Skip to main content
SpringerLink
Log in

Impact of ER gene polymorphisms on overweight and obesity in Down Syndrome

  • Research Article
  • Published:
Central European Journal of Medicine

Abstract

The impact of ER XbaI and PvuII α gene polymorphisms on overweight and obesity were studied in 77 subjects with Down Syndrome (DS), of which 32 were children (18 boys, 14 girls), mean age 8.7 ± 2.3 years, and 45 adolescents (28 boys, 17 girls) mean age 14 ± 2.5 years. Their lifestyle was compared to 40 healthy age-matched controls. DS subjects had significant lesser physical activity than controls (p<0.05) and a lower caloric intake than the recommended requirements, which was significantly lesser than controls (p<0.05). Body Mass Index (BMI), Arm Circumference (AC) and Triceps Skinfold Thickness (TST) were significantly higher in DS subjects than controls (p<0.05), while metabolic and cardiovascular parameters were not significantly different between the groups (p>0.05). The frequency of ER genotypes in DS subjects was compared with the healthy controls, finding that there was a high prevalence of XXER genotype in DS subjects. Children and adolescents with DS, lacking ER XbaI site, showed significantly higher BMI and body fat distribution than other XbaI genotypes. The lack of ER XbaI site can indicate added risk of obesity in DS. No differences in metabolic and cardiovascular parameters were observed among ER genotypes. However, childhood obesity is associated with increased cardiovascular risk.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Chumlea W.C., Cronk C.E., Overweight among children with trisomy 21, J. Ment. Defic. Res., 1981, 25, 275–280

    PubMed  Google Scholar 

  2. Bell A. & Bhate M., Prevalence of overweight and obesity in Down’s syndrome and other mentally handicapped adults living in the community, J. Intellect. Disabil. Res., 1992, 36, 359–364

    PubMed  Google Scholar 

  3. Prasher V.P., Overweight and obesity among Down’s syndrome adults., J. Intellect. Disabil. Res., 1995, 39, 437–441

    PubMed  Google Scholar 

  4. Eckel R.H., Krauss R.M., American Heart Association call to action: obesity as a major risk factor for coronary heart disease, Circulation, 1998, 97, 2099–100

    PubMed  CAS  Google Scholar 

  5. Freedman D.S., Khan L.K., Dietz W.H., Srinivasan S.R., Berenson G.S., Relationship of childhood obesity to coronary heart disease risk factors in adulthood: the Bogalusa Heart Study, Pediatrics, 2001, 108, 712–718

    Article  PubMed  CAS  Google Scholar 

  6. Perrone L., Raimondo P., Santoro N., Miraglia del Giudice E., Le basi genetiche dell’obesità, Salute e equilibrio nutrizionale, Springer, 2006

  7. Okura T., Koda M., Ando F., Niino N., Ohta S., Shimokata H., Association of Polymorphisms in the estrogen receptor alpha gene with body fat distribution, Int. J. Obes. Relat. Metab. Disord., 2003, 27, 1020–1027

    Article  PubMed  CAS  Google Scholar 

  8. Cooke P.S., Heine P.A., Taylor J.A., Lubahn D.B., The role of estrogen and receptor-alpha in male adipose tissue, Mol. Cell., Endocrinol., 2001, 178, 147–154

    Article  CAS  Google Scholar 

  9. Fox C.S., Yang Q., Cupples L.A., Guo C.Y., Atwood L.D., Murabito J.M., et al., Sex-specific association between estrogen receptor-alpha gene variation and measures of adiposity: the Framingham Heart Study, J. Clin. Endocrinol Metab., 2005, 90, 6257–6262

    Article  PubMed  CAS  Google Scholar 

  10. Tanner J.M., Whitehouse R.H., Clinical longitudinal standard of height, weight, height velocity, weight velocity and the stages of puberty, Arch. Dis. Child., 1976, 51, 170–179

    Article  PubMed  CAS  Google Scholar 

  11. Sharav T., Bowman T., Dietary practices, physical activity, and body-mass index in a selected population of Down syndrome children and their siblings, Clin. Pediatr. (Phila), 1992, 31, 341–344

    CAS  Google Scholar 

  12. Telama R., Viikari J., Valimaki I., Siren-Tiusanen H., Akerblom H.K., Uhari M., et al., Atherosclerosis precursors in Finnish children and adolescents.X. Leisure-time physical activity, Acta Paediatr. Scand. Suppl., 1985, 318, 169–180

