Lian Zijian, Zhao Bin, Luo Wei, Liu Jun, Wang Jing, Chai Wei, Wang Yan, Ye Songqing, Ma Xinlong
Department of Orthopaedics, Tianjin Hospital Tianjin University, Tianjin, China.
Department of Orthopaedics, Chinese People's Liberation Army General Hospital, Beijing, China.
Mol Genet Genomic Med. 2025 Aug;13(8):e70125. doi: 10.1002/mgg3.70125.
Latest research on ankylosing spondylitis (AS) indicates a link between the B3GNT2, PSMG1 genes and susceptibility to AS among western populations. However, the association of these three genes with AS in eastern populations remains insufficiently explored. It is necessary to replicate these studies in other populations. Consequently, we chose tagSNPs in these three genes in the Chinese Han population to be sequenced.
We tried to find the SNP loci that are associated in both eastern and western populations through repeated experiments. Furthermore, our research extended to examining the link between these genes and the severity of AS. This study aimed to evaluate the association between the tagSNPs of B3GNT2 (rs10865331, rs6545925, rs467250), the rs4676410 SNP on GPR35, and the rs4816648 SNP of PSMG1 with AS susceptibility and disease activity in a Chinese Han population.
We collected blood samples from 497 patients with AS and 498 control subjects and sequenced 5 tagSNPs in B3GNT2, 1 tagSNP in GPR35, and 6 tagSNPs in PSMG1.
Within the five selected tagSNPs of B3GNT2, the rs10865331, rs6545925, and rs4672501 tagSNPs are associated with susceptibility to AS. Additionally, the rs4672501 SNP is not only associated with susceptibility to AS, but also with the severity of AS. For the first time, we find that the rs4676410 SNP on the GPR35 gene is associated with susceptibility to AS, but not associated with the severity of AS in the Chinese Han population. We find for the first time that the rs4816648 SNP of the PSMG1 gene is associated with both susceptibility and severity of ankylosing spondylitis.
B3GNT2 and PSMG1 genes are related to both susceptibility and severity of AS. The GPR35 gene is related to susceptibility to AS in the Chinese Han population, which corroborates the findings of research conducted in western populations.
关于强直性脊柱炎（AS）的最新研究表明，在西方人群中，B3GNT2、PSMG1基因与AS易感性之间存在联系。然而，这三个基因与东方人群AS的关联仍未得到充分研究。有必要在其他人群中重复这些研究。因此，我们选择了这三个基因在中国汉族人群中的标签单核苷酸多态性（tagSNP）进行测序。
我们试图通过重复实验找到在东西方人群中均相关的单核苷酸多态性位点（SNP）。此外，我们的研究扩展到检查这些基因与AS严重程度之间的联系。本研究旨在评估B3GNT2基因的标签单核苷酸多态性（rs10865331、rs6545925、rs467250）、GPR35基因上的rs4676410单核苷酸多态性以及PSMG1基因的rs4816648单核苷酸多态性与中国汉族人群AS易感性和疾病活动度之间的关联。
我们收集了497例AS患者和498例对照者的血样，并对B3GNT2基因中的5个标签单核苷酸多态性、GPR35基因中的1个标签单核苷酸多态性以及PSMG1基因中的6个标签单核苷酸多态性进行了测序。
在B3GNT2基因选定的5个标签单核苷酸多态性中，rs10865331、rs6545925和rs4672501标签单核苷酸多态性与AS易感性相关。此外，rs4672501单核苷酸多态性不仅与AS易感性相关，还与AS严重程度相关。我们首次发现，GPR35基因上的rs4676410单核苷酸多态性与中国汉族人群的AS易感性相关，但与AS严重程度无关。我们首次发现，PSMG1基因的rs4816648单核苷酸多态性与强直性脊柱炎的易感性和严重程度均相关。
B3GNT2和PSMG1基因与AS的易感性和严重程度均相关。GPR35基因与中国汉族人群的AS易感性相关，这证实了西方人群研究的结果。
