How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania

Green, Catherine; Kearns, Lisa S.; Wu, Johnny; Barbour, Julie M.; Wilkinson, Robyn M; Ring, Maree A.; Craig, Jamie E; Wong, Tiffany; Hewitt, Alex W.; Mackey, David A.

doi:10.1111/j.1442-9071.2007.01612.x

Cited by 73 publications

(61 citation statements)

References 29 publications

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“…Initially a total of 2062 participants were examined, with definite OAG being diagnosed in 1700 (82.4%) of these participants. 12 Since this original enrolment, an additional 709 people have been reviewed by GIST and diagnosed with OAG.…”

Section: Methodsmentioning

confidence: 99%

“…The GIST has been described in depth previously. [10][11][12] In brief, separate audits of all patients with glaucoma attending all ophthalmic practices in Tasmania, between 1994 and 1996, were performed. Subsequently, surveys inviting patients to participate in the study were directly mailed to over 3800 Tasmanian patients who had been investigated or treated for glaucoma.…”

Section: Methodsmentioning

confidence: 99%

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Mortality in primary open-angle glaucoma: ‘two cupped discs and a funeral’

Hewitt

Sanfilippo

Ring

et al. 2009

Eye

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Purpose The aim of this study was to investigate the causes of mortality in individuals with open-angle glaucoma (OAG). Methods All-cause mortality data from the Registry of Births, Deaths and Marriages for the Australian state of Tasmania, for all people who were at least 40 years of age at the time of death, were classified using International Classification of Diseases-10 guidelines. This information was cross-referenced to identify participants in the Glaucoma Inheritance Study in Tasmania (GIST) who had died. Contingency tables were used for crude analysis and then models were constructed, adjusting for age at death as well as gender. Results Between 1996 and 2005, a total of 33 879 deaths were recorded. Data were unavailable for 4868 (14.4%) people. The mean age at death for the study sample was 78.4 ± 11.5 (range 41-109) years. Of those cases known to have OAG by their participation in GIST (n ¼ 2409), full mortality data were available for 741 (92.0%). Following adjustment for the age at death and male gender, the odds ratio for death due to ischaemic heart disease in people with OAG compared to the general population not known to have OAG was significant (OR ¼ 1.30, 95% CI: 1.08-1.56; P ¼ 0.006). Crude analysis revealed that there were significantly fewer people with OAG who died due to metastatic cancer (Po0.001); however, this did not remain significant following adjustment for age and gender. Conclusion The pathoaetiological relationship between OAG and ischaemic heart disease is unclear and requires further investigation. Increased awareness of the association between cardiovascular disease and OAG is warranted.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Mortality in primary open-angle glaucoma: ‘two cupped discs and a funeral’

Hewitt

Sanfilippo

Ring

et al. 2009

Eye

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“…Advanced OAG cases (N=590 after data cleaning) were selected from the Australian & New Zealand Registry of Advanced Glaucoma (ANZRAG) and the Glaucoma Inheritance Study in Tasmania (GIST) 7,8 . Two previously described Australian samples were used as controls (N=1801 and 2155, total 3956) 9 .…”

mentioning

confidence: 99%

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

et al. 2011

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A genome-wide association study (GWAS) for open angle glaucoma (OAG) blindness was conducted using a discovery cohort of 590 cases with severe visual field loss and 3956 controls. Genome-wide significant associations were identified at TMCO1 (rs4656461 (G) OR=1.68, p=6.1x10 -10 ) and CDKN2B-AS1 (rs4977756 (A) OR = 1.50, p=4.7x10 -9 ). These findings were replicated in a second cohort of advanced OAG cases (rs4656461 p=0.010; rs4977756 p=0.042) and two further cohorts of less severe OAG. The study wide odds ratios are 1.51 (1.35-1.68), p=6.00x10 -14 at TMCO1, and 1.39 (1.28-1.51), p=1.35x10 -14 at CDKN2B-AS1 (also known as CDKN2BAS and ANRIL). Carriers of 1 or more risk alleles at both loci concurrently are at >3-fold increased risk of glaucoma. We demonstrate retinal expression of genes at both loci, and show that CDKN2A and CDKN2B are strongly upregulated in an animal model of glaucoma.Glaucoma is a group of neurodegenerative ocular diseases united by a clinically characteristic optic neuropathy. It is the second leading cause of blindness worldwide 1 . Primary open angle glaucoma (OAG) is the commonest subtype 1 . OAG pathogenesis and factors determining disease progression are poorly understood. Early intervention with measures to reduce intraocular pressure retards visual loss in most individuals 2 , but many cases of glaucoma remain undiagnosed until irreversible vision loss has occurred. Elucidation of SNPs associated with severe outcomes could enable better targeting of treatments which carry cost and morbidity, to individuals at highest risk of blindness. Linkage and candidate gene studies have identified several genes likely to be involved in OAG including myocilin 3 and NTF4 4 , although for the latter, findings have varied in different populations 5 . A recent GWAS using Icelandic OAG cases of unselected severity identified association with variants near CAV1 6 . To identify genes predisposing individuals to OAG blindness, we performed a GWAS in Australian Caucasians with advanced OAG (individuals with OAG who have progressed to severe visual field loss or blindness).

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“…immune mechanisms [3][4][5][6][7] . In this respect, it has been demonstrated that after focal cerebral ischemia or during the course of neurodegenerative diseases or trauma, reactive astrocytes as well as microglia within the CNS generate apoptosis-promoting substances such as TNF-␣ , reactive oxygen intermediates, and nitric oxide, which are implicated as mediators of neuronal cytotoxicity [8,9] .…”

mentioning

confidence: 99%

Association of <i>TNFA</i> –308 G/A and <i>TNFRI</i> +36 A/G Gene Polymorphisms with Glaucoma

Razeghinejad¹,

Rahat²,

Kamali-Sarvestani³

2009

Ophthalmic Res

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Objective: TNF-α is one of the most important factors recognized in the pathogenesis of open-angle glaucoma. Therefore, the association of single nucleotide polymorphisms in the TNFRI gene and the promoter region of the TNFA gene with glaucoma susceptibility was investigated in the present study. Method: In total, 223 patients with glaucoma and 202 unrelated controls were genotyped by allele-specific oligonucleotide PCR and PCR- restriction fragment length polymorphism to determine TNFA –308 G/A and TNFRI +36 A/G polymorphisms, respectively. Results: In contrast to TNFRI polymorphisms, the genotypes of TNFA –308 G/A polymorphisms showed a significant difference between patients and controls (p = 0.0025). Of interest, the distribution of TNFA genotypes was significantly different between patients with primary open-angle glaucoma (p = 0.001) or pseudoexfoliative glaucoma (p = 0.001) and controls, while no difference was found when chronic angle-closure glaucoma patients were compared to controls (p = 0.72). Conclusion: In line with studies showing the role of TNF-α in open-angle glaucoma, the results of the present study showed that inheritance of the high producer TNFA –308 A allele might be a susceptibility factor for the development of open-angle glaucoma.

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How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania

Abstract: Approximately 60% of POAG in Tasmania is familial. This percentage is higher than most previous reports of familial glaucoma and emphasizes the importance of genetics in POAG, with major implications for screening and future research.

Cited by 73 publications

References 29 publications

Mortality in primary open-angle glaucoma: ‘two cupped discs and a funeral’

Mortality in primary open-angle glaucoma: ‘two cupped discs and a funeral’

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

Association of <i>TNFA</i> –308 G/A and <i>TNFRI</i> +36 A/G Gene Polymorphisms with Glaucoma

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