Publications by authors named "Shi Yao Lu"
Purpose: To evaluate the genetic associations of different subtypes of central serous chorioretinopathy (CSCR), neovascular age-related macular degeneration (nAMD), and polypoidal choroidal vasculopathy (PCV).
Design: A case-control genetic association study.
Methods: This study enrolled 217 CSCR, 341 nAMD, 288 PCV patients, and 1380 controls.
Purpose: Central serous chorioretinopathy (CSCR) is a leading cause of central vision impairment in the working-age population with male predilection. Knowledge about the genetic basis of CSCR and its male predilection remained limited. This study aimed to evaluate the association patterns of multiple gene variants in chronic CSCR (cCSCR) in Chinese patients.
View Article and Find Full Text PDFBackground: To determine the association of the ANGPT2 gene with primary open-angle glaucoma (POAG) in Chinese.
Methods: Six single-nucleotide polymorphisms (SNPs) in ANGPT2 (rs2515487, rs2922869, rs13255574, rs4455855, rs13269021, and rs11775442) were genotyped in a total of 2601 study subjects from two cohorts. One is a Hong Kong Chinese cohort of 484 high tension glaucoma (HTG) and 537 normal tension glaucoma (NTG) patients, and 496 non-glaucoma control subjects.
Myopia is the most common eye condition leading to visual impairment and is greatly influenced by genetics. Over the last two decades, more than 400 associated gene loci have been mapped for myopia and refractive errors via family linkage analyses, candidate gene studies, genome-wide association studies (GWAS), and next-generation sequencing (NGS). Lifestyle factors, such as excessive near work and short outdoor time, are the primary external factors affecting myopia onset and progression.
View Article and Find Full Text PDFPurpose: Association of variants with peripapillary retinal nerve fibre layer (p-RNFL) thickness had been reported in adults. This study aimed to investigate these associations in children, with further explorations by spatial, age and sex stratifications.
Methods: 2878 school children aged between 6 and 9 years were enrolled from the Hong Kong Children Eye Study.
Aims: To identify single-nucleotide polymorphisms (SNPs) associated with central serous chorioretinopathy (CSCR) by a systematic review and meta-analysis, and to compare the association profiles between CSCR, neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV).
Methods: We searched the EMBASE, PubMed and Web of Science for genetic studies of CSCR from the starting dates of the databases to 12 September 2020. We then performed meta-analyses on all SNPs reported by more than two studies and calculated the pooled OR and 95% CIs.
Aims: To assess the association of single-nucleotide polymorphisms (SNPs) with myopia progression for polygenic risk prediction in children.
Methods: Six SNPs ( rs4373767, rs13382811, rs7744813, rs2073560, rs7839488 and rs524952) were analysed in 1043 school children, who completed 3-year follow-up, using TaqMan genotyping assays. SNP associations with progression in spherical equivalent (SE) were analysed by logistic regression.
Genetic associations of myopia severities and endophenotypes in children.
Br J Ophthalmol
August 2021
Objective: To investigate the associations of multiple single-nucleotide polymorphisms (SNPs) with the severities and endophenotypes of myopia in children.
Methods: A total of 3300 children aged 5-10 years were recruited: 137 moderate and high myopia (SE≤-3.0D), 670 mild myopia (-3.
Association of WNT7B and RSPO1 with Axial Length in School Children.
Invest Ophthalmol Vis Sci
August 2020
Purpose: To evaluate the association between single-nucleotide polymorphisms (SNPs) in the ZC3H11B, RSPO1, C3orf26, GJD2, ZNRF3, and WNT7B genes and myopia endophenotypes in children.
Methods: Seven SNPs identified in previous genome-wide association studies of axial length (AL) were genotyped in 2883 Southern Han Chinese children. Multiple linear regression analyses were conducted to evaluate the genotype association with AL, spherical equivalent (SE), corneal curvature (CC), and central corneal thickness (CCT).
Article Synopsis
- The study investigated the association of the CAV1-CAV2 genetic locus with normal-tension glaucoma (NTG) in Chinese and Japanese populations, finding strong evidence for one SNP, rs4236601, in Chinese cohorts but not in the Japanese cohort.
- Researchers genotyped two SNPs (rs4236601 and rs1052990) among 2220 participants, observing significant effects of rs4236601 in Chinese NTG patients, while rs1052990 showed no significant association when analyzing both ethnic groups together.
- The findings noted a gender difference, as rs4236601 was significantly linked to NTG in males but not in females among Chinese subjects, highlighting the need for further investigation into ethnic and gender
Objective: To investigate the associations of single-nucleotide polymorphisms (SNPs) in the , and genes with severities of myopia in Chinese populations.
Methods: Based on previous myopia genome-wide association studies, five SNPs ( rs4373767, rs13382811, rs2730260, rs7839488 and rs9318086) were selected for genotyping in a Chinese cohort of 2079 subjects: 252 extreme myopia, 277 high myopia, 393 moderate myopia, 366 mild myopia and 791 non-myopic controls. Genotyping was performed by TaqMan assays.
Association of Polymorphisms at the SIX1-SIX6 Locus With Primary Open-Angle Glaucoma.
Invest Ophthalmol Vis Sci
July 2019
Purpose: To evaluate the association of single-nucleotide polymorphisms (SNPs) in the SIX1-SIX6 locus with primary open-angle glaucoma (POAG) through a systematic review and meta-analysis from 22 studies.
Methods: To our knowledge, all case-control association studies on SNPs in the SIX1-SIX6 locus and POAG reported up to August 30, 2018, in PubMed, Embase, and Web of Science were retrieved. Unadjusted and adjusted odds ratios (ORs) and 95% confidence intervals (95% CIs) for each SNP were calculated using a fixed- or random-effect model according to interstudy heterogeneity.
Article Synopsis
- The study aimed to assess the link between the SIX6 genetic region and primary open-angle glaucoma (POAG) in southern Chinese and Japanese populations, involving three cohorts: Hong Kong Chinese, Shantou Chinese, and Osaka Japanese.
- Researchers tested 11 single nucleotide polymorphisms (SNPs) and identified a new SNP (rs12436579) associated with POAG specifically in Chinese cohorts, along with confirming known associations with other SNPs (rs33912345 and rs10483727).
- The findings suggest significant associations of these SNPs with POAG in the combined Chinese groups, while haplotype analysis revealed specific genetic combinations linked to POAG, highlighting the need for further research on the novel SNP's role
Objective: To investigate the associations between 16 single-nucleotide polymorphisms (SNPs) in 14 genetic loci and keratoconus in an independent Chinese cohort.
Methods: This cross-sectional, case-control association study included a Chinese cohort of 133 patients with keratoconus and 371 control subjects. In a recent meta-analysis study, we identified association of 16 SNPs in 14 gene loci with keratoconus.
Aims: To investigate the association of the () with different severities of myopia.
Methods: A total of four haplotype-tagging single-nucleotide polymorphisms (SNPs; rs2071754, rs3026354, rs3026390 and rs628224) and two previously reported SNPs (rs644242 and rs662702) in the gene were analysed in a Hong Kong Chinese cohort of 1288 myopia subjects (including 252 extreme myopia, 277 high myopia, 393 moderate myopia and 366 mild myopia) and 791 no myopia controls. Allelic association analyses were performed for individual SNPs in different subgroups of myopia and in combined myopia, followed by a meta-analysis of our current data with reported data on in myopia.