{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T18:32:03Z","timestamp":1698345123682},"reference-count":31,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,6,5]],"date-time":"2014-06-05T00:00:00Z","timestamp":1401926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Recessive dystrophic epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content>) is a severe genetic skin blistering disorder caused by mutations in the gene <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> encoding type <jats:styled-content style=\"fixed-case\">VII<\/jats:styled-content> collagen. Most of the patients' clinical severity depends in part on the nature and location of the mutations, ranging from the mild form described as <jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content><jats:italic>other\u2010generalized<\/jats:italic> (<jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content>\u2010<jats:italic>O<\/jats:italic>) to the more aggressive phenotype described as <jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content><jats:italic>severe\u2010generalized<\/jats:italic> (<jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content>\u2010<jats:italic>sev gen<\/jats:italic>). However, interfamilial and interindividual differences in subjects with identical <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> mutations suggest the presence of modifier elements, which may influence severity. There is a single nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) at the promoter of the <jats:italic><jats:styled-content style=\"fixed-case\">MMP<\/jats:styled-content>1<\/jats:italic> gene\u2010encoding matrix metalloproteinase type 1, which has been studied as a genetic disease modifier in different patient cohorts with different findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We tested the <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> in 30 patients with <jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content> and 130 controls whose four grandparents were born in northeastern Mexico. Patients were clinically classified as <jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content>\u2010<jats:italic>sev gen<\/jats:italic> and <jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content>\u2010<jats:italic>O<\/jats:italic> by three dermatologists. The <jats:styled-content style=\"fixed-case\">SNPS<\/jats:styled-content>tats, <jats:styled-content style=\"fixed-case\">RXC<\/jats:styled-content>, and <jats:styled-content style=\"fixed-case\">SPSS<\/jats:styled-content> software were used to perform statistical testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The allele frequencies for 2G were 0.607, 0.562, and 0.642 for <jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content>\u2010<jats:italic>O<\/jats:italic>,<jats:styled-content style=\"fixed-case\"> RDEB<\/jats:styled-content>\u2010<jats:italic>sev gen<\/jats:italic>, and the control group, respectively. When the genotype frequencies were compared, there was no significant difference between <jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content>\u2010<jats:italic>sev gen<\/jats:italic> (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a00.38, <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 95% 0.12\u20131.21), <jats:styled-content style=\"fixed-case\">RDEB<\/jats:styled-content>\u2010<jats:italic>O<\/jats:italic> (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a01.03, <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 95% 0.21\u20134.96), and the control group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We found no significant association in relation to the severity of the study subjects and the <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> at the promoter of the <jats:italic><jats:styled-content style=\"fixed-case\">MMP<\/jats:styled-content>1<\/jats:italic> gene.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.12499","type":"journal-article","created":{"date-parts":[[2014,6,5]],"date-time":"2014-06-05T08:37:00Z","timestamp":1401957420000},"page":"985-990","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["An investigation into the <i><scp>MMP<\/scp>1<\/i> gene promoter region polymorphism \u2013 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients"],"prefix":"10.1111","volume":"53","author":[{"given":"Jorge","family":"Garza\u2010G\u00f3mez","sequence":"first","affiliation":[{"name":"Department of Dermatology Universidad Aut\u00f3noma de Nuevo Le\u00f3n Hospital Universitario \u201cJose E. 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