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]
OMIM ID: | `OMIM ID 610966
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Allelic Variants (Selected Examples)
.0001 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH
In affected members of a consanguineous Palestinian family with growth retardation, developmental delay, coarse facies, and early death (612938), Boissel et al. (2009) identified a homozygous 947G-A transition in the FTO gene, resulting in an arg316-to-gln (R316Q) substitution in a residue that is conserved across all known paralogs. The affected residue is involved in 2-oxoglutarate coordination by forming stabilizing salt bridges with the carboxylates of this cosubstrate. The mutation was not found in 730 control chromosomes. In vitro functional expression studies showed that the mutant protein had no residual normal activity. Cultured skin fibroblasts from 1 patient showed altered morphology with increased number of vacuoles and cellular debris and decreased life span, suggesting premature senescence.
Recent articles:
- Prescott J et al. “Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.” PLoS One. 2012;7(6):e37815. PMID 22675492
- Ma M et al. “Kinetic analysis of FTO (fat mass and obesity-associated) reveals that it is unlikely to function as a sensor for 2-oxoglutarate.” Biochem J. 2012 Jun 1;444(2):183-7. PMID 22435707
- Bencová D et al. “Variant in the FTO gene and biomarkers related to health in mature Slovak women.” Anthropol Anz. 2012;69(2):189-200. PMID 22606913
- Perry JR et al. “Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.” PLoS Genet. 2012 May;8(5):e1002741. PMID 22693455
- Phillips CM et al. “High dietary saturated fat intake accentuates obesity risk associated with the fat mass and obesity-associated gene in adults.” J Nutr. 2012 May;142(5):824-31. PMID 22457394
- Tercjak-Rećko M et al. “[Polymorphism rs9939609 of FTO gene is related to the body mass index in children from Podlaskie voievodship].” Med Wieku Rozwoj. 2012 Jan-Mar;16(1):53-60. PMID 22516774
- Kristiansson K et al. “Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.” Circ Cardiovasc Genet. 2012 Apr 1;5(2):242-9. PMID 22399527
- Dlouhá D et al. “[FTO gene and his role in genetic determination of obesity].” Vnitr Lek. 2012 Mar;58(3):208-15. PMID 22486287
- Sentinelli F et al. “Association of FTO polymorphisms with early age of obesity in obese Italian subjects.” Exp Diabetes Res. 2012;2012:872176. PMID 22454631
- Okada Y et al. “Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.” Nat Genet. 2012 Feb 19;44(3):302-6. PMID 22344221
Top Pubmed articles linked to gene FTO matching any search term:
- de Luis DA et al. “Evaluation of weight loss and adipocytokines levels after two hypocaloric diets with different macronutrient distribution in obese subjects with RS9939609 gene variant.” Diabetes Metab Res Rev. 2012 Aug 3;. PMID 22865603
- Iwata M et al. “Genetic risk score constructed using 14 susceptibility alleles for type 2 diabetes is associated with the early onset of diabetes and may predict the future requirement of insulin injections among Japanese individuals.” Diabetes Care. 2012 Aug;35(8):1763-70. PMID 22688542
- Chen G et al. “Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.” Hum Mol Genet. 2012 Jul 30;. PMID 22791750
- Hatziagelaki E et al. “Insulin Resistant Phenotype of Polycystic Ovary Syndrome does not Seem to be Caused by Variation in FTO.” Horm Metab Res. 2012 Jul 30;. PMID 22847851
- Pyrzak B et al. “Relation of fat-mass and obesity-associated gene polymorphism to fat mass content and body mass index in obese children.” Adv Exp Med Biol. 2013;756:255-62. PMID 22836643
- Wojciechowski P et al. “Impact of FTO genotypes on BMI and weight in polycystic ovary syndrome: a systematic review and meta-analysis.” Diabetologia. 2012 Jul 18;. PMID 22801903
- Linder K et al. “Allele summation of diabetes risk genes predicts impaired glucose tolerance in female and obese individuals.” PLoS One. 2012;7(6):e38224. PMID 22768041
- Luczynski W et al. “The association of the FTO rs9939609 polymorphism with obesity and metabolic risk factors for cardiovascular diseases in Polish children.” J Physiol Pharmacol. 2012 Jun;63(3):241-8. PMID 22791637
- Cecil J et al. “Obesity and eating behaviour in children and adolescents: Contribution of common gene polymorphisms.” Int Rev Psychiatry. 2012 Jun;24(3):200-10. PMID 22724641
- Parikh M et al. “Frequencies of obesity susceptibility alleles among ethnically and racially diverse bariatric patient populations.” Surg Obes Relat Dis. 2012 May 8;. PMID 22695173
- Prakash J et al. “Association of FTO rs17817449 SNP with obesity and associated physiological parameters in a north Indian population.” Ann Hum Biol. 2011 Nov;38(6):760-3. PMID 21919686
- Kilpeläinen TO et al. “Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.” Nat Genet. 2011 Jun 26;43(8):753-60. PMID 21706003
- Hertel JK et al. “FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies.” Diabetes. 2011 May;60(5):1637-44. PMID 21398525
- Huang W et al. “Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chinese Han populations.” Endocrine. 2011 Feb;39(1):69-74. PMID 21063808
- Li M et al. “[Association of the rs9939609 polymorphism of FTO gene with overweight or obesity in Hazakh children].” Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):678-81. PMID 21154332
- Xi B et al. “The common rs9939609 variant of the fat mass and obesity-associated gene is associated with obesity risk in children and adolescents of Beijing, China.” BMC Med Genet. 2010 Jul 5;11:107. PMID 20598163
- Voight BF et al. “Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.” Nat Genet. 2010 Jul;42(7):579-89. PMID 20581827
- Bressler J et al. “Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study.” PLoS One. 2010 May 20;5(5):e10521. PMID 20502638
- He M et al. “Obesity genotype score and cardiovascular risk in women with type 2 diabetes mellitus.” Arterioscler Thromb Vasc Biol. 2010 Feb;30(2):327-32. PMID 19910641
- Lauenborg J et al. “Common type 2 diabetes risk gene variants associate with gestational diabetes.” J Clin Endocrinol Metab. 2009 Jan;94(1):145-50. PMID 18984664