Association between ADAM33 gene polymorphism and keloid in Chinese Han population in Henan / 中华医学美学美容杂志

ABSTRACT

Objective:To investigate the association between the polymorphism in a disintegrin and metalloprotease 33 (ADAM 33) gene and keloid in the Chinese Han population from Henan Province. It may provide a new theoretical basis for the prevention and treatment of keloids at the genetic level.Methods:There were 84 patients with keloid and 78 patients with hypertrophic scar in this group.We selected 3 SNPs in ADAM33 gene and detected the sample genotypes by Mass ARRAY system to compare genotype and allele frequency differences at each locus.Results:There were no significant differences in gender and age of two groups ( P>0.05). The genotypes of 3918394 (L1) and rs574174 (ST+ 7) locus in the two groups of ADAM33 gene were consistent with the Hardy-Weinberg genetic equilibrium law ( P>0.05), while the genotypes of rs597980 (ST+ 5) locus in the two groups of ADAM33 gene were not consistent with the Hardy-Weinberg genetic equilibrium law. There was a significant difference of genotypes or alleles in L1 locus between keloid and hypertrophic scar groups ( P<0.05). No significant differences were detected of genotypes or alleles in ST+ 7 locus between two groups ( P>0.05). In addition, there was a significantly difference of GG genotype and G allele between keloid and hypertrophic scar groups ( χ2=6.387、6.117, all P<0.05). There was no significantly difference of all genotypes and alleles in ST+ 7 locus between two groups ( P>0.05). There was weak linkage disequilibrium between ST+ 7 and L1 locus in ADAM33 gene. Haplotype analysis showed that haplotype Hap2 (CA) in keloid group was much lower than hypertrophic scar group ( χ2=6.752, P<0.05). Conclusions:The polymorphism of the L1 locus in the ADAM33 gene may have significant associations with keloid in the Chinese Han population from Henan Province, while the ST+ 7 locus may have no significant associations with that. The GG genotype and G allele of L1 locus is a risk factor for keloids and increases the risk of keloids. The susceptible and protective haplotypes of keloid may exist in Chinese Han population from Henan Province.