|(C;T)||2.2||4.4x increased risk of exfoliation glaucoma|
|(T;T)||2.3||>10x increased risk of exfoliation glaucoma|
More specifically, the risk allele rs2165241(T) was found to be associated with glaucoma only because it effectively predicted (with 90% probability) the actual high-risk haplotype consisting of rs1048661(G) and rs3825942(C), as oriented with respect to their entries in dbSNP. [PMID 17690259]
However, a meta-analysis published in 2010 concluded that it's likely that SNPs rs1048661 and rs2165241 are not directly implicated in the pathogenesis of glaucoma; only the nearby rs3825942 seemed to be the disease-associated SNP.[PMID 20142848]
[PMID 18287813] rs2165241 was significantly associated with XFG and XFS (p=4.13x10e-9 for an additive model, heterozygote odds ratio = 4.42 (CI: 2.3-8.5), homozygote odds ratio = 34.19 (CI: 4.48-261), with the rs2165241 (T) allele being the risk allele, found in 83.1% of cases versus 52.4% in controls, based on a study of 62 Caucasian patients. Significant association was also found for rs3825942 (p=1.89x10e-6).
[PMID 18385788] rs1048661 (G), rs3825942 (G), and rs2165241 (T) are highly associated with XFS and XFG in American and European populations. The GGT haplotype constitutes a major risk haplotype for exfoliation.
[PMID 18385063] Confirmed as risk for pseudoexfoliation (PEX) and pseudoexfoliation glaucoma (PEXG) in populations of German and Italian descent.
|On GW 5.0||0|
|Odds Ratio Het|
|Odds Ratio Hom|
|Odds Ratio All||1.96|
rs2165241 increases susceptibility to Exfoliation glaucoma 3.62 times for carriers of the T allele [PMID 17690259]
rs2165241 increases susceptibility to Glaucoma 1.96 times for carriers of the T allele [PMID 17690259]
rs2165241 increases susceptibility to Primary open-angle glaucoma 1.04 times for carriers of the T allele [PMID 17690259][PMID 19936304] Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
[PMID 20051886] Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma[PMID 21510775] Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population
[PMID 21970694] Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population
[PMID 22194657] Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion
[PMID 22765198] TT polymorphism in rs2165241 and rs1048661 region in lysyl oxidase like-1 gene may have a role in stress urinary incontinence physiopathology
[PMID 18223248] The LOXL1 gene variations are not associated with primary open-angle and primary angle-closure glaucomas.
[PMID 18254956] DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
[PMID 18334928] Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.
[PMID 18334947] Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India.
[PMID 18421074] Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations.
[PMID 18450598] Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese.
[PMID 18618003] Exfoliation syndrome and exfoliation glaucoma-associated LOXL1 variations are not involved in pigment dispersion syndrome and pigmentary glaucoma.
[PMID 18648524] Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese.
[PMID 18958304] LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract.
[PMID 19098994] Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese.
[PMID 19112534] Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.
[PMID 19343041] Association of LOXL1 gene with Finnish exfoliation syndrome patients.
[PMID 19503743] Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese.
[PMID 19801603] Rapid inexpensive genome-wide association using pooled whole blood.
[PMID 20431720] Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population.
[PMID 20661439] Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
[PMID 21150032] Complex genetic mechanisms in glaucoma: an overview.
[PMID 21559813] No association of LOXL1 gene polymorphisms with Alzheimer's disease.
[PMID 23441117] Evaluation of lysyl oxidase-like 1 gene polymorphisms in pseudoexfoliation syndrome in a Korean population
[PMID 23869164] Association of lysyl oxidase-like 1 gene common sequence variants in Greek patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma
[PMID 24068861] The T allele of lysyl oxidase-like 1 rs41435250 is a novel risk factor for pseudoexfoliation syndrome and pseudoexfoliation glaucoma independently and through intragenic epistatic interaction
[PMID 24603551] Association between Polymorphisms in Lysyl Oxidase-Like 1 and Susceptibility to Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
[PMID 24892565] Association of lysyl oxidase-like 1 gene polymorphisms in pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a Spanish population
[PMID 24893574] Genetic polymorphism related to exfoliative glaucoma is also associated with primary open-angle glaucoma risk
[PMID 24967207] Lack of association between lysyl oxidase-like 1 polymorphisms and primary open angle glaucoma: a meta-analysis
[PMID 25304275] LOXL1 Gene Polymorphism With Exfoliation Syndrome/Exfoliation Glaucoma: A Meta-Analysis
[PMID 25709925] The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis