Intractable Rare Dis Res. 2020;9(1):40-42. (DOI: 10.5582/irdr.2020.01013)

Replication study of four keloid-associated polymorphisms in patients of European descent - a single centre study

Dmytrzak A, Boroń A, Łoniewska B, Clark JSC, Kaczmarczyk M, Ciechanowicz A


Keloid is defined as a benign dermal fibro-proliferative growth that extends outside the original wound and invades adjacent dermal tissue. Its pathogenesis is complex and much evidence suggests the influence of genetic factors, including the rs873549, rs1511412, rs940187 and rs8032158 polymorphisms associated with keloid risk in Japanese patients. The aim of our study was to investigate possible associations between rs873549, rs1511412, rs940187 and rs8032158 variants and the risk of keloid in Polish patients of European descent. The genetic polymorphisms were identified by sequencing genomic DNA extracted from peripheral blood leukocytes from 86 keloid patients and from newborn cord blood leukocytes from 100 newborns as a control group. No significant differences (p > 0.05) in the distributions of rs873549, rs1511412, rs940187 and rs8032158 alleles were found between keloid patients and newborn controls (26.7% vs. 25.5%, 9.9% vs.7.0%, 19.8% vs. 12.5%, and 41.9% vs. 33.5%, respectively). Logistic regression with adjustment for gender revealed that only the CC homozygous genotype of rs8032158 polymorphism was significantly more frequent in keloid patients as compared with controls (19.8% vs. 11.0%, respectively). Our results suggest that in contrast to Asian populations only the rs8032158 polymorphism at locus 15q21.3 is associated with the susceptibility to keloid scarring in patients of European descent.

KEYWORDS: association study, genetic polymorphism, Caucasians, keloid

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