An investigation into the \textit{{MMP}1} gene promoter region polymorphism - 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients

Garza Gómez, Jorge y Cerda Flores, Ricardo M. y Gómez Flores, Minerva y Salas Alanís, Julio C. y Ocampo Candiani, Jorge y Martínez Garza, Laura E. y South, Andrew P. y Gallardo Blanco, Hugo L. (2014) An investigation into the \textit{{MMP}1} gene promoter region polymorphism - 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. International Journal of Dermatology, 53 (8). pp. 985-990. ISSN 00119059

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URL o página oficial: http://doi.wiley.com/10.1111/ijd.12499

Resumen

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 {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, {RDEBsev} 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.

Tipo de elemento:

Article

Palabras claves no controlados:

Estudios de casos y controles; Epidermólisis bullosa distrófica; Frecuencia génica; Genotipo; Metaloproteinasa de matriz 1; México; Polimorfismo; Nucleótido único; Regiones promotoras; Genética; Índice de gravedad de la enfermedad

Materias:

CONACYT > Medicina y Ciencias de la Salud

Divisiones:

Medicina

Usuario depositante:

Dr.C. Hugo Gallardo Blanco

Creadores:

Creador	Email	ORCID
Garza Gómez, Jorge	NO ESPECIFICADO	NO ESPECIFICADO
Cerda Flores, Ricardo M.	NO ESPECIFICADO	NO ESPECIFICADO
Gómez Flores, Minerva	NO ESPECIFICADO	NO ESPECIFICADO
Salas Alanís, Julio C.	NO ESPECIFICADO	NO ESPECIFICADO
Ocampo Candiani, Jorge	jocampo2000@yahoo.com.mx	orcid.org/0000-0002-0213-0031
Martínez Garza, Laura E.	NO ESPECIFICADO	NO ESPECIFICADO
South, Andrew P.	NO ESPECIFICADO	NO ESPECIFICADO
Gallardo Blanco, Hugo L.	hugo.gallardobl@uanl.edu.mx	orcid.org/0000-0002-7816-4967