{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T03:26:57Z","timestamp":1787887617048,"version":"build-2784847793"},"reference-count":45,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Arginase I, encoded by the\n                      <jats:italic toggle=\"yes\">ARG1<\/jats:italic>\n                      gene, is an enzyme that catalyzes the conversion of arginine to ornithine in the urea cycle; mutations in this gene has recently been reported to be associated with dilated cardiomyopathy (DCM) in Pakistan. The present study aimed to investigate the relationship between\n                      <jats:italic toggle=\"yes\">ARG1<\/jats:italic>\n                      gene mutations and DCM in the Han Chinese population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      A total of 488 DCM cases and 924 matched-healthy controls were recruited. All subjects were genotyped for 12 tag single nucleotide polymorphisms (SNPs) within the\n                      <jats:italic toggle=\"yes\">ARG1<\/jats:italic>\n                      gene. Genetic association studies, including SNP and haplotype analyses, were performed. Further analyses were conducted to examine the correlations between the associated SNPs and specific clinical characteristics.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Only the rs2781666 and rs2781667 loci in the\n                      <jats:italic toggle=\"yes\">ARG1<\/jats:italic>\n                      gene were found to be significantly associated with DCM compared to the healthy controls. The risk of DCM at both of these loci for T allele carriers was \u223c1.42-fold higher than that for carriers of the alternative alleles. There were significant differences in end-diastolic interventricular septal diameter, end-diastolic left ventricular posterior wall diameter, left ventricular end-diastolic diameter, left ventricular end-systolic diameter, and left ventricular ejection fraction among the genotype distributions of both SNPs. Furthermore, we found that the T alleles at the rs2781666 and rs2781667 loci were significantly associated with DCM in gender subgroups and the subgroup of patients &lt;58 years of age. The haplotype T-T (rs2781666-rs2781667) also showed a significant association with DCM.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      Our results support the hypothesis that alleles and haplotypes of the\n                      <jats:italic toggle=\"yes\">ARG1<\/jats:italic>\n                      gene are significantly involved in the etiology of DCM in the Han Chinese population, but further research is necessary to elucidate the mechanism governing this association.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2020.0080","type":"journal-article","created":{"date-parts":[[2020,7,28]],"date-time":"2020-07-28T17:56:41Z","timestamp":1595959001000},"page":"584-591","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Common Variants in the\n                    <i>ARG1<\/i>\n                    Gene Contribute to the Risk of Dilated Cardiomyopathy in the Han Chinese Population"],"prefix":"10.1177","volume":"24","author":[{"given":"Chaomin","family":"Li","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Medicine, Honghui Hospital, Xi'an Jiaotong University, Xi'an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Honghui Hospital, Xi'an Jiaotong University, Xi'an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanbo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Honghui Hospital, Xi'an Jiaotong University, Xi'an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhang","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Xi'an Central Hospital, Xi'an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Honghui Hospital, Xi'an Jiaotong University, Xi'an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Honghui Hospital, Xi'an Jiaotong University, Xi'an, 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