Association analysis of single nucleotide polymorphisms in autophagy related 7 (ATG7) gene in patients with coronary artery disease.

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Tytuł:: Association analysis of single nucleotide polymorphisms in autophagy related 7 (ATG7) gene in patients with coronary artery disease.
Autorzy:: Sarosh M; Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.
Nurulain SM
Shah STA
Jadoon Khan M
Muneer Z
Bibi N
Shah SFA
Hussain S
Źródło:: Medicine [Medicine (Baltimore)] 2022 Jul 01; Vol. 101 (26), pp. e29776. Date of Electronic Publication: 2022 Jul 01.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins
MeSH Terms:: Autophagy-Related Protein 7*/genetics
Coronary Artery Disease*/genetics
Polymorphism, Single Nucleotide*
Autophagy ; Case-Control Studies ; Humans ; Nitric Oxide ; Retrospective Studies
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Substance Nomenclature:: 31C4KY9ESH (Nitric Oxide)
EC 6.2.1.45 (ATG7 protein, human)
EC 6.2.1.45 (Autophagy-Related Protein 7)
Entry Date(s):: Date Created: 20220701 Date Completed: 20220706 Latest Revision: 20231213
Update Code:: 20240105
PubMed Central ID:: PMC9239656
DOI:: 10.1097/MD.0000000000029776
PMID:: 35777002
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Recent experimental studies sparked the involvement of autophagy-related 7 (ATG7) in the development of atherosclerosis. However, the genetic variants and their association with coronary artery disease (CAD) are still to be unveiled. Therefore, we aimed to design a retrospective case-control study for the analysis of ATG7 gene polymorphisms and their association with CAD among the subjects originating from Pakistan. The ATG7 noncoding polymorphisms (rs1375206; Chr3:11297643 C/G and rs550744886; Chr3:11272004 C/G) were examined in 600 subjects, including 300 individuals diagnosed with CAD. Arginase-1 (ARG1) and nitric oxide metabolites were measured by the colorimetric enzymatic assay. Genotyping of noncoding ATG7 polymorphisms was accomplished by the polymerase chain reaction-restriction fragment length polymorphism method. A significant association of ATG7 (rs1375206 and rs550744886) was observed in individuals exhibiting CAD (P < .0001, for each single-nucleotide polymorphism). Moreover, variant allele G at both loci showed high occurrence and significant association with the disease phenotype as compared to the wild-type allele (odds ratio [OR] = 2.03, P < .0001 and OR = 2.08, P < .001, respectively). Variant genotypes at ATG7 rs1375206 and rs550744886 showed significant association with high concentrations of ARG1 and low nitric oxide metabolites among the patients (P < .0001 for each). A significant difference was noted in the distribution of the haplotype G-G, mapped at Chr3:11297643-11272004 between cases and controls (P < .0001). The study concludes that ATG7 polymorphisms are among the risk factors for CAD in the subjects from Pakistan. The study thus highlights the novel risk factors for high incidents of the disease and reported for the first time to the best of our knowledge.
Competing Interests: The authors have no conflicts of interest to disclose.
(Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.)

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