Home Early screening of FTO and MC4R variants in newborns of Greek origin
Article
Licensed
Unlicensed Requires Authentication

Early screening of FTO and MC4R variants in newborns of Greek origin

  • Elina Molou , Kleopatra H. Schulpis , Christos Birbilis , Georgia Thodi , Vassiliki Georgiou , Yannis Dotsikas and Yannis L. Loukas EMAIL logo
Published/Copyright: December 12, 2014

Abstract

Background: Variants of fat mass and obesity associated gene (FTO) and melanocortin-4 receptor gene (MC4R) are related to obesity, overweight and type 2 diabetes.

Objectives: To examine the presence of FTO and MC4R variants in Greek newborns.

Subjects and methods: A total 1530 newborns of Greek origin were subjected to genetic testing for rs9939609 (FTO) and for rs17782313 (MC4R) variants using dried blood spot (DBS) analysis.

Results: Some 20.2% of newborns carried none of the tested variants. FTO homozygotes and FTO heterozygotes correspond to 18.0% and 45.9% of neonates, respectively. MC4R homozygotes and MC4R heterozygotes were identified in 6.7% and 36.3% of neonates, respectively. Of the infants, 2.2% carried both variants in homozygosity, whereas heterozygotes for both variants correspond to 16.7% of the tested neonates.

Conclusion: The results indicate high prevalence of homozygosity and heterozygosity for tested variants. Early screening via DBS may be beneficial in order to adopt a healthy lifestyle.


Corresponding author: Yannis L. Loukas, Department of Pharm. Chemistry, School of Pharmacy, University of Athens, Panepistimioupoli, Zografou, Athens, Greece, Phone: +30 210 7274224, Fax: +30 211 1826131, E-mail:

Acknowledgments

The authors would like to thank General Secretariat of Research and Technology (GSRT) for funding this project (SPINOFF-SPINOUT/4KAIN2009Γ).

Conflict of interest statement

Authors declare that there are no conflicts of interest.

References

1. Obesity: preventing and managing the global epidemic. Report of a WHO consultation. World Health Organ Tech Rep Ser 2000;894:i-xii, 1–253.Search in Google Scholar

2. Freathy RM, Timpson NJ, Lawlor DA, Pouta A, Ben-Shlomo Y, et al. Common Variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI. Diabetes 2008;57:1419–26.10.2337/db07-1466Search in Google Scholar

3. Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007;316:889–94.10.1126/science.1141634Search in Google Scholar

4. Dina C, Meyre D, Gallina S, Durand E, Körner A, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet 2007;39:724–6.10.1038/ng2048Search in Google Scholar

5. Scuteri A, Sanna S, Chen WM, Uda M, Albai G, et al. Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet 2007;3:e115.10.1371/journal.pgen.0030115Search in Google Scholar

6. Sebert SP, Hyatt MA, Chan LL, Yiallourides M, Fainberg HP, et al. Influence of prenatal nutrition and obesity on tissue specific fat mass and obesity-associated (FTO) gene expression. Reproduction 2010;139:265–74.10.1530/REP-09-0173Search in Google Scholar

7. Mei H, Chen W, Mills K, He J, Srinivasan SR, et al. Influences of FTO gene on onset age of adult overweight. Hum Genet 2012;131:1851–9.10.1007/s00439-012-1204-0Search in Google Scholar

8. Cauchi S, Stutzmann F, Cavalcanti-Proença C, Durand E, Pouta A, et al. Combined effects of MC4R and FTO common genetic variants on obesity in European general populations. J Mol Med (Berl) 2009;87:537–46.10.1007/s00109-009-0451-6Search in Google Scholar

9. Orkunoglu-Suer FE, Harmon BT, Gordish-Dressman H, Clarkson PM, Thompson PD, et al. MC4R variant is associated with BMI but not response to resistance training in young females. Obesity 2011;19:662–6.10.1038/oby.2010.180Search in Google Scholar

10. Huszar D, Lynch CA, Fairchild-Huntress V, Dunmore JH, Fang Q, et al. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 1997;88:131–41.10.1016/S0092-8674(00)81865-6Search in Google Scholar

11. Rovite V, Petrovska R, Vaivade I, Kalnina I, Fridmanis D, et al. The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity. MolBiol Rep 2014;41:1491–500.10.1007/s11033-013-2994-4Search in Google Scholar PubMed

12. da Cunha PA, de Carlos Back LK, Sereia AF, Kubelka C, Ribeiro MC, et al. Interaction between obesity-related genes, FTO and MC4R, associated to an increase of breast cancer risk. MolBiol Rep 2013;40:6657–64.10.1007/s11033-013-2780-3Search in Google Scholar PubMed

13. Jelastopulu E, Kallianezos P, Merekoulias G, Alexopoulos EC, Sapountzi-Krepia D. Prevalence and risk factors of excess weight in school children in West Greece. Nurs Health Sci 2012;14:372–80.10.1111/j.1442-2018.2012.00691.xSearch in Google Scholar PubMed

