Evidence map›Paper›PMID 26243156›Full record

ArticleMolecular diagnosis & therapy2015

Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents.

Manal S Fawzy, Osama Alhadramy, Mohammad H Hussein, Hussein M Ismail, Nesreen M Ismail, Nouran M Biomy, Eman A Toraih

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Article in Molecular diagnosis & therapy, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.

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12citing papers in PubMed, 2 pooled it
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  3. Identification and Molecular Simulation of Genetic Variants inInternational journal of molecular sciences · 2024
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  6. Antioxidants-Related Superoxide Dismutase (Antioxidants (Basel, Switzerland) · 2021
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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Manal S FawzyDepartment of Medical Biochemistry, Faculty of Medicine, Suez Canal University, Ismailia, Egypt, manal2_khashana@ymail.com.
Osama Alhadramy
Mohammad H Hussein
Hussein M Ismail
Nesreen M Ismail
Nouran M Biomy
Eman A Toraih

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionObesity 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. MATERIALS AND

methodsThe 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.

resultsOur 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.

conclusionsThe study results suggest that R219K and I883M SNPs of the ABCA1 gene may play a role in susceptibility to obesity in our Egyptian population; the former increases susceptibility and phenotype severity, and the latter is protective. Larger epidemiological studies are needed for validation of the results.

Indexed as

Genetic Predisposition to DiseaseAdolescentAnthropometryATP Binding Cassette Transporter 1Base SequenceBiological TransportChildCholesterolComputer SimulationFemaleGene FrequencyHumansLinkage DisequilibriumMaleMolecular Sequence DataObesityABCA1 protein, humanATP Binding Cassette Transporter 1Cholesterol

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.