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肥厚性瘢痕形成的遗传风险因素。

Genetic risk factors for hypertrophic scar development.

作者信息

Thompson Callie M, Hocking Anne M, Honari Shari, Muffley Lara A, Ga Maricar, Gibran Nicole S

机构信息

From the Department of Surgery, University of Washington Regional Burn Center, Harborview Medical Center, Seattle.

出版信息

J Burn Care Res. 2013 Sep-Oct;34(5):477-82. doi: 10.1097/BCR.0b013e3182a2aa41.

DOI:10.1097/BCR.0b013e3182a2aa41
PMID:23966119
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3786175/
Abstract

Hypertrophic scars (HTSs) occur in 30 to 72% patients after thermal injury. Risk factors include skin color, female sex, young age, burn site, and burn severity. Recent correlations between genetic variations and clinical conditions suggest that single-nucleotide polymorphisms (SNPs) may be associated with HTS formation. The authors hypothesized that an SNP in the p27 gene (rs36228499) previously associated with decreased restenosis after coronary stenting would be associated with lower Vancouver Scar Scale (VSS) measurements and decreased itching. Patient and injury characteristics were collected from adults with thermal burns. VSS scores were calculated at 4 to 9 months after injury. Genotyping was performed using real-time polymerase chain reaction. Logistic regression was used to determine risk factors for HTS as measured by a VSS score >7. Three hundred subjects had a median age of 39 years (range, 18-91); 69% were male and median burn size was 7% TBSA (range, 0.25-80). Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. HTS formation was associated with American Indian/Alaskan Native race (odds ratio [OR], 12.2; P = .02), facial burns (OR, 9.4; P = .04), and burn size ≥20% TBSA (OR, 1.99; P = .03). Although the p27 SNP may protect against vascular fibroproliferation, the effect cannot be generalized to cutaneous scars. This study suggests that American Indian/Alaskan Native race, facial burns, and higher %TBSA are independent risk factors for HTS. The American Indian/Alaskan Native association suggests that there are potentially yet-to-be-identified genetic variants.

摘要

肥厚性瘢痕(HTS)在30%至72%的热损伤患者中出现。危险因素包括肤色、女性、年轻、烧伤部位和烧伤严重程度。近期基因变异与临床状况之间的相关性表明,单核苷酸多态性(SNP)可能与HTS形成有关。作者推测,先前与冠状动脉支架置入术后再狭窄降低相关的p27基因中的一个SNP(rs36228499)可能与较低的温哥华瘢痕量表(VSS)测量值和瘙痒减轻有关。收集成年热烧伤患者的患者和损伤特征。在受伤后4至9个月计算VSS评分。使用实时聚合酶链反应进行基因分型。采用逻辑回归确定以VSS评分>7衡量的HTS危险因素。300名受试者的中位年龄为39岁(范围18 - 91岁);69%为男性,中位烧伤面积为7% TBSA(范围0.25 - 80)。与文献一致,p27变异SNP的等位基因频率为40%,但在任何遗传模型中均与HTS形成减少或瘙痒评分降低无关。HTS形成与美洲印第安人/阿拉斯加原住民种族(优势比[OR],12.2;P = 0.02)、面部烧伤(OR,9.4;P = 0.04)和烧伤面积≥20% TBSA(OR,1.99;P = 0.03)相关。尽管p27 SNP可能预防血管纤维增生,但这种作用不能推广到皮肤瘢痕。本研究表明,美洲印第安人/阿拉斯加原住民种族、面部烧伤和较高的TBSA百分比是HTS的独立危险因素。美洲印第安人/阿拉斯加原住民的关联表明可能存在尚未确定的基因变异。

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