title: An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients.
abstract: BACKGROUND
  Recessive dystrophic epidermolysis bullosa (RDEB) is a severe genetic skin blistering disorder caused by mutations in the gene COL7A1 encoding type VII 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 RDEBother-generalized (RDEB-O) to the more aggressive phenotype described as RDEBsevere-generalized (RDEB-sev gen). However, interfamilial and interindividual differences in subjects with identical COL7A1 mutations suggest the presence of modifier elements, which may influence severity. There is a single nucleotide polymorphism (SNP) at the promoter of the MMP1 gene-encoding matrix metalloproteinase type 1, which has been studied as a genetic disease modifier in different patient cohorts with different findings.
  
  
  METHODS
  We tested the SNP in 30 patients with RDEB and 130 controls whose four grandparents were born in northeastern Mexico. Patients were clinically classified as RDEB-sev gen and RDEB-O by three dermatologists. The SNPStats, RXC, and SPSS software were used to perform statistical testing.
  
  
  RESULTS
  The allele frequencies for 2G were 0.607, 0.562, and 0.642 for RDEB-O, RDEB-sev gen, and the control group, respectively. When the genotype frequencies were compared, there was no significant difference between RDEB-sev gen (OR = 0.38, CI 95% 0.12-1.21), RDEB-O (OR = 1.03, CI 95% 0.21-4.96), and the control group.
  
  
  CONCLUSIONS
  We found no significant association in relation to the severity of the study subjects and the SNP at the promoter of the MMP1 gene.
authors.affiliation: Department of Dermatology, Universidad Autónoma de Nuevo León, Hospital Universitario "Jose E. González", Monterrey, Mexico.
authors.forename: Jorge
authors.initials: J
authors.lastname: Garza-Gómez
authors.forename: Ricardo M
authors.initials: RM
authors.lastname: Cerda-Flores
authors.forename: Minerva
authors.initials: M
authors.lastname: Gómez-Flores
authors.forename: Julio C
authors.initials: JC
authors.lastname: Salas-Alanís
authors.forename: Jorge
authors.initials: J
authors.lastname: Ocampo-Candiani
authors.forename: Laura E
authors.initials: LE
authors.lastname: Martínez-Garza
authors.forename: Andrew P
authors.initials: AP
authors.lastname: South
authors.forename: Hugo L
authors.initials: HL
authors.lastname: Gallardo-Blanco
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D020781:Matrix Metalloproteinase 1 / Q000235:genetics*; D008800:Mexico; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C522360:MMP1 protein, human; D020781:Matrix Metalloproteinase 1