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.

中文翻译：

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唐氏综合征儿童：核受体亚家族 3 组 C 成员 1 基因 Bcl-I 多态性与肥胖的关联

背景

本研究旨在评估人类糖皮质激素受体 (GR) 基因中的 rs41423247 (Bcl-I) 多态性（称为核受体亚科 3 C 组成员 1 ( NR3C1 )）与患有和不患有唐氏综合症的埃及儿童肥胖之间的可能关联。

方法

使用实时 PCR 评估了 300 名儿童的 Bcl-I 多态性，分为四组：肥胖、非肥胖、正常肥胖和正常非肥胖。

结果

在Bcl-I基因型和等位基因频率方面，正常肥胖和正常非肥胖儿童之间没有显着差异，而在Bcl-I GC基因型频率方面，肥胖和非肥胖儿童之间存在显着差异。同样，在 Bcl-I 基因型和等位基因方面，唐氏肥胖和正常非肥胖儿童之间以及唐氏综合征儿童（肥胖和非肥胖）与正常儿童（肥胖和非肥胖）之间存在高度显着差异频率。

结论

我们的研究发现 Bcl-I rs41423247 的 G 等位基因与正常埃及儿童肥胖的存在弱相关，而 Bcl-I rs41423247 的突变 C 等位基因与唐氏综合症有显着关联，表明可能存在关联与唐氏综合症的病理生理学有关。

影响

• Bcl-I 多态性与正常儿童的肥胖没有显着的相关性。

• 肥胖正常儿童的GG基因型较高，但无显着差异。

• 唐氏儿童的突变C等位基因显着高于正常儿童。

• 这可能与唐氏综合症的病理生理学有关，它扰乱了整个基因组的平衡。