Ma Yi-Nu, Xie Ting-Yu, Chen Xue-Yi
Department of Ophthalmology, The First Affiliated Hospital of Xinjiang Medical University, Urumchi 830011, Xinjiang, China.
J Ophthalmol. 2019 May 2;2019:9687823. doi: 10.1155/2019/9687823. eCollection 2019.
Our previous data suggested that three single-nucleotide polymorphisms (SNPs), rs1048661, rs3825942, and rs2165241, of the lysyl oxidase-like 1 gene () are significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG). The following study investigated other SNPs that potentially effect XFS/XFG.
A total of 216 Uygur patients diagnosed with XFS/XFG, and 297 Uygur volunteers were admitted to the First Affiliated Hospital at Xinjiang Medical University between January 2015 and October 2017. Blood samples were collected by venipuncture. Alleles and genotypes of , , , , , , , , , , and were analyzed by direct sequencing.
The allele G of rs41435250 of was a risk allele for XFS/XFG ( < 0.001), whereas the allele G of rs893818 of was a protective allele for XFS/XFG ( < 0.001). After adjusting all data for age and gender, the following results were obtained: the frequency of genotype CC for rs7137828 of was significantly higher in XFS/XFG patients than in controls ( = 0.027), while no significance was found with reference to the frequency of genotype TT. The frequency of genotype GG for rs893818 of ( < 0.001) and the frequency of genotype AA were both significantly higher in XFS/XFG groups compared to the control group ( < 0.001). In addition, the frequency of genotype TT for rs41435250 of was higher in XFS/XFG patients than in controls ( = 0.003), while no significant difference was found with reference to the frequency of genotype GG after adjusting for age and gender. In addition, the haplotypes G-A/T-G/G-G for rs41435250 and rs893818 were significantly associated with XFS/G.
With reference to , the rs41435250 resulted as a risk factor and rs893818 as a protective factor for XFS/XFG in the Uygur populations. Meanwhile, the rs16958445 of and the rs7137828 of have also shown to be associated with pathogenesis of XFS/XFG.
我们之前的数据表明，赖氨酰氧化酶样1基因（）的三个单核苷酸多态性（SNP），即rs1048661、rs3825942和rs2165241，与剥脱综合征（XFS）和剥脱性青光眼（XFG）显著相关。以下研究调查了其他可能影响XFS/XFG的SNP。
2015年1月至2017年期间，共有216例被诊断为XFS/XFG的维吾尔族患者和297名维吾尔族志愿者入住新疆医科大学第一附属医院。通过静脉穿刺采集血样。采用直接测序法分析、、、、、、、、、和的等位基因和基因型。
的rs41435250的等位基因G是XFS/XFG的风险等位基因（<0.001），而的rs893818的等位基因G是XFS/XFG的保护等位基因（<0.001）。在对年龄和性别进行所有数据调整后，得到以下结果：XFS/XFG患者中rs7137828的基因型CC频率显著高于对照组（=0.027），而基因型TT频率无显著差异。XFS/XFG组中rs893818的基因型GG频率（<0.001）和基因型AA频率均显著高于对照组（<0.001）。此外，XFS/XFG患者中rs41435250的基因型TT频率高于对照组（=0.003），但在对年龄和性别进行调整后，基因型GG频率无显著差异。此外，rs41435250和rs893818的单倍型G-A/T-G/G-G与XFS/G显著相关。
对于，rs41435250是维吾尔族人群中XFS/XFG的危险因素，rs893818是保护因素。同时，的rs16958445和的rs7137828也显示与XFS/XFG的发病机制有关。
