Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, UK.
Rheumatology (Oxford). 2023 Mar 29;62(Suppl 1):i15-i21. doi: 10.1093/rheumatology/keac695.
The prevalence and severity of SLE have been found to vary across populations of different ancestries. This review explores whether these differences can be explained by the genetic aetiology of the condition. Large genetic studies suggest that populations of different ancestry share the same risk loci but individual risk alleles are more common in some, leading to a higher prevalence and severity and an earlier onset of the condition. Despite many of the loci being shared across populations, some have been found to be ancestry specific and these are hypothesized to have undergone differential selective pressure in recent human history. Additionally, the effectiveness of some of the drugs used in SLE has been found to vary across ancestries, which might affect progression of the disease, but it is unclear whether these differences are pharmacogenetic. We concluded that to understand the full role of genetics in the risk, presentation and response to treatment of SLE, larger studies including individuals from a wider representation of ancestries will be required.
研究发现，不同种族人群的 SLE 患病率和严重程度存在差异。本综述探讨了这些差异是否可以用该疾病的遗传病因来解释。大型遗传研究表明，不同种族的人群共享相同的风险基因座，但某些人群中的个体风险等位基因更为常见，导致该疾病的患病率和严重程度更高，发病年龄更早。尽管许多基因座在人群中共享，但也发现了一些具有种族特异性的基因座，这些基因座被假设在人类近代历史上经历了不同的选择压力。此外，一些用于治疗 SLE 的药物的疗效在不同种族中也存在差异，这可能会影响疾病的进展，但尚不清楚这些差异是否与药物遗传学有关。我们得出结论，为了全面了解遗传在 SLE 的风险、表现和治疗反应中的作用，需要包括来自更广泛种族背景的个体在内的更大规模的研究。
