Searle Tamara, Ali Faisal R, Al-Niaimi Firas
University of Birmingham Medical School, Birmingham, UK.
Dermatological Surgery & Laser Unit, St John's Institute of Dermatology, Guy's Hospital Cancer Centre, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Scars Burn Heal. 2020 Aug 13;6:2059513120941704. doi: 10.1177/2059513120941704. eCollection 2020 Jan-Dec.
The pathophysiology of keloid scars is still not fully understood and a universally reliable effective treatment has not been identified. Pharmacogenetics explores how drug response to a particular therapy can relate to genetic variations.
To investigate how pharmacogenetics could be applied to keloid scars and the relevance of this to clinical practice.
We reviewed the literature and discuss our current knowledge of pharmacogenomics in the treatment of keloid scars. A literature search was performed using the terms 'Pharmacogenetics', 'Pharmacogenomics', 'Keloid' and 'Scar'. We searched the PubMed, MEDLINE and EMBASE databases to find the relevant articles. Only articles in English were chosen. The level of evidence was evaluated and selected accordingly listing the studies with the highest level of evidence first.
Treatments including corticosteroid injections and 5-fluorouracil can be effective in some patients, but less so in others. Polymorphisms of the glucocorticoid receptor and variants of , miR-21-5p and NF-κβ might be responsible for different responses to treatments used in keloid scars such as 5-fluorouracil. Small molecule inhibitors might be utilised to target other implicated genes.
Pharmacogenetics aims to produce the most efficacious patient outcomes while reducing adverse effects. Understanding the pharmacogenetics of keloid scars could lead to a new era of personalised medicine in the treatment of keloid scars. At present, there is some evidence (level 3b/4) to suggest genetic variations that are responsible to drug response in keloids, but further research in this field is required.
The varied response to similar therapeutic treatments in keloids has prompted the consideration of the role of genetic variants on response in the form of pharmacogenetics. Pharmacogenetics refers to drugs and their metabolism and action based on genetic influences. The ideal scenario would involve the selection of treatment based on the individual's specific genetic variants to ensure maximum efficacy with minimal toxicity. Some evidence currently points to genetic variations in some keloid patients that might be of relevance to the treating clinician.
瘢痕疙瘩的病理生理学仍未完全明确，尚未找到一种普遍可靠的有效治疗方法。药物遗传学探讨药物对特定治疗的反应如何与基因变异相关。
研究药物遗传学如何应用于瘢痕疙瘩以及其与临床实践的相关性。
我们回顾了文献并讨论了目前关于药物基因组学在瘢痕疙瘩治疗中的认识。使用“药物遗传学”“药物基因组学”“瘢痕疙瘩”和“瘢痕”等术语进行文献检索。我们检索了PubMed、MEDLINE和EMBASE数据库以查找相关文章。仅选择英文文章。评估并相应选择证据水平，首先列出证据水平最高的研究。
包括皮质类固醇注射和5-氟尿嘧啶在内的治疗方法对一些患者可能有效，但对另一些患者效果较差。糖皮质激素受体的多态性以及miR-21-5p和NF-κβ的变体可能是导致瘢痕疙瘩患者对5-氟尿嘧啶等治疗产生不同反应的原因。小分子抑制剂可能用于靶向其他相关基因。
药物遗传学旨在在减少不良反应的同时产生最有效的患者治疗效果。了解瘢痕疙瘩的药物遗传学可能会开创瘢痕疙瘩治疗个性化医疗的新时代。目前，有一些证据（3b/4级）表明基因变异与瘢痕疙瘩对药物的反应有关，但该领域需要进一步研究。
瘢痕疙瘩对类似治疗方法的反应各异，这促使人们考虑以药物遗传学的形式研究基因变异对反应的作用。药物遗传学是指基于基因影响的药物及其代谢和作用。理想的情况是根据个体的特定基因变异选择治疗方法，以确保最大疗效和最小毒性。目前一些证据表明某些瘢痕疙瘩患者的基因变异可能对临床医生的治疗有参考价值。
