Children with Down syndrome: association of Bcl-I polymorphism of nuclear receptor subfamily 3 group C member 1 gene with obesity.

Autor: Abo El-Fotoh WMM; Department of Pediatrics, Menoufia University, Al Minufiyah, Egypt. wafaamoustafa60@yahoo.com., Bahbah HMN; Department of Pediatrics, Menoufia University, Al Minufiyah, Egypt., Elaithy MAE; Department of Medical Biochemistry and Molecular Biology, Menoufia University, Al Minufiyah, Egypt., Ahmed RKR; AL-Bagour General Hospital, Egyptian Ministry of Health, El-Bagour, Egypt., Bayomy NR; Department of Medical Biochemistry and Molecular Biology, Menoufia University, Al Minufiyah, Egypt.
Jazyk: angličtina
Zdroj: Pediatric research [Pediatr Res] 2022 Jul; Vol. 92 (1), pp. 216-224. Date of Electronic Publication: 2021 Aug 25.
DOI: 10.1038/s41390-021-01711-3
Abstrakt: 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.
(© 2021. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.)
Databáze: MEDLINE
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