Gene mapping for primary open angle glaucoma

Fan, Bao Jian; Wang, Dan Yi; Lam, Dennis Shun Chiu; Pang, Chi Pui

doi:10.1016/j.clinbiochem.2005.11.001

Cited by 128 publications

(106 citation statements)

References 80 publications

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“…26,38,39 On the basis of the current data, POAG is a genuinely multifactorial disease, and so far at least 20 genetic loci for POAG have been reported. 40 In contrast to the Caucasians, LOXL1 allele and haplotype distribution is different in the Japanese population. 31 The risk-associated allele in Japan at the locus rs1048661 is T instead of the G, and at the locus rs2165241 is C instead of the T in Caucasians.…”

Section: Discussionmentioning

confidence: 93%

Association of LOXL1 gene with Finnish exfoliation syndrome patients

et al. 2009

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In this study, three single-nucleotide polymorphisms (SNPs) on the lysyl oxidase-like 1 (LOXL1) gene associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) were investigated in the Finnish population. A case-control study of 59 sporadic patients with XFS, 82 with XFG, 71 with primary open-angle glaucoma (POAG) and 26 individuals without these disorders from the southern Finnish population, and a family study of an extended family with 28 patients with XFS or XFG and 92 unaffected relatives from Kö kar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n¼404) were studied as population-based controls. Three SNPs, rs1048661 (R141L), rs3825942 (G153D) and rs2165241, of the LOXL1 gene were genotyped by PCR sequencing. Association and linkage analyses were carried out. In both case-control and family materials, significant association for allele G of rs1048661 (P¼2.65Â10 À5 ; P¼0.0007), allele G of rs3825942 (P¼2.24Â10 À8 ; P¼0.49) and allele T of rs2165241 (P¼2.62Â10 À13 ; Po0.0001) was found in XFS/XFG. However, linkage was not observed for LOXL1 risk alleles. The corresponding three-locus haplotype GGT increased the risk of XFS/ XFG nearly 15-fold relative to low-risk haplotype GAC (odds ratio (OR): 14.9, P¼1.6Â10 À16 ). In conclusion, the earlier reported polymorphisms of the LOXL1 gene showed significant association also in the Finnish population.

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Section: Discussionmentioning

confidence: 93%

Association of LOXL1 gene with Finnish exfoliation syndrome patients

et al. 2009

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“…45 Among them, 14 chromosomal loci have been designated GLC1A to GLC1N by the HUGO Genome Nomenclature Committee (http://www.genenames.org/; 'GLC': glaucoma, '1': primary open angle, 'A to N': chronological order of genes discovered; 5 of them (GLC1A, GLC1J, GLC1K, GLC1M, and GLC1N) contributed to JOAG, whereas the others contributed only to adultonset POAG. Only three genes causing POAG, MYOC, optineurin (OPTN), and WDR36, have been identified in these loci, that is, in GLC1A, GLC1E, and GLC1G, respectively.…”

Section: Genetic Loci and Glaucoma-associated Genesmentioning

confidence: 99%

Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

Gemenetzi

Yang

Lotery

2011

Eye

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“…10 Altogether, mutations in these genes account for o10% of POAG cases. 11 In addition, association studies have implicated at least 20 other genes, 7,12 among them cytochrome P450-1B (CYP1B1) 13 and neurotrophin 4 (NTF4), 14 contributing to the pathogenesis of glaucoma, 7 but these are still insufficient to explain the most significant fraction of POAG cases. 15 This may not come as a surprise, as the POAG phenotype itself seems complex and to result from diverse pathological processes that involve, but are not limited to, the retina and optic nerve, the aqueous humor outflow pathways and even, as suggested recently, the cerebrospinal fluid dynamics.…”

Section: Introductionmentioning

confidence: 99%