Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Chil
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ORIGINAL RESEARCH ARTICLE
Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents Manal S. Fawzy1 • Osama Alhadramy2 • Mohammad H. Hussein3 • Hussein M. Ismail2,4 • Nesreen M. Ismail5 • Nouran M. Biomy6 • Eman A. Toraih7
Ó Springer International Publishing Switzerland 2015
Abstract Introduction Obesity is a serious medical condition that affects children and adolescents. ATP-binding cassette transporter A1 (ABCA1) protein is known to mediate the transport of intracellular cholesterol and phospholipids across the cell membranes. Thus, we aimed to investigate the association between ABCA1 gene polymorphisms and overweight/obesity risk, and to evaluate their relation to the lipid profile.
Electronic supplementary material The online version of this article (doi:10.1007/s40291-015-0150-7) contains supplementary material, which is available to authorized users. & Manal S. Fawzy [email protected] & Eman A. Toraih [email protected] 1
Department of Medical Biochemistry, Faculty of Medicine, Suez Canal University, Ismailia, Egypt
2
Department of Medicine, Faculty of Medicine, Taibah University, Almadinah Almunawwarah, Kingdom of Saudi Arabia
3
Department of Chest Diseases, Faculty of Medicine, Cairo University, Giza, Egypt
4
Department of Cardiology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt
5
Department of Rheumatology and Rehabilitation, Faculty of Medicine, Suez Canal University, Ismailia, Egypt
6
Department of Pediatrics, Faculty of Medicine, Suez Canal University, Ismailia, Egypt
7
Department of Histology and Cell Biology (Genetics Unit), Faculty of Medicine, Suez Canal University, Ismailia, Egypt
Materials and Methods The study included in silico analysis of ABCA1 gene and protein. Two genetic variants in ABCA1 gene—R219K (rs2230806; G/A) and I883M (rs2066714; A/G)—were genotyped in 128 normal weight and 128 overweight/obese subjects using polymerase chain reaction–restriction fragment length polymorphism technology. Anthropometric and biochemical assessments were performed. Results Our findings suggest that the heterozygote GA genotype of R219K polymorphism increased susceptibility to obesity under the heterozygous model (odds ratio 2.75, 95 % CI 1.01–6.12; p = 0.014) compared with the control group. This susceptibility could be gender-specific, with higher risk among females. In addition, the A variant was associated with a higher degree of obesity (p \ 0.001). On the other hand, individuals with the G variant of I883M polymorphism showed lower susceptibility to obesity under all genetic models (allelic, homozygote, heterozygote, dominant, and recessive models; p \ 0.05), with no observed association with body mass index or degree of obesity. However, both single nucleotide polymorphisms (SNPs) showed significant differences in lipid levels among patients with different genotypes. Conclusions The study results suggest that R219K and I883M SNPs of the ABCA1 gene may play a role in suscep
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