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An investigation into the MMP 1 gene promoter region polymorphism – 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients
Author(s) -
GarzaGómez Jorge,
CerdaFlores Ricardo M.,
GómezFlores Minerva,
SalasAlanís Julio C.,
OcampoCandiani Jorge,
MartínezGarza Laura E.,
South Andrew P.,
GallardoBlanco Hugo L.
Publication year - 2014
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.12499
Subject(s) - medicine , snp , single nucleotide polymorphism , allele , genotype , gene , gastroenterology , genetics , dermatology , biology
Background Recessive dystrophic epidermolysis bullosa ( RDEB ) is a severe genetic skin blistering disorder caused by mutations in the gene COL 7A1 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 RDEB other‐generalized ( RDEB ‐ O ) to the more aggressive phenotype described as RDEB severe‐generalized ( RDEB ‐ sev gen ). However, interfamilial and interindividual differences in subjects with identical COL 7A1 mutations suggest the presence of modifier elements, which may influence severity. There is a single nucleotide polymorphism ( SNP ) at the promoter of the MMP 1 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 SNPS tats, 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. Conclusion We found no significant association in relation to the severity of the study subjects and the SNP at the promoter of the MMP 1 gene.