Two Functional Genetic Variants and Predisposition to Keloid Scarring in Caucasians.

INTRODUCTION

Keloid is defined as a benign proliferative scar that grows beyond the confines of the original insult to the skin, invading into adjacent normal tissue. The pathogenesis of keloid is complex, and many evidences suggest the influence of genetic factors, among them the polymorphisms of the gene encoding tumor protein p53.

OBJECTIVE

To investigate the association of rs1042522 (c.215G>C, p.Arg72Pro) and rs17878362 (16-bp insertion/duplication in intron 3) variants, two most frequently analyzed functional polymorphisms and the risk of keloid in Polish patients.

MATERIALS AND METHODS

The rs1042522 and rs17878362 polymorphisms were identified by sequencing genomic DNA extracted from peripheral blood leukocytes of 86 keloid patients and from cordial blood leukocytes of 100 newborn infants consisting control group.

RESULTS

The rs1042522 and rs17878362 genotype distributions both in keloid patients and in the control group conformed to the expected Hardy-Weinberg equilibrium. No significant differences in the distribution of rs1042522 and rs17878362 alleles or genotypes have been found between keloid patients and newborn controls. There is tight, but not complete, linkage disequilibrium between rs1042522 and rs17878362 polymorphisms (' = 0.667,  = 0.448, and =0). No significant differences in the distribution of rs1042522 and rs17878362 haplotypes or diplotypes have been found between keloid patients and newborn controls.

CONCLUSIONS

Our results suggest the lack of association of rs1042522 and rs17878362 polymorphisms and their haplotypes or diplotypes with the susceptibility to keloid scarring in Polish patients.