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

Jorge Garza-Gómez, Ricardo M. Cerda-Flores, Minerva Gómez-Flores, Julio C. Salas-Alanís, Jorge Ocampo-Candiani, Laura E. Martínez-Garza, Andrew P. South, Hugo L. Gallardo-Blanco

Research output: Contribution to journalArticle

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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. Conclusion: We found no significant association in relation to the severity of the study subjects and the SNP at the promoter of the MMP1 gene. © 2014 The International Society of Dermatology.
Original languageEnglish
Pages (from-to)985-990
Number of pages6
JournalInternational Journal of Dermatology
DOIs
Publication statusPublished - 1 Jan 2014
Externally publishedYes

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Epidermolysis Bullosa Dystrophica
Genetic Promoter Regions
Genes
Single Nucleotide Polymorphism
Mutation
Collagen Type VII
Control Groups
Matrix Metalloproteinase 1
Inborn Genetic Diseases
Dermatology
Mexico
Gene Frequency
Software
Genotype
Phenotype
Skin

Cite this

Garza-Gómez, J., Cerda-Flores, R. M., Gómez-Flores, M., Salas-Alanís, J. C., Ocampo-Candiani, J., Martínez-Garza, L. E., ... Gallardo-Blanco, H. L. (2014). An investigation into the MMP1 gene promoter region polymorphism - 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. International Journal of Dermatology, 985-990. https://doi.org/10.1111/ijd.12499
Garza-Gómez, Jorge ; Cerda-Flores, Ricardo M. ; Gómez-Flores, Minerva ; Salas-Alanís, Julio C. ; Ocampo-Candiani, Jorge ; Martínez-Garza, Laura E. ; South, Andrew P. ; Gallardo-Blanco, Hugo L. / An investigation into the MMP1 gene promoter region polymorphism - 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. In: International Journal of Dermatology. 2014 ; pp. 985-990.
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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. Conclusion: We found no significant association in relation to the severity of the study subjects and the SNP at the promoter of the MMP1 gene. {\circledC} 2014 The International Society of Dermatology.",
author = "Jorge Garza-G{\'o}mez and Cerda-Flores, {Ricardo M.} and Minerva G{\'o}mez-Flores and Salas-Alan{\'i}s, {Julio C.} and Jorge Ocampo-Candiani and Mart{\'i}nez-Garza, {Laura E.} and South, {Andrew P.} and Gallardo-Blanco, {Hugo L.}",
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Garza-Gómez, J, Cerda-Flores, RM, Gómez-Flores, M, Salas-Alanís, JC, Ocampo-Candiani, J, Martínez-Garza, LE, South, AP & Gallardo-Blanco, HL 2014, 'An investigation into the MMP1 gene promoter region polymorphism - 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients', International Journal of Dermatology, pp. 985-990. https://doi.org/10.1111/ijd.12499

An investigation into the MMP1 gene promoter region polymorphism - 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. / Garza-Gómez, Jorge; Cerda-Flores, Ricardo M.; Gómez-Flores, Minerva; Salas-Alanís, Julio C.; Ocampo-Candiani, Jorge; Martínez-Garza, Laura E.; South, Andrew P.; Gallardo-Blanco, Hugo L.

In: International Journal of Dermatology, 01.01.2014, p. 985-990.

Research output: Contribution to journalArticle

TY - JOUR

T1 - An investigation into the MMP1 gene promoter region polymorphism - 1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients

AU - Garza-Gómez, Jorge

AU - Cerda-Flores, Ricardo M.

AU - Gómez-Flores, Minerva

AU - Salas-Alanís, Julio C.

AU - Ocampo-Candiani, Jorge

AU - Martínez-Garza, Laura E.

AU - South, Andrew P.

AU - Gallardo-Blanco, Hugo L.

PY - 2014/1/1

Y1 - 2014/1/1

N2 - 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. Conclusion: We found no significant association in relation to the severity of the study subjects and the SNP at the promoter of the MMP1 gene. © 2014 The International Society of Dermatology.

AB - 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. Conclusion: We found no significant association in relation to the severity of the study subjects and the SNP at the promoter of the MMP1 gene. © 2014 The International Society of Dermatology.

U2 - 10.1111/ijd.12499

DO - 10.1111/ijd.12499

M3 - Article

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EP - 990

JO - International Journal of Dermatology

JF - International Journal of Dermatology

SN - 0011-9059

ER -