ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

Nongpiur, Monisha E.; Khor, Chiea‐Chuen; Jia, Hongyan; Cornes, Belinda K.; Chen, Lijia; Qiao, Chunyan; Nair, K. Saidas; Cheng, Ching‐Yu; Xu, Liang; George, Ronnie; D, Tan; Abu-Amero, Khaled K.; Perera, Shamira A.; Ozaki, Mineo; Mizoguchi, Takanori; Kurimoto, Yasuo; Low, Sancy; Liza-Sharmini, Ahmad Tajudin; Ho, Ching-Lin; Tham, Clement C.; Soto, Ileana; Chew, Paul; Wong, Hon-Tym; Balekudaru, Shantha; Kuroda, Masako; Osman, Essam; Tang, Guangxian; Fan, Sujie; Meng, Hua; Wang, Hua; Feng, Bo; Yong, Victor H. K.; Ting, Serena M. L.; Yang, Li; Wang, Yaxing; Li, Zheng; Lavanya, Raghavan; Wu, Renyi; Zheng, Yingfeng; Su, Daniel; Loon, Seng-Chee; Allingham, R. Rand; Hauser, Michael A.; Soumittra, Nagaswamy; Ramprasad, Vedam Lakshmi; Waseem, Naushin; Yaakub, Azhany; Chia, Kee‐Seng; Kumaramanickavel, Govindasamy; Wong, Tina; How, Alicia C.; Chau, Tran Nguyen Bich; Simmons, Cameron P.; Bei, Jin‐Xin; Zeng, Yi-Xin; Bhattacharya, Siladitya; Zhang, Mingzhi; Tan, Donald; Teo, Yik-Ying; Al-Obeidan, Saleh A.; Hon, Do Nhu; Tai, E. Shyong; Saw, Seang‐Mei; Foster, Paul J.; Vijaya, Lingam; Jonas, Jost B.; Wong, Tien‐Yin; John, Simon W. M.; Pang, Chi‐Pui; Vithana, Eranga N.; Wang, Ke; Aung, Tin

doi:10.1371/journal.pgen.1004089

Cited by 68 publications

(49 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…48–50 That anterior chamber depth is affected by race and ethnicity as well as age and gender suggests a potential role for genetic influences, which is consistent with a recent report of a genetic variant within the ABCC5 gene that influences anterior chamber depth and the risk of PACG among Asians. 51 The possibility that the risk of certain subtypes of glaucoma could be mediated by the genetic variants linked to refractive errors or the susceptibility to the same warrants further investigation.…”

Section: Discussionmentioning

confidence: 99%

The Association of Refractive Error with Glaucoma in a Multiethnic Population

et al. 2016

View full text Add to dashboard Cite

Purpose To evaluate the association between refractive error and the prevalence of glaucoma by race or ethnicity. Design Cross-sectional study. Participants Kaiser Permanente Northern California Health Plan members with refractive error measured at 35 years of age or older between 2008 and 2014 and with no history of cataract surgery, refractive surgery, or a corneal disorder. Methods We identified 34 040 members with glaucoma or ocular hypertension (OHTN; cases) and 403 398 members without glaucoma (controls). Glaucoma cases were classified as primary angle-closure glaucoma (PACG); 1 of the 4 forms of open-angle glaucoma: primary open-angle glaucoma (POAG), normal-tension glaucoma (NTG), pigmentary glaucoma (PIGM), and pseudoexfoliation glaucoma (PEX); or OHTN. Refractive error, expressed as spherical equivalent (SE), was coded as a continuous trait and also as categories. Logistic regression analyses were used to estimate the association between refractive error and the prevalence of glaucoma overall and in specific racial or ethnic groups. Main Outcome Measures The association between refractive error and glaucoma subtypes evaluated as odds ratios (ORs) with 95% confidence intervals (CIs). Results In controls, the mean SE was −0.59 diopters (D) (standard deviation, 2.62 D). Each 1-D reduction in SE was associated with a 22% decrease in the odds of PACG (OR, 0.78; 95% CI, 0.77–0.80) and with increases in the odds of open-angle glaucoma ranging from 1.23 (95% CI, 1.20–1.26) for PIGM, to 1.07 (95% CI, 1.03–1.11) for PEX, and to 1.05 (95% CI, 1.04–1.06) for OHTN. In addition, we observed a stronger association between myopia and POAG among non-Hispanic whites (OR, 1.12; 95% CI, 1.11–1.13) and NTG among Asians (OR, 1.17; 95% CI, 1.15–1.20) and non-Hispanic whites (OR, 1.19; 95% CI, 1.15–1.22). Conclusions Myopia was associated with an increased prevalence of all forms of open-angle glaucoma and OHTN, whereas hyperopia was associated with a substantially increased prevalence of PACG. Although high myopia is a strong risk factor for glaucoma subtypes, low and moderate myopia also have a significant effect on glaucoma risk. Additionally, there were moderate racial differences in the association of myopia with the risk of POAG and NTG.

