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

Abstract

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. 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. 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 polymorphisms(SNPs). The frequency of the GG haplotype constructed by the two SNPs was robustly high and associated with risk of scars. 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.