Dmytrzak Andrzej, Boroń Agnieszka, Łoniewska Beata, Clark Jeremy S C, Kaczmarczyk Mariusz, Ciechanowicz Andrzej
Aesthetic Med, Szczecin, Poland.
Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, Poland.
Intractable Rare Dis Res. 2020 Feb;9(1):40-42. doi: 10.5582/irdr.2020.01013.
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 ( > 0.05) in the distributions of rs873549, rs1511412, rs940187 and rs8032158 alleles were found between keloid patients and newborn controls (26.7% . 25.5%, 9.9% .7.0%, 19.8% . 12.5%, and 41.9% . 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% . 11.0%, respectively). Our results suggest that in contrast to Asian populations only the rs8032158 polymorphism at 15q21.3 is associated with the susceptibility to keloid scarring in patients of European descent.
瘢痕疙瘩被定义为一种良性真皮纤维增生性肿物，其超出原始伤口范围并侵入邻近的真皮组织。其发病机制复杂，大量证据表明遗传因素的影响，包括与日本患者瘢痕疙瘩风险相关的rs873549、rs1511412、rs940187和rs8032158多态性。我们研究的目的是调查rs873549、rs1511412、rs940187和rs8032158变体与欧洲血统波兰患者瘢痕疙瘩风险之间可能存在的关联。通过对从86例瘢痕疙瘩患者外周血白细胞以及作为对照组的100例新生儿脐带血白细胞中提取的基因组DNA进行测序，确定了基因多态性。在瘢痕疙瘩患者和新生儿对照组之间，未发现rs873549、rs1511412、rs940187和rs8032158等位基因分布存在显著差异（分别为26.7% 对25.5%、9.9% 对7.0%、19.8% 对12.5%、41.9% 对33.5%）。经性别调整的逻辑回归分析显示，与对照组相比，rs8032158多态性的CC纯合基因型在瘢痕疙瘩患者中显著更常见（分别为19.8% 对11.0%）。我们的结果表明，与亚洲人群不同，仅15q21.3处的rs8032158多态性与欧洲血统患者瘢痕疙瘩形成的易感性相关。