show abstract

Section: Discussionmentioning

confidence: 99%

The Association of Refractive Error with Glaucoma in a Multiethnic Population

et al. 2016

View full text Add to dashboard Cite

show abstract

“…In a recent GWA study of ACD and PACG in an Asian cohort, variants in the ATP-binding cassette, sub-family C (CFTR/MRP), and member 5 encoding gene (ABCC5) were found to influence ACD and increase the risk of PACG development. 94 ABCC5 has been shown to participate in tissue defense and cellular signal transduction mechanisms. 95 The findings of this study support the role of ACD-modifying variants in mediating risk to PACG.…”

Section: Nebmentioning

confidence: 99%

The genetic mechanisms of primary angle closure glaucoma

Ahram

Alward

Kuehn

2015

Eye

View full text Add to dashboard Cite

Primary Angle Closure Glaucoma (PACG) is one of the most common types of glaucoma affecting over 15 million individuals worldwide. Family history and ethnicity are strongly associated with the development of the disease, suggesting that one or more genetic factors contribute to PACG. Although strictly heritable disease-causing mutations have not been identified, a number of recent association studies have pointed out genetic factors that appear to contribute to an individual's risk to develop PACG. In addition, genetic factors have been identified that modify PACG endophenotypes for example, axial length. Herein we review the current literature on this important topic.

show abstract

“…Another GWAS confirmed the association at these three loci and found significant association of five additional loci with PACG [13]. Nongpiur et al conducted a two-staged GWAS and found that a genetic variant within ABCC5 gene may increase the risk of having PACG by shaping the anterior chamber depth (ACD) [14]. …”

Section: Introductionmentioning

confidence: 99%

Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development

et al. 2016

View full text Add to dashboard Cite

PurposeThe formation of primary angle closure (PAC) and primary angle closure glaucoma (PACG) is regulated by a tissue remodeling pathway that plays a critical role in eye development. MicroRNAs (miRNAs) are powerful gene expression regulators and may exert their effects on tissue remodeling genes. This study investigated the associations between gene variants (single-nucleotide polymorphism, SNP) in miRNA binding sites in the 3’-UTR region of genes involved in eye development and PAC.MethodsThe sample consisted of 232 PAC subjects and 306 controls obtained from a population-based cohort in the Funing District of Jiangsu, China. The markers include 9 SNPs in the COL11A1, PCMTD1, ZNRF3, MTHFR, and ALPPL2 genes respectively. SNP genotyping was performed with a TaqMan-MGB probe using an RT-PCR system.ResultsOf the 9 SNPs studied, the frequency of the minor A allele of COL11A1 rs1031820 was higher in the PAC group than in the control group in allele analysis (p = 0.047). The genotype analysis indicated that MTHFR rs1537514 is marginally associated with PAC (p = 0.014). The CC genotype of rs1537514 was present solely in the PAC group. However, the differences lost significance after Bonferroni correction.ConclusionOur study reveals a possible association of COL11A1 and MTHFR with PAC in the Han Chinese population. These results will contribute to an improved understanding of the genetic basis of PACG.

show abstract

ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

Cited by 68 publications

References 43 publications

The Association of Refractive Error with Glaucoma in a Multiethnic Population

The Association of Refractive Error with Glaucoma in a Multiethnic Population

The genetic mechanisms of primary angle closure glaucoma

Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development

Contact Info

Product

Resources

About