ArticleBMC medical genetics2009
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.
Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Pooled it
- Review
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- Neuroprotection in Glaucoma: NADCells · 2021Review
- Functional imaging of mitochondria in retinal diseases using flavoprotein fluorescence.Eye (London, England) · 2021Review
- Review
- Programmed switch in the mitochondrial degradation pathways during human retinal ganglion cell differentiation from stem cells is critical for RGC survival.Redox biology · 2020Article
- Normal-tension glaucoma: Pathogenesis and genetics.Experimental and therapeutic medicine · 2019Review
- The Role of Endogenous Neuroprotective Mechanisms in the Prevention of Retinal Ganglion Cells Degeneration.Frontiers in neuroscience · 2018Review
- The current research status of normal tension glaucoma.Clinical interventions in aging · 2014Review
- Article
- Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.Molecular vision · 2013Article
- Mitochondrial disorders and the eye.Current opinion in ophthalmology · 2011Review
- Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Progress in retinal and eye research · 2011Review
- Mitochondrial disorders and the eye.Eye and brain · 2011Review
- Glaucoma: genes, phenotypes, and new directions for therapy.The Journal of clinical investigation · 2010Review
- VAV2 and VAV3 as candidate disease genes for spontaneous glaucoma in mice and humans.PloS one · 2010Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNormal tension glaucoma is a major subtype of glaucoma, associated with intraocular pressures that are within the statistically normal range of the population. Monogenic forms following classical inheritance patterns are rare in this glaucoma subtype. Instead, multigenic inheritance is proposed for the majority of cases. The present study tested common sequence variants in candidate genes for association with normal tension glaucoma in the German population.
methodsNinety-eight SNPs were selected to tag the common genetic variation in nine genes, namely OPTN (optineurin), RDX (radixin), SNX16 (sorting nexin 16), OPA1 (optic atrophy 1), MFN1 (mitofusin 1), MFN2 (mitofusin 2), PARL (presenilin associated, rhomboid-like), SOD2 (superoxide dismutase 2, mitochondrial) and CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1). These SNPs were genotyped in 285 cases and 282 fully evaluated matched controls. Statistical analyses comprised single polymorphism association as well as haplogroup based association testing.
resultsResults suggested that genetic variation in five of the candidate genes (RDX, SNX16, OPA1, SOD2 and CYP1B1) is unlikely to confer major risk to develop normal tension glaucoma in the German population. In contrast, we observed a trend towards association of single SNPs in OPTN, MFN1, MFN2 and PARL. The SNPs of OPTN, MFN2 and PARL were further analysed by multimarker haplotype-based association testing. We identified a risk haplotype being more frequent in patients and a vice versa situation for the complementary protective haplotype in each of the three genes.
conclusionCommon variants of OPTN, PARL, MFN1 and MFN2 should be analysed in other cohorts to confirm their involvement in normal tension glaucoma.
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