Jiang Lingxi, Huang Guo, Dai Chao, Zheng Rui, Xie Chunbao, Duan Suyang, Zhong Ling, Liu Xiaoqi, Gong Bo, Yao Dezhong, Yang Zhenglin, Shi Yi
Health Management Center, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Ophthalmic Genet. 2022 Apr;43(2):184-190. doi: 10.1080/13816810.2021.1998550. Epub 2021 Dec 5.
To investigate the associations of 11 genetic single nucleotide polymorphisms (SNPs) in FRAP1 and PDGFRA with high myopia (HM) in a Han Chinese population.
A total of 442 HM patients and 947 healthy controls were recruited for this study. Five genetic models were analysed to further evaluate the association of target SNPs with HM. SNP functional annotation database tools were used to predict and analyse the potential function of these SNPs.
Our findings indicated that rs2114039 located in PDGFRA had significant association with HM in a Han Chinese population ( = 2.00E-06, OR = 0.647, 95%CI = 0.542-0.773). The common genotypes rs2114039CC, rs2114039CT and rs2114039CT+TT all had a decreased risk of HM when compared with rs2114039TT ( = 4.10E-05, OR = 0.290, 95%CI = 0.161-0.524; = 1.00E-03, OR = 0.626, 95%CI = 0.479-0.819; = 9.00E-06, OR = 0.560, 95%CI = 0.433-0.724, respectively). In addition, compared with rs2114039CT+TT, rs2114039CC also had a decreased risk of HM ( = 3.59E-04, OR = 0.347, 95% CI = 0.194-0.620).
Our findings indicated that rs2114039, located in PDGFRA, was significantly associated with HM in the southwest Han Chinese population. Additionally, rs2114039 might influence the function of PDGFRA by regulating the growth of human vision through different pathways. Furthermore, functional research on the role of PDGFRA in myopia pathogenesis should be conducted in the future.
探讨FRAP1和PDGFRA基因中的11个单核苷酸多态性（SNP）与汉族人群高度近视（HM）的相关性。
本研究共纳入442例HM患者和947例健康对照。分析了五种遗传模型，以进一步评估目标SNP与HM的相关性。使用SNP功能注释数据库工具预测和分析这些SNP的潜在功能。
我们的研究结果表明，位于PDGFRA基因中的rs2114039与汉族人群的HM显著相关（P = 2.00E - 06，OR = 0.647，95%CI = 0.542 - 0.773）。与rs2114039TT相比，常见基因型rs2114039CC、rs2114039CT和rs2114039CT + TT的HM风险均降低（P分别为4.10E - 05，OR = 0.290，95%CI = 0.161 - 0.524；P = 1.00E - 03，OR = 0.626，95%CI = 0.479 - 0.819；P = 9.00E - 06，OR = 0.560，95%CI = 0.433 - 0.724）。此外，与rs2114039CT + TT相比，rs2114039CC的HM风险也降低（P = 3.59E - 04，OR = 0.347，95%CI = 0.194 - 0.620）。
我们的研究结果表明，位于PDGFRA基因中的rs2114039与西南汉族人群的HM显著相关。此外，rs2114039可能通过不同途径调节人类视力发育来影响PDGFRA的功能。此外，未来应开展关于PDGFRA在近视发病机制中作用的功能研究。
