Lack of Association of rs1192415 in TGFBR3-CDC7 With Visual Field Progression: A Cohort Study in Chinese Open Angle Glaucoma Patients.
Lack of Association of rs1192415 in TGFBR3-CDC7 With Visual Field Progression: A Cohort Study in Chinese Open Angle Glaucoma Patients.
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TGFBR3-CDC7 中 rs1192415 与视野进展缺乏关联：中国开角型青光眼患者的队列研究。
DOI：
10.3389/fgene.2018.00488
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发表时间：
2018
影响因子：
3.7
通讯作者：
Sun X
中科院分区：
文献类型：
--
作者：
Chen Y;Qiu C;Qian S;Chen J;Chen X;Wang L;Sun X
在汉族人群中研究已知候选基因与原发性开角型青光眼（POAG）视野（VF）进展的关联。本研究纳入了440例POAG患者。对五个不同基因区域（TGFBR3 - CDC7、TMCO1、CDKN2B - AS1、ATOH7和SIX1/SIX6）的14个先前报道的单核苷酸多态性（SNPs）进行了基因分型。在基线时记录诊断年龄、性别、眼压（IOP）、视野平均缺损（MD）、垂直杯盘比（VCDR）、最佳矫正视力（BCVA）、中央角膜厚度（CCT）和眼轴长度（AL）。对患者随访5年以评估视野随时间的进展情况。通过多变量逻辑回归比较5年内视野进展和未进展患者的临床信息和14个SNPs的等位基因频率。通过Cox回归进行生存分析以评估相关SNP的作用。基线时较大的MD（P < 0.0001）、增加的VCDR（P = 0.0001）、较高的IOP（P = 0.0003）、较差的BCVA（P = 0.002）以及年龄较大（P = 0.030）与视野进展相关。多变量逻辑回归和Cox回归生存分析均显示，在根据诊断年龄、性别、基线MD、随访IOP、CCT和AL进行调整后，14个SNPs中没有一个与视野进展有统计学关联。在汉族POAG患者中，TGFBR3 - CDC7、TMCO1、ATOH7、CDKN2B - AS1、SIX1/SIX6位点的SNPs与视野进展缺乏关联。需要进一步的研究来评估基因变异与视野进展的关联。
To investigate the association of known candidate genes with the visual field (VF) progression of primary open angle glaucoma (POAG) in a Han Chinese population. We included 440 POAG patients in this study. Fourteen previously reported single nucleotide polymorphisms (SNPs) at five different gene regions (TGFBR3-CDC7, TMCO1, CDKN2B-AS1, ATOH7, and SIX1/SIX6) were genotyped. Age at diagnosis, gender, intraocular pressure (IOP), mean defect (MD) of VF, vertical cup disk ratio (VCDR), best corrected visual acuity (BCVA), central corneal thickness (CCT), and axial length (AL) were recorded at baseline. Patients were followed up for 5 years to evaluate VF progression over time. Clinical information and allele frequencies of 14 SNPs were compared between patients who progressed and who did not within 5 years by multivariate logistic regression. Survival analysis was performed to evaluate the contribution of the associated SNP by cox regression. Greater MD (P < 0.0001), increased VCDR (P = 0.0001), higher IOP (P = 0.0003), worse BCVA (P = 0.002), and older age (P = 0.030) at the baseline were associated with VF progression. Both multivariate logistic regression and cox regression survival analysis showed none of the 14 SNPs statistically associated with VF progression adjusted with age at diagnosis, gender, baseline MD, follow-up IOP, CCT, and AL. There were lack of association of SNPs at TGFBR3-CDC7, TMCO1, ATOH7, CDKN2B-AS1, SIX1/SIX6 loci with VF progression in POAG patients in Han Chinese. Further studies are needed to evaluate the association of genetic variants with VF progression.
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