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Obesity is a common multifactorial public health problem.
The worldwide prevalence of obesity nearly tripled
between 1975 and 2016. The estimated prevalence of
overweight and obesity in Egypt is 61–70% of the adult
population. It is also considered as one of the top contributors
to mortality among Egyptians.
GAD2 gene is one of the studied genes that is suggested
to be associated with obesity. It encodes for the 65-kDa isoform
of the enzyme GAD2 which catalyzes the formation of GABA
from glutamic acid. The GABA in the hypothalamus functions
together with NPY in the paraventricular nucleus to stimulate
food intake. In addition, GABA serves as a functional regulator
of the pancreatic hormonal release.
Some researchers hypothesize that single nucleotide
polymorphisms (SNPs) in GAD2 gene may enhance the over
expression of the GAD2 resulting in overeating and obesity.
One of the suggested SNPs in GAD2 gene is the -243A>G
polymorphism (rs2236418) where the adenine (A) nucleotide is
substituted by the guanine (G) nucleotide at the 243rd position
in the non-coding 5’prime promoter region of the GAD2 gene.
In the light of the previous data, the aim of the present
study was to study the relation between -243A>G
polymorphism of GAD2 gene and the presence of obesity.The study was conducted on (30) obese patients with
BMI ≥30 kg/m2. In addition, (20) age and sex-matched
apparently healthy adults (BMI <25 kg/m2) were included as
healthy controls. Detection of -243A>G polymorphism of
GAD2 gene was performed by PCR-RFLP technique.
The present study revealed that the (AA) genotype and
the (A) allele frequencies were significantly higher in healthy
controls when compared to obese patients. Meanwhile, the
frequencies of the (AG) and (GG) genotypes as well as the (G)
allele were significantly higher among obese patients as
compared to healthy controls. Data of the present study also
revealed no difference between class II and class III obesity as
regards the -243A>G SNP genotype distribution or allele
frequencies. Finally, no association was observed between the
different genotypes of -243A>G SNP and the different
demographic, clinical and metabolic features in the studied
In conclusion, the present study demonstrated the
presence of a significant association between the -243A>G
polymorphism and obesity. However, the genotype and allele
frequencies of this genetic variant did not differ between class
II and class III obesity and were not related to any
demographic, clinical or metabolic features of the studied