Dataset Information

An extensive replication study on three new susceptibility Loci of primary angle closure glaucoma in han chinese: jiangsu eye study.

ABSTRACT: Genome-wide association study (GWAS) analysis identified three new susceptibility loci for PACG. In this study, we aimed to investigate whether these three loci in PLEKHA7, COL11A1, and PCMTD1-ST18 are associated with PAC and ocular biometric characteristics, such as axial length (AL), anterior chamber depth (ACD), and diopter of spherical power (DS). The study was a part of the Jiangsu Eye Study. The samples were collected from 232 PAC subjects and 306 controls from a population-based prevalence survey conducted in Funing County of Jiangsu, China. The single nucleotide polymorphisms (SNPs) of rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 in PCMTD1-ST18 were genotyped by TaqMan-MGB probe using the RT-PCR system. None of the three polymorphisms showed differences in the distribution of genotypes and allele frequencies between the PAC group and the control group. No significant association was determined between the 3 SNPs and AL, ACD, or DS of PAC subjects. We concluded that even though PLEKHA7 rs11024102, COL11A1 rs3753841, and PCMTD1-ST18 rs1015213 are associated with PACG, those sequence variations are not associated with PAC in a Han Chinese population. Our results also did not support a significant role for these three SNPs in ocular biometry such as AL, ACD, and DS.

SUBMITTER: Shi H

PROVIDER: S-EPMC3824414 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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An extensive replication study on three new susceptibility Loci of primary angle closure glaucoma in han chinese: jiangsu eye study.

Shi Haihong H Zhu Rongrong R Hu Nan N Shi Jian J Zhang Junfang J Jiang Linjuan L Jiang Hong H Guan Huaijin H

Journal of ophthalmology 20131024

Genome-wide association study (GWAS) analysis identified three new susceptibility loci for PACG. In this study, we aimed to investigate whether these three loci in PLEKHA7, COL11A1, and PCMTD1-ST18 are associated with PAC and ocular biometric characteristics, such as axial length (AL), anterior chamber depth (ACD), and diopter of spherical power (DS). The study was a part of the Jiangsu Eye Study. The samples were collected from 232 PAC subjects and 306 controls from a population-based prevalenc ...[more]

PMID: 24282630

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Project description:PURPOSE: Primary angle closure (PAC) is the early stage of primary angle closure glaucoma (PACG). It is believed that the formation of PAC is regulated by a tissue remodeling pathway. This study investigated the association between gene variants in extracellular matrix metalloprotease-9 (MMP-9), methylenetetrahydrofolate reductase (MTHFR), frizzled-related protein (MFRP), heat shock protein 70 (HSP70), and PAC. METHODS: The study was part of the Jiangsu Eye Study. The sample consisted of 232 subjects with PAC and 306 controls obtained from a population-based prevalence survey conducted in Funing County in Jiangsu Province, China. The single nucleotide polymorphisms (SNPs) included rs17576 and rs3918249 in MMP-9, rs1801133 in MTHFR, rs3814762 in MFRP, and rs1043618 in HSP70. SNP genotyping was performed with a TaqMan MGB probe using the real-time PCR system. RESULTS: Among the five SNPs tested, only MFRP rs3814762 and HSP70 rs1043618 showed a nominal association with PAC. The frequency of the minor T allele of MFRP rs3814762 was higher in the control group than in the PAC group (uncorrected p=0.016 and p=0.027, for alleles and genotypes, respectively) and conferred an odds ratio (OR) of 0.67 in the allelic analysis, indicating a protective role of the SNP in developing PAC. In contrast, the frequency of the CC genotype of HSP70 rs1043618 was higher in the PAC group than in the control group (uncorrected p=0.048 and p=0.022 for the genotypes general model and recessive model, respectively) and conferred an OR of 1.79 in the recessive model, indicating a harmful role in developing PAC. However, the differences did not remain statistically significant after Bonferroni correction. The remaining three SNPs showed no differences in the distribution of the genotypes and allele frequencies between the two groups. CONCLUSIONS: Our study reveals a suggestive association of MFRP and HSP70 with PAC in a Han Chinese population. The results from this population-based survey will serve as the baseline for prospective observation of the role of tissue remodeling pathway in the development of PACG.

Project description:IntroductionPrimary angle-closure glaucoma (PACG) is a leading cause of irreversible blindness globally, and the number of patients with PACG rises every year. Yet, there is a lack of knowledge about the clinical characteristics, therapeutic options and profile of patients with PACG in China. Hence, we design the China Glaucoma Treatment Pattern Study Ⅰ-Primary Angle-Closure Glaucoma (Ch-GTPⅠ). The objective of this paper is to describe the design and methodology of Ch-GTP. The aim of this study is to characterise the profile and trend associated with initial PACG treatment for the last 10 years in China.MethodsCh-GTPⅠ is a national multicentre retrospective observational study that will randomly sample from 50 hospitals throughout China. Over 7000 patient records hospitalised for initial PACG treatment from 2011 to 2020 will be selected randomly. The data from electronic medical records will be uploaded to an encrypted online platform that will receive and collate data from all collaborating hospitals. Data abstraction and monitoring will be performed in a standardised manner by trained statisticians to ensure consistency. Systematic data cleaning will also be conducted by statisticians to ensure data integrity before final data storage. The outcomes will include four broad categories: (1) demographics, (2) clinical characteristics, (3) therapeutic strategies and procedures and (4) early outcomes at discharge. The demographic characteristics and early outcomes will be summarised using descriptive statistics. Comparative analyses of characteristics and treatment pattern changing trends for different regions and years will be used to test for significant differences (t-test or Mann-Whitney U test).Ethics and disseminationThe collaborating hospitals obtained local approval based on a standard ethics application from internal ethics committees or acknowledged an existent ethics approval of the leading institution with approval from internal ethics committees. Due to the retrospective nature, written informed consent from patients was waived by the ethics committee. The results will be published in academic journals and presented at national and international academic conferences.Trial registration numberChiCTR2100054643.

Dataset Information

An extensive replication study on three new susceptibility Loci of primary angle closure glaucoma in han chinese: jiangsu eye study.

Publications

An extensive replication study on three new susceptibility Loci of primary angle closure glaucoma in han chinese: jiangsu eye study.

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