Genetic association of the COL1A1 gene promoter ?1997 G/T (rs1107946) andSp1 +1245 G/T (rs1800012) polymorphisms and keloid scars in a Jeddah population

Sabah A. LINJAWI; Sanaa E. TORK; Risa M. SHABIAH

Makale detayları

Genetic association of the COL1A1 gene promoter ?1997 G/T (rs1107946) andSp1 +1245 G/T (rs1800012) polymorphisms and keloid scars in a Jeddah population

Yazarlar:

Sabah A. LINJAWI | Sanaa E. TORK | Risa M. SHABIAH

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2016 Vol.46 Issue 2, pp.414-423

Belge Tipi:

Makale

Yayın Tarihi:

3/2016

Belge Dili:

Türkçe

Document ID (Org No.):

2000752213

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Özet:

 

Background/aim: Scars develop at the end of the natural wound-healing process and are characterized by excessive collagen deposition, particularly types I and III collagen. This study aimed to investigate the genetic association of COL1A1 ?1997 G/T (rs1107946) and COL1A1 Sp1 +1245 G/T (rs1800012) polymorphisms with the incidence of scars.   Materials and methods: A case-control association study was conducted with 84 volunteers from Jeddah, Saudi Arabia (47 patients and 37 controls). The allele frequency distribution and nucleotide genotypes of ?1997 G/T, +1245 G/T were ascertained by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis.  Results: Our results indicated that the distribution of COL1A1 (rs1107946) genotypes was significantly different between patients and controls (P = 0.00). The incidence of COL1A1 (rs1107946) genotype GG was significantly associated with a risk of scars. The distribution of the (rs1107946) genotype was drastically higher in women with scars (P= 0.00). One haplotype block in COL1A1 was documented by the pair-wise linkage disequilibrium between the single nucleotide polymorphisms1397645907(SNPs). The frequency of the GG haplotype constructed by the two SNPs was robustly high and associated with risk of scars.  Conclusion: Our results strengthen the evidence for the association between polymorphisms of ?1997 G/T, +1245 G/T of the COL1A1 gene in the genetic etiology of keloid scars.

Makale detayları

Genetic association of the COL1A1 gene promoter ?1997 G/T (rs1107946) andSp1 +1245 G/T (rs1800012) polymorphisms and keloid scars in a Jeddah population

Yazarlar: Sabah A. LINJAWI | Sanaa E. TORK | Risa M. SHABIAH

Yayıncı: TUBITAK

Dergi: Turkish Journal of Medical Sciences 2016 Vol.46 Issue 2, pp.414-423

Belge Tipi: Makale

Yayın Tarihi: 3/2016

Belge Dili: Türkçe

Document ID (Org No.): 2000752213

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

Sayı

Yazarlar:

Sabah A. LINJAWI | Sanaa E. TORK | Risa M. SHABIAH

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2016 Vol.46 Issue 2, pp.414-423

Belge Tipi:

Makale

Yayın Tarihi:

3/2016

Belge Dili:

Türkçe

Document ID (Org No.):

2000752213

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144