOMA-IR in women, p=0.00086), whereas VEGFA rs6905288 A allele carriers showed insulin resistance in women (3.7% increase in HOMA-IR, p=0.00036).

Traits studied:BIGTT-AIR (Beta Cell Function)Body Mass Index (BMI)Disposition IndexFasting Plasma GlucoseFasting Serum InsulinHOMA-IR (Insulin Resistance)Insulinogenic IndexMatsuda Index (Insulin Sensitivity)Waist-Hip Ratio (WHR)
PubMedDOIMetascience Observatory

About TBX15

This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]

View all TBX15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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