    Article  PubMed  CAS  Google Scholar 

  13. Myrelid A., Gustafsson J., Ollars B., Anneren G., Growth charts for Down’s syndrome from birth to 18 years of age, Arch. Dis. Child, 2002, 87, 97–103

    Article  PubMed  CAS  Google Scholar 

  14. Friedwald W.T., Levy R.I., Fredrickson D.S., Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge, Clin. Chem., 1972, 18, 499–502

    Google Scholar 

  15. Menghetti E., Virdis R., Strambi M., Patriarca V., Riccioni M.A., Fossali E., et al., Blood pressure in childhood and adolescence: the Italian normal standards. Study Group on Hypertension’ of the Italian Society of Pediatrics’, J. Hypertens., 1999, 17, 1363–1372

    Article  PubMed  CAS  Google Scholar 

  16. Suarez F., Rossignol C., Garabedian M., Interactive effect of estradiol and vitamin D receptor gene polymorphisms as a possible determinant of growth in male and female infants, J. Clin. Endocrinol. Metab., 1998, 83, 3563–3568

    Article  PubMed  CAS  Google Scholar 

  17. Wabitsch M., Le basi fisiologiche dell’obesità, Salute e equilibrio nutrizionale. Springer 2006

  18. Pipes P.L., Holm V.A., Feeding children with Down’s syndrome, J. Am. Diet. Assoc. 1980, 77, 277–282

    PubMed  CAS  Google Scholar 

  19. Luke A., Sutton M., Schoeller D.A., Roizen N.J., Nutrient intake and obesity in prepubescent children with Down syndrome, J. Am. Diet. Assoc., 1996, 96, 1262–1267

    Article  PubMed  CAS  Google Scholar 

  20. Luke A., Roizen N.J., Sutton M., Schoeller D.A., Energy expenditure in Children with Down syndrome: correcting metabolic rate for movement, J. Pediatr., 1994, 125, 829–38

    PubMed  CAS  Google Scholar 

  21. Prince J., Jia S., Bouve U., Anneren G., Oreland L., Mitochondrial enzyme deficiencies in Down’s syndrome, J Neural Transm Park. Dis. Dement. Sect.,1994, 8, 171–181

    Article  PubMed  CAS  Google Scholar 

  22. Allison D.B., Gomez J.E., Heshke S., Babbitt R.L., Geliabter A., Kreibich K., et al., Decreased resting metabolic rate among persons with Down Syndrome, Int. J. Obes. Relat. Metab. Disord., 1995, 19, 858–61

    PubMed  CAS  Google Scholar 

  23. Ferrara M., Matarese S.M., Borrelli B., Francese M., Perrotta A., Simeone G., et al., Impact of excess weight and estrogen receptor gene polymorphisms on clinical course of homozygous beta thalassemia, Hematology, 2005, 10, 407–411

    Article  PubMed  CAS  Google Scholar 

  24. Jian W.X., Yang Y.J., Long J.R., Li Y.N., Deng F.Y., Jiang D.K., et al., Estrogen receptor alpha gene relationship with peak bone mass and body mass index in Chinese nuclear families, J. Hum. Genet., 2005, 50, 477–482

    Article  PubMed  CAS  Google Scholar 

  25. Matsubara Y., Murata M., Kawano K., Zama T., Aoki N., Yoshino H., et al., Genostype distribution of estrogen receptor polymorphisms in men and postmenopausal women from healthy and coronary populations and its relation to serum lipid levels, Arteriosclerosis Thrombosis and Vascular Biology, 1997, 17, 3006–3012

    CAS  Google Scholar 

  26. Machinal-Quèlin F., Dieudonnè M.N., Pecquery R., Leneveu M.C., Giudicelli Y., Direct in vitro effects of androgens and estrogens on ob gene expression and leptin secretion in human adipose tissue, Endocrine, 2002, 18, 179–184

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, the 2nd University of Naples, 80138, Naples, Italy

    Mara Ferrara, Laura Capozzi & Rosa Russo

Authors
  1. Mara Ferrara
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Laura Capozzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rosa Russo
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Mara Ferrara.

About this article

Cite this article

Ferrara, M., Capozzi, L. & Russo, R. Impact of ER gene polymorphisms on overweight and obesity in Down Syndrome. cent.eur.j.med 3, 271–278 (2008). https://doi.org/10.2478/s11536-008-0032-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.2478/s11536-008-0032-z

Keywords

Search

Navigation