{{Rsnum
|rsid=2165241
|Gene=LOXL1
|Chromosome=15
|position=73929861
|Orientation=plus
|GMAF=0.3136
|Gene_s=LOXL1,RNASEH2B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 34.5 | 43.4 | 22.1
| HCB | 83.9 | 15.3 | 0.7
| JPT | 73.5 | 23.9 | 2.7
| YRI | 59.2 | 36.7 | 4.1
| ASW | 61.4 | 29.8 | 8.8
| CHB | 83.9 | 15.3 | 0.7
| CHD | 84.4 | 15.6 | 0.0
| GIH | 39.6 | 45.5 | 14.9
| LWK | 68.2 | 30.0 | 1.8
| MEX | 31.0 | 53.4 | 15.5
| MKK | 56.4 | 39.1 | 4.5
| TSI | 25.5 | 53.9 | 20.6
| HapMapRevision=28
}}This SNP, located in an intron of the [[LOXL1]] gene, was initially reported to be associated with exfoliation [[glaucoma]]. However, it was shown in the same study to no longer be significant once two other SNPs, which cause actual changes in the [[LOXL1]] protein, were identified. 

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|OA=1
}} 

{{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|OA=1
}} [[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.

{{Report GE
|PubMed=17690259
|Source=journal
|AffyProbeset=SNP_A-8476188
|AffyOrientation=reverse
|AlleleA=A
|AlleleB=G
|onGW5=0
|rsid=2165241
|ancestral=C
|RiskPopulation=EU(Scand.)
|RiskAllele=T
|CaseFreq=
|ControlFreq=
|OddsRatioHet=
|OddsRatioHom=
|OddsRatioAll=1.96
|Disease=Glaucoma
|DiseaseSymbol=GC
}}

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}}

{{omim
|id=153456
|desc=LYSYL OXIDASE-LIKE 1; LOXL1
|rsnum=2165241
}}

{{PMID Auto
|PMID=19936304
|Title=Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population
|OA=1
}}
{{PMID Auto
|PMID=20051886
|Title=Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma
}}

{{omim
|id=153456
|rsnum=2165241
|variant=0003
}}

{{omim
|id=177650
|rsnum=2165241
}}

{{PMID Auto
|PMID=21510775
|Title=Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population
|OA=1
}}

{{PMID Auto
|PMID=21970694
|Title=Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population
}}

{{PMID Auto
|PMID=22194657
|Title=Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion
|OA=1
}}

{{PMID Auto
|PMID=22765198
|Title=TT polymorphism in rs2165241 and rs1048661 region in lysyl oxidase like-1 gene may have a role in stress urinary incontinence