rs7193144

This is a intron variant variant in the FTO gene.

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GWAS Catalog Trait Associations (4)

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

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Research that mentions this SNP (2)

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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
PubMedDOIMetascience Observatory
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FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians
AssociationN=3,775Yajnik CS et al.(2009)· Diabetologia

This case-control study of 1453 type 2 diabetes patients and 1361 controls from South Asian Indians found that FTO gene variants rs9939609 and rs7193144 were strongly associated with type 2 diabetes (OR=1.26, 95% CI 1.13-1.40, p=3×10⁻⁵ for rs9939609; OR=1.31 for rs7193144), but showed only weak association with BMI and obesity measures. Unlike in European populations, the T2D association remained significant after adjusting for BMI, suggesting FTO variants influence diabetes risk through mechanisms beyond body mass index in South Asian populations.

Traits studied:Body mass indexFasting plasma glucoseHip circumferenceInsulin resistanceObesityType 2 diabetesWaist circumferenceWaist-hip ratio
PubMedDOIMetascience Observatory

About FTO

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

View all FTO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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