Jiang Lingxi, Zheng Rui, Luo Dongyan, Wang Tingting, Zhai Yaru, Ye Zimeng, Liu Xiaoqi, Gong Bo, Qu Chao, Shi Yi
a Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Clinical Laboratory, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.
b Department of Ophthalmology , Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , Chengdu , China.
Ophthalmic Genet. 2019 Jun;40(3):196-200. doi: 10.1080/13816810.2019.1605388. Epub 2019 May 28.
: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM. : This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71-0.93; P = .016, OR = 0.73, 95%CI = 0.56-0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71-0.94; P = .006, OR = 0.74, 95%CI = 0.59-0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in , were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84). : Our results demonstrated that some heritable variants in the gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify.
以往的全基因组关联研究（GWAS）已揭示法国人群中8p23处的MYP10和10q21.1处的MYP15与高度近视（HM）之间的关联。本研究旨在发现某些单核苷酸多态性（位于MYP10和MYP15）与汉族高度近视之间的联系。 ： 本病例对照关联研究包含1673个样本，包括869名眼科患者和804名对照。从MYP10和MYP15基因座中选择了12个标签单核苷酸多态性（tag SNPs），并通过SNaPshot方法进行基因分型。在12个单核苷酸多态性中，发现基因中的rs4840437和rs6989782与高度近视有显著关联。rs4840437G等位基因和rs4840437GG基因型的携带者患高度近视的风险较低（分别为P = 0.036，OR = 0.81，95%CI = 0.71 - 0.93；P = 0.016，OR = 0.73，95%CI = 0.56 - 0.96）。rs6989782T等位基因和rs6989782TT + CT基因型的携带者患高度近视的风险也降低（分别为P = 0.048，OR = 0.82，95%CI = 0.71 - 0.94；P = 0.006，OR = 0.74，95%CI = 0.59 - 0.92）。其他10个单核苷酸多态性与高度近视无显著关联。此外，由两个单核苷酸多态性产生的风险单倍型AC和保护性单倍型GT与高度近视的关联可能性显著更高（对于AC，P = 0.002，OR = 1.26；对于GT，P = 0.027，OR = 0.84）。 ： 我们的结果表明，该基因中的一些可遗传变异与汉族人群中的高度近视有关。TNKS在遗传性高度近视的发生发展和发病机制中的可能作用仍需进一步研究来确定。
