BACKROUND: This study aimed to assess the possible association between rs41423247 (Bcl-I) polymorphism in the gene for the human glucocorticoid receptor (GR) called Nuclear Receptor Subfamily 3 Group C Member 1 (NR3C1) with obesity in Egyptian children with and without Down syndrome. METHODS: The Bcl-I polymorphism was assessed, using real-time PCR, in 300 children divided into four groups: Down-obese, Down-non obese, normal-obese, and normal non-obese. RESULTS: There was no significant difference between normal-obese and normal-non obese children regarding the Bcl-I genotypes and allele frequencies, while there was a significant difference between Down-obese and Down-non obese children regarding the Bcl-I GC genotype frequency. Again, there was a highly significant difference between Down-obese and normal-non obese children and between children with Down-syndrome (obese and non-obese) and normal children (obese and non-obese) regarding the Bcl-I genotypes and alleles frequencies. CONCLUSIONS: Our study found a weak association of the G allele of Bcl-I rs41423247 with the presence of obesity among normal Egyptian children, while there was a significant association of the mutant C allele of the Bcl-I rs41423247 with Down syndrome, suggesting a possible association with Down syndrome pathophysiology. IMPACT: Bcl-I polymorphism is not strikingly associated with obesity in normal children. The GG genotype is higher in obese normal children but without significant difference. The significant increase of the mutant C allele in Down-children than normal children. This may be relevant to Down syndrome's pathophysiology which disturbs the whole genome's balance.
BACKROUND: This study aimed to assess the possible association between rs41423247 (Bcl-I) polymorphism in the gene for the human glucocorticoid receptor (GR) called Nuclear Receptor Subfamily 3 Group C Member 1 (NR3C1) with obesity in Egyptian children with and without Down syndrome. METHODS: The Bcl-I polymorphism was assessed, using real-time PCR, in 300 children divided into four groups: Down-obese, Down-non obese, normal-obese, and normal non-obese. RESULTS: There was no significant difference between normal-obese and normal-non obese children regarding the Bcl-I genotypes and allele frequencies, while there was a significant difference between Down-obese and Down-non obese children regarding the Bcl-I GC genotype frequency. Again, there was a highly significant difference between Down-obese and normal-non obese children and between children with Down-syndrome (obese and non-obese) and normal children (obese and non-obese) regarding the Bcl-I genotypes and alleles frequencies. CONCLUSIONS: Our study found a weak association of the G allele of Bcl-I rs41423247 with the presence of obesity among normal Egyptian children, while there was a significant association of the mutant C allele of the Bcl-I rs41423247 with Down syndrome, suggesting a possible association with Down syndrome pathophysiology. IMPACT: Bcl-I polymorphism is not strikingly associated with obesity in normal children. The GG genotype is higher in obese normal children but without significant difference. The significant increase of the mutant C allele in Down-children than normal children. This may be relevant to Down syndrome's pathophysiology which disturbs the whole genome's balance.
Authors: K Clément; A Philippi; C Jury; R Pividal; J Hager; F Demenais; A Basdevant; B Guy-Grand; P Froguel Journal: Int J Obes Relat Metab Disord Date: 1996-06
Authors: N A Huizenga; J W Koper; P de Lange; H A Pols; R P Stolk; D E Grobbee; F H de Jong; S W Lamberts Journal: J Clin Endocrinol Metab Date: 1998-01 Impact factor: 5.958