Farag Azza G A, Khaled Hesham N, Hammam Mostafa A, Elshaib Mustafa Elsayed, Tayel Nermin Reda, Hommos Sahar Elsoudy Ibrahim, El Gayed Eman Masoud Abd
Dermatology, Andrology and STDs Department, Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
Clin Cosmet Investig Dermatol. 2020 Aug 26;13:649-656. doi: 10.2147/CCID.S253603. eCollection 2020.
Keloids represent chronic fibroproliferative skin disorders in which there is deposition of extracellular components, especially type 1 collagen, fibronectin and elastin, in excessive amounts. NEDD4 is associated with fibrosis found in abnormal wound healing through increased fibroblast proliferation and regulation of type 1 collagen expression. The exact etiology of keloid formation is undefined, but the role of genetic factors was demonstrated.
To investigate the polymorphism of the NEDD4 gene rs8032158 in a sample of Egyptian patients who have keloids.
The current case-control study was conducted in 160 unrelated subjects; 100 keloid patients and 60 ages and sex coincided with apparently healthy controls. All subjects underwent a complete history, and weight and length were measured to calculate body mass index (BMI). The Vancouver Scar Scale (VSS) was used to assess keloid severity. An analysis of the polymorphism of the NEDD4 gene rs8032158 T/C was performed using taqman allelic discrimination (real-time PCR).
The rs8032158 CC genotype was observed significantly in keloid patients and increased the risk of keloid development by approximately 2 times (p = 0.003, OR = 1.80). The C allele significantly increased the risk of keloid development by approximately 2 times (P = 0.002, OR = 2.08). The carriers of the CC genotype were significantly associated with severe keloid form and with the highest VSS values.
The polymorphism of the NEDD4 gene rs8032158 could participate in the formation of keloids in the Egyptian population. The NEDD4 rs8032158 CC genotype may have a role in keloid severity.
瘢痕疙瘩是一种慢性纤维增生性皮肤病，其细胞外成分，尤其是I型胶原蛋白、纤连蛋白和弹性蛋白过度沉积。NEDD4通过增加成纤维细胞增殖和调节I型胶原蛋白表达，与异常伤口愈合中的纤维化有关。瘢痕疙瘩形成的确切病因尚不清楚，但已证实遗传因素的作用。
研究埃及瘢痕疙瘩患者样本中NEDD4基因rs8032158的多态性。
本病例对照研究纳入160名无亲缘关系的受试者；100名瘢痕疙瘩患者和60名年龄和性别相匹配的明显健康对照。所有受试者均接受完整病史询问，并测量体重和身高以计算体重指数（BMI）。采用温哥华瘢痕量表（VSS）评估瘢痕疙瘩严重程度。使用Taqman等位基因鉴别法（实时PCR）对NEDD4基因rs8032158 T/C的多态性进行分析。
瘢痕疙瘩患者中rs8032158 CC基因型显著多见，瘢痕疙瘩发生风险增加约2倍（p = 0.003，OR = 1.80）。C等位基因使瘢痕疙瘩发生风险显著增加约2倍（P = 0.002，OR = 2.08）。CC基因型携带者与严重瘢痕疙瘩形式及最高VSS值显著相关。
NEDD4基因rs8032158的多态性可能参与埃及人群瘢痕疙瘩的形成。NEDD4 rs8032158 CC基因型可能在瘢痕疙瘩严重程度中起作用。
