Guedon Alexis F, Ouafdi Asmaa, Belfeki Nabil, Dellal Azeddine, Ghriss Nouha, Scheen Marc, Haidar Fadi, Espitia Olivier, Scoazec Jean-Yves, Fain Olivier, Marzac Christophe, Hermine Olivier, Solary Eric, Rossignol Julien, Mekinian Arsène
Institut Pierre Louis d'Epidémiologie et de Santé Publique, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Paris, France
Sorbonne Université Service de médecine interne, AP-HP, Hôpital Saint Antoine, Paris, France.
RMD Open. 2024 Dec 10;10(4):e004694. doi: 10.1136/rmdopen-2024-004694.
We aimed to assess the prevalence of clonal haematopoiesis (CH) in patients with giant cell arteritis (GCA) compared with controls and individuals with other autoimmune diseases (AIDs) and to identify high-risk clinical/genetic profiles that could influence disease outcomes.
In a prospective observational study at three hospitals, we included 49 patients diagnosed with GCA, 48 patients with other AIDs and 27 control participants. We used next-generation sequencing to detect clonal haematopoiesis (CH) among them.
CH was detected in 55.1% of patients with GCA, 59.3% of controls and 18.8% of patients with other AIDs. The most commonly mutated genes in GCA and control groups were and . No significant differences in CH prevalence were found between patients with GCA and controls or other AID when adjusted for age and sex. Cluster analysis revealed two distinct groups within the patients with GCA, one of which displayed a higher prevalence of TET2 and JAK2 variants, and was associated with worse prognosis.
CH is prevalent among patients with GCA but does not differ significantly from controls or other autoimmune conditions. However, specific genetic profiles, particularly mutations in TET2 and JAK2, are associated with a higher risk cluster within the GCA cohort. This observation highlights the interest of detecting CH in patients with GCA in both routine practice and clinical trials for better risk stratification. Further prospective studies are needed to determine if management tailored to the genetic profile would improve outcomes.
我们旨在评估巨细胞动脉炎（GCA）患者与对照组以及其他自身免疫性疾病（AID）患者相比克隆性造血（CH）的患病率，并确定可能影响疾病预后的高风险临床/基因特征。
在三家医院进行的一项前瞻性观察研究中，我们纳入了49例诊断为GCA的患者、48例患有其他AID的患者和27名对照参与者。我们使用下一代测序技术在他们中间检测克隆性造血（CH）。
在55.1%的GCA患者、59.3%的对照组和18.8%的其他AID患者中检测到CH。GCA组和对照组中最常发生突变的基因是 和 。在根据年龄和性别进行调整后，GCA患者与对照组或其他AID患者之间的CH患病率没有显著差异。聚类分析显示GCA患者中有两个不同的组，其中一组TET2和JAK2变异的患病率较高，且与较差的预后相关。
CH在GCA患者中很普遍，但与对照组或其他自身免疫性疾病相比没有显著差异。然而，特定的基因特征，特别是TET2和JAK2的突变，与GCA队列中的一个高风险组相关。这一观察结果凸显了在常规实践和临床试验中对GCA患者检测CH以进行更好的风险分层的意义。需要进一步的前瞻性研究来确定根据基因特征进行的管理是否会改善预后。
