Pan Yuqin, He Bangshun, Sun Huiling, Xu Tao, Pan Bei, Wang Shukui, Mei Yanping
General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, 210006, People's Republic of China.
Department of Laboratory Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing 210006, People's Republic of China.
Pharmgenomics Pers Med. 2020 Oct 29;13:563-570. doi: 10.2147/PGPM.S275341. eCollection 2020.
Paraoxonases (PONs) are a family of orphan enzymes with multiple functions, including anti-inflammatory, antioxidative, antiatherogenic activities. Studies have suggested that genetic variations in and are associated with ischemic stroke (IS) risk; however, the conclusion remains unclear in the Chinese population.
To investigate the susceptibility of genetic variations in and to risk of IS and its subtypes, this case-control study was carried out on a Chinese population comprising 300 IS patients and 300 healthy controls. Genotypes of six genetic variations in and were identified with an improved multiplex ligase detection-reaction technique.
rs662 was associated with increased risk of IS (CT vs. TT - OR 1.79, 95% CI 1.08-2.97; =0.025). Stratified analysis for patients by sex revealed that the significant association of rs662 with IS risk was maintained in the male cohort (CT vs. TT - OR 2.59, 95% CI 1.29-5.21 [=0.009]; CT/CC vs. TT - OR 2.03, 95% CI 1.05-3.93 [=0.036]), but not in the female cohort. Analysis according to IS subtype revealed that rs662 genetic variation was an increased risk in the subcohort of patients with large-artery atherosclerosis (CT/CC vs. TT - OR 2.31, 95% CI 1.09-4.91; =0.029), but not in patients with other types of IS.
This study suggested that rs662 presented a potential risk of IS, especially for males, and this association was more obvious for large-artery atherosclerosis.
对氧磷酶（PONs）是一类具有多种功能的孤儿酶，包括抗炎、抗氧化、抗动脉粥样硬化活性。研究表明，[ 和 的基因变异与缺血性卒中（IS）风险相关；然而，在中国人群中该结论仍不明确。
为了研究 和 的基因变异对IS及其亚型风险的易感性，本病例对照研究在中国人群中进行，包括300例IS患者和300名健康对照。采用改进的多重连接酶检测反应技术鉴定 和 中6个基因变异的基因型。
rs662与IS风险增加相关（CT与TT相比 - 比值比1.79，95%置信区间1.08 - 2.97；P = 0.025）。按性别对患者进行分层分析显示，rs662与IS风险的显著关联在男性队列中仍然存在（CT与TT相比 - 比值比2.59，95%置信区间1.29 - 5.21 [P = 0.009]；CT/CC与TT相比 - 比值比2.03，95%置信区间1.05 - 3.93 [P = 0.036]），但在女性队列中不存在。根据IS亚型分析显示，rs662基因变异在大动脉粥样硬化患者亚组中增加风险（CT/CC与TT相比 - 比值比2.31，95%置信区间1.09 - 4.91；P = 0.029），但在其他类型IS患者中不存在。
本研究表明，rs662呈现出IS的潜在风险，尤其是男性，并且这种关联在大动脉粥样硬化中更为明显。
