An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients.

[dystrophic epidermolysis bullosa]

Recessive dystrophic epidermolysis bullosa (RDEB ) is a severe genetic skin blistering disorder caused by mutations in the gene COL 7 A 1 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 COL 7 A 1 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 .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 .The allele frequencies for 2 G 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 Â =Â 0 .38 , CI 95 % 0 .12 -1 .21 ), RDEB-O (OR Â =Â 1 .03 , CI 95 % 0 .21 -4 .96 ), and the control group .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 .

Diseases
Validation

Diseases presenting "col7a1 mutations" symptom

dystrophic epidermolysis bullosa

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