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首页> 外文期刊>Investigative ophthalmology & visual science >Genotype analysis of three SNPs in SIX6 associated with primary open angle glaucoma in Chinese population
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Genotype analysis of three SNPs in SIX6 associated with primary open angle glaucoma in Chinese population

机译：中国人群原发性开角型青光眼相关的SIX6中3个SNP的基因型分析

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Purpose : Three single nucleotide polymorphisms (SNPs) rs10483727,rs33912345 and rs146737847 in SIX6 or in SIX1-6 locus have recently implicated with primary open angle glaucoma. We investigated the genetic association of these three SNPs with primary open angle glaucoma in Chinese population. Methods : This study collected 866 primary open angle glaucoma patients and 266 individuals of control group from Beijing Tongren hospital, including 685 high-pressure glaucoma(HTG) and 181 normal tension glaucoma(NTG). Written informed consents were obtained from patients and normal subjects. DNA extraction was all from peripheral blood. Genotyping for all three SNPs was performed by using MALDI-TOF MS. Results : In our study, genetic association was significantly identified for rs10483727 in HTG group (P=0.02), in NTG group(P0.001) and in POAG (combined HTG and NTG patients) group(P=0.001). rs33912345 was also found significantly association in HTG group(P=0.008), in NTG group(P0.001) and in POAG (combined HTG and NTG patients) group(P=0.001). rs146737847 is a rare mutation in SIX6, but none of our POAG patients found this mutation. Conclusions : rs10483727 and rs33912345 are significantly related to POAG and two subtypes of POAG respectively. In this study, the rare mutation of SIX6 (rs146737847) have not been found both in POAG and control groups. Further work should be investigated the association between genotype and clinical phenotype in POAG and the SIX6 gene function in the pathogenesis of POAG. This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
机译：目的：SIX6或SIX1-6基因座中的三个单核苷酸多态性（SNP）rs10483727，rs33912345和rs146737847最近与原发性开角型青光眼有关。我们调查了这三个SNPs与中国人原发性开角型青光眼的遗传关联。方法：本研究收集了北京同仁医院收治的866例原发性开角型青光眼患者和266例对照组，其中包括685例高压青光眼（HTG）和181例正常张力性青光眼（NTG）。从患者和正常受试者获得书面知情同意书。 DNA提取全部来自外周血。使用MALDI-TOF MS对所有三个SNP进行基因分型。结果：在我们的研究中，在HTG组（P = 0.02），NTG组（P <0.001）和POAG（HTG和NTG合并患者）组（P = 0.001）中rs10483727有明显的遗传关联。 rs33912345在HTG组（P = 0.008），NTG组（P <0.001）和POAG（HTG和NTG合并患者）组也有显着关联（P = 0.001）。 rs146737847是SIX6中的罕见突变，但我们的POAG患者均未发现此突变。结论：rs10483727和rs33912345分别与POAG和POAG的两个亚型密切相关。在这项研究中，在POAG和对照组中均未发现SIX6的罕见突变（rs146737847）。应该进一步研究POAG的基因型和临床表型与SIX6基因在POAG发病机理中的功能之间的关系。这是提交给2016年5月1-5日在华盛顿州西雅图市举行的2016 ARVO年会的摘要。

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