14. Farajian P, Panagiotakos DB, Risvas G, Karasouli K, Bountziouka V, et al. Socio-economic and demographic determinants of childhood obesity prevalence in Greece: the GRECO (Greek Childhood Obesity) study. Public Health Nutr 2013;16:240–7.10.1017/S1368980012002625Search in Google Scholar PubMed

15. Olza J, Ruperez AI, Gil-Campos M, Leis R, Fernandez-Orth D, et al. Influence of FTO variants on obesity, inflammation and cardiovascular disease risk biomarkers in Spanish children: a case-control multicentre study. BMC Med Genet 2013;14:123.10.1186/1471-2350-14-123Search in Google Scholar PubMed PubMed Central

16. Phan-Hug F, Bechmann JS, Jacquemont S. Genetic testing in patients with obesity. Best Pract Res Clin Endocrinol Metab 2012;26:133–43.10.1016/j.beem.2011.11.010Search in Google Scholar PubMed

17. Becjmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 2007;8:639–46.10.1038/nrg2149Search in Google Scholar PubMed

18. Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010;42: 937–48.10.1038/ng.686Search in Google Scholar PubMed PubMed Central

19. Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010;463:671–5.10.1038/nature08727Search in Google Scholar PubMed PubMed Central

20. Day FR, Loos R JF. Developments in obesity genetics in the era of Genome-Wide Association Studies. J Nutrigenet Nutrigenomics 2011;4:222–38.10.1159/000332158Search in Google Scholar PubMed

21. Blackburn GL, Wollner S, Heymsfield SB. Lifestyle interventions for the treatment of class III obesity: a primary target for nutrition medicine in the obesity epidemic. Am J Clin Nutr 2010;91:289S–92S.10.3945/ajcn.2009.28473DSearch in Google Scholar PubMed PubMed Central

22. Swinburn BA, Sacks G, Lo SK, Westerterp KR, Rush EC, et al. Estimating the changes in energy flux that characterize the rise in obesity prevalence. Am J Clin Nutr 2009;89:1723–8.10.3945/ajcn.2008.27061Search in Google Scholar PubMed PubMed Central

23. Heymsfield SB. How large is the energy gap that accounts for the obesity epidemic? Am J Clin Nutr 2009;89:1717–8.10.3945/ajcn.2009.27889Search in Google Scholar PubMed

Received: 2014-7-29
Accepted: 2014-11-4
Published Online: 2014-12-12
Published in Print: 2015-5-1

©2015 by De Gruyter

Articles in the same Issue

  1. Frontmatter
  2. Highlight: Obesity
  3. Childhood obesity at the crossroads
  4. Obesogenic environments: environmental approaches to obesity prevention
  5. Childhood obesity and eating behaviour
  6. Hypothalamic obesity in children: pathophysiology to clinical management
  7. The reliability of body mass index in the diagnosis of obesity and metabolic risk in children
  8. Determining abdominal obesity cut-offs and relevant risk factors for anthropometric indices in Turkish children and adolescents
  9. The effect of body mass index on blood pressure varies by race among obese children
  10. Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents
  11. Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?
  12. The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children
  13. Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
  14. Associations between IGF-I, IGF-binding proteins and bone turnover markers in prepubertal obese children
  15. Osteocalcin is inversely associated with adiposity and leptin in adolescent boys
  16. Association between cardiovascular risk factors and carotid intima-media thickness in prepubertal Brazilian children
  17. Insulin resistance and cardiometabolic risk factors in obese children and adolescents: a hierarchical approach
  18. The role of apolipoprotein E polymorphism in improving dyslipidemia in obese adolescents following physical exercise and National Cholesterol Education Program Step II intervention
  19. Review article
  20. Is ultrasound useful in the diagnosis of adolescents with polycystic ovary syndrome?
  21. Original articles
  22. IGF-II expression and methylation in small for gestational age infants
  23. Early screening of FTO and MC4R variants in newborns of Greek origin
  24. Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
  25. The prevalence of vitamin D deficiency among schoolchildren: a cohort study from Xinxiang, China
  26. Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?
  27. Vitamin D status and its associations with components of metabolic syndrome in healthy children
  28. Metformin treatment improves weight and dyslipidemia in children with metabolic syndrome
  29. Patient reports
  30. Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
  31. Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy
  32. An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
  33. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)
  34. Ovotesticular disorder of sex development with unusual karyotype: patient report
  35. First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
  36. Virilizing adrenal oncocytoma in a 9-year-old girl: rare neoplasm with an intriguing postoperative course
  37. Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency
  38. Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
  39. Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia
  40. Hyperthyroidism hidden by congenital central hypoventilation syndrome
  41. The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
  42. Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis
  43. Cushing syndrome related to leukemic infiltration of the central nervous system
  44. Hashimoto’s encephalopathy: a rare pediatric brain disease
  45. Short communication
  46. A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy
Downloaded on 5.11.2025 from https://www.degruyterbrill.com/document/doi/10.1515/jpem-2014-0320/html?lang=en
Scroll to top button