{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:32:42Z","timestamp":1777660362237,"version":"3.51.4"},"reference-count":28,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"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":[[2019,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Congenital heart defects (CHDs) are the most common type of birth defects and a major cause of infant mortality. Although knowledge of genetic risk variants for CHDs is scarce, most cases of CHDs are considered to be due to multifactorial inheritance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To analyze the association of 14 single nucleotide polymorphic variants previously associated with a risk of CHDs in a Mexican population with isolated CHDs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      DNA samples obtained from healthy subjects and from subjects with isolated atrial, ventricular, or atrioventricular septal defects living in Northeastern Mexico were analyzed by real time-polymerase chain reaction for allelic discrimination of genetic variants of the genes\n                      <jats:italic toggle=\"yes\">TBX1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">TBX20<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">ASTX-18-AS1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">AXIN1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">MTHFR<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">NKX2.5<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">BMP4<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">NFATc1<\/jats:italic>\n                      . The odds ratios (ORs) for allele and genotype frequencies and inheritance models were obtained.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Forty-two patients and 138 controls were included. Two variants were found to confer a risk of CHDs: variant rs4720169 of\n                      <jats:italic toggle=\"yes\">TBX20<\/jats:italic>\n                      in which the OR for the heterozygous state was 1.88 (95% confidence interval [CI]: 1.12-3.14,\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.010), whereas the OR for the homozygous state was 3.82 (95% CI: 1.18-12.3,\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.010); and variant rs12921862 of\n                      <jats:italic toggle=\"yes\">AXIN1<\/jats:italic>\n                      in which the OR for the heterozygous state was 4.15 (95% CI: 2.42-7.10;\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009\u2264\u20090.001), whereas the OR for the homozygous state was 9.2 (95% CI: 1.31-64.7,\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.008) for allele A.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      Genetic variants of the\n                      <jats:italic toggle=\"yes\">TBX20<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">AXIN1<\/jats:italic>\n                      genes confer a significantly increased risk of congenital septal heart defects in a population from Northeastern Mexico.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2019.0029","type":"journal-article","created":{"date-parts":[[2019,9,16]],"date-time":"2019-09-16T11:54:16Z","timestamp":1568634856000},"page":"664-670","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic Variants at the rs4720169 Locus of\n                    <i>TBX20<\/i>\n                    and the rs12921862 Locus of\n                    <i>AXIN1<\/i>\n                    May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study"],"prefix":"10.1177","volume":"23","author":[{"given":"Maria Dolores","family":"Hern\u00e1ndez-Almaguer","sequence":"first","affiliation":[{"name":"Facultad de Medicina Mexicali, Universidad Aut\u00f3noma de Baja California, Mexicali, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geovana","family":"Calvo-Anguiano","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Hospital Universitario \u201cDr. Jos\u00e9 E. Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo M.","family":"Cerda-Flores","sequence":"additional","affiliation":[{"name":"Facultad de Enfermer\u00eda, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor M.","family":"Salinas-Torres","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Hospital Universitario \u201cDr. Jos\u00e9 E. Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Orozco-Galicia","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Hospital Universitario \u201cDr. Jos\u00e9 E. Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Glenn","sequence":"additional","affiliation":[{"name":"Facultad de Medicina Mexicali, Universidad Aut\u00f3noma de Baja California, Mexicali, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime","family":"Garc\u00eda-Guerra","sequence":"additional","affiliation":[{"name":"Hospital Regional Materno Infantil, Monterrey, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerardo","family":"S\u00e1nchez-Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Hospital Universitario \u201cDr. Jos\u00e9 E. Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Lugo-Trampe","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Hospital Universitario \u201cDr. Jos\u00e9 E. Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura E.","family":"Mart\u00ednez-Garza","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Hospital Universitario \u201cDr. Jos\u00e9 E. Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey, Mexico."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,9,12]]},"reference":[{"key":"e_1_3_5_2_1","first-page":"5","article-title":"Prevalence of 677T polymorphism of the MTHFR gene in a population sample from Nuevo Le\u00f3n, M\u00e9xico [in Spanish]","volume":"50","author":"Aguirre-Rodr\u00edguez AA","year":"2008","unstructured":"Aguirre-Rodr\u00edguez AA, , Mart\u00ednez-de Villarreal LE, , Velazco-Campos MR, et al. (2008) Prevalence of 677T polymorphism of the MTHFR gene in a population sample from Nuevo Le\u00f3n, M\u00e9xico [in Spanish]. 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