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2008 | 3 | 3 | 271-278

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


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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.










Physical description


1 - 9 - 2008
10 - 7 - 2008


  • Department of Pediatrics, the 2nd University of Naples, 80138, Naples, Italy
  • Department of Pediatrics, the 2nd University of Naples, 80138, Naples, Italy
  • Department of Pediatrics, the 2nd University of Naples, 80138, Naples, Italy


  • [1] Chumlea W.C., Cronk C.E., Overweight among children with trisomy 21, J. Ment. Defic. Res., 1981, 25, 275–280
  • [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
  • [3] Prasher V.P., Overweight and obesity among Down’s syndrome adults., J. Intellect. Disabil. Res., 1995, 39, 437–441 [Crossref]
  • [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 [Crossref]
  • [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 http://dx.doi.org/10.1542/peds.108.3.712[Crossref]
  • [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 http://dx.doi.org/10.1038/sj.ijo.0802378[Crossref]
  • [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 http://dx.doi.org/10.1016/S0303-7207(01)00414-2[Crossref]
  • [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 http://dx.doi.org/10.1210/jc.2005-0670[Crossref]
  • [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 http://dx.doi.org/10.1136/adc.51.3.170[Crossref]
  • [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 [Crossref]
  • [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 http://dx.doi.org/10.1111/j.1651-2227.1985.tb10092.x[Crossref]
  • [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 http://dx.doi.org/10.1136/adc.87.2.97[Crossref][WoS]
  • [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
  • [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 http://dx.doi.org/10.1097/00004872-199917100-00002[Crossref]
  • [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 http://dx.doi.org/10.1210/jc.83.10.3563[Crossref]
  • [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
  • [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 http://dx.doi.org/10.1016/S0002-8223(96)00330-6[Crossref]
  • [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 [Crossref]
  • [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 http://dx.doi.org/10.1007/BF02260938[Crossref]
  • [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
  • [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 http://dx.doi.org/10.1080/10245330500141788[Crossref]
  • [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 http://dx.doi.org/10.1007/s10038-005-0281-5[Crossref]
  • [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 [Crossref]
  • [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 http://dx.doi.org/10.1385/ENDO:18:2:179[Crossref]

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