PMID- 35777002 OWN - NLM STAT- MEDLINE DCOM- 20220706 LR - 20231213 IS - 1536-5964 (Electronic) IS - 0025-7974 (Print) IS - 0025-7974 (Linking) VI - 101 IP - 26 DP - 2022 Jul 1 TI - Association analysis of single nucleotide polymorphisms in autophagy related 7 (ATG7) gene in patients with coronary artery disease. PG - e29776 LID - 10.1097/MD.0000000000029776 [doi] LID - e29776 AB - 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. CI - Copyright (c) 2022 the Author(s). Published by Wolters Kluwer Health, Inc. FAU - Sarosh, Moomal AU - Sarosh M AD - Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan. FAU - Nurulain, Syed Muhammad AU - Nurulain SM FAU - Shah, Syed Tahir Abbas AU - Shah STA FAU - Jadoon Khan, Muhammad AU - Jadoon Khan M FAU - Muneer, Zahid AU - Muneer Z FAU - Bibi, Nazia AU - Bibi N FAU - Shah, Syed Fawad Ali AU - Shah SFA FAU - Hussain, Sabir AU - Hussain S LA - eng PT - Journal Article DEP - 20220701 PL - United States TA - Medicine (Baltimore) JT - Medicine JID - 2985248R RN - 31C4KY9ESH (Nitric Oxide) RN - EC 6.2.1.45 (ATG7 protein, human) RN - EC 6.2.1.45 (Autophagy-Related Protein 7) SB - IM MH - Autophagy MH - *Autophagy-Related Protein 7/genetics MH - Case-Control Studies MH - *Coronary Artery Disease/genetics MH - Humans MH - Nitric Oxide MH - *Polymorphism, Single Nucleotide MH - Retrospective Studies PMC - PMC9239656 COIS- The authors have no conflicts of interest to disclose. EDAT- 2022/07/02 06:00 MHDA- 2022/07/07 06:00 PMCR- 2022/06/30 CRDT- 2022/07/01 17:52 PHST- 2022/07/01 17:52 [entrez] PHST- 2022/07/02 06:00 [pubmed] PHST- 2022/07/07 06:00 [medline] PHST- 2022/06/30 00:00 [pmc-release] AID - 00005792-202207010-00019 [pii] AID - 10.1097/MD.0000000000029776 [doi] PST - epublish SO - Medicine (Baltimore). 2022 Jul 1;101(26):e29776. doi: 10.1097/MD.0000000000029776.