- the most strongly linked neighboring snp is rs9939609
- some evidence suggests rs1421085 may be the true causative snp
This plos genetics paper reports rs9930506 showed the strongest association with BMI (p = 8.6 *10-7), hip circumference (p = 3.4 * 10-8) and weight (p = 9.1 * 10-7). homozygotes for the rare "G" allele were were 1.3 BMI units heavier than homozygotes for the common "A" allele.
This SNP did not show any association with obesity, type-2 diabetes or any other related traits in a study of 3,210 Chinese subjects. Furthermore, the minor allele frequency was much lower in Chinese populations compared to populations of European descent.[PMID 17959933]
[PMID 19148128] rs9930506 (A;A) showed decreased levels of methylated PPARGC1A in comparison with AG + GG genotypes, suggesting a potential role of promoter PPARGC1A methylation in metabolic programming.
|95% CI||NR) SD lower (weight|
[PMID 22454631] Association of FTO Polymorphisms with Early Age of Obesity in Obese Italian Subjects.
[PMID 18325910] Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.
[PMID 18379722] Variations in the FTO gene are associated with severe obesity in the Japanese.
[PMID 18469204] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
[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 18647953] Fat mass-and obesity-associated (FTO) gene variant is associated with obesity: longitudinal analyses in two cohort studies and functional test.
[PMID 19322589] Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19679263] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.
[PMID 20018076] Tests for candidate-gene interaction for longitudinal quantitative traits measured in a large cohort.
[PMID 20075150] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
[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 20502638] Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study.
[PMID 21283731] FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
[PMID 21688152] Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 24106974] Association between fat mass and obesity-associated (FTO) gene and hip fracture susceptibility
[PMID 23103831] VDR TaqI is associated with obesity in the Greek population.
[PMID 25254029] Effect of the FTO rs9930506 Polymorphism on the Main Comorbidities of the Cardiorenal Metabolic Syndrome in an Elderly Spanish Cohort
[PMID 25966591] [Association of polymorphic variants of FTO and MC4R genes with obesity in a Tatar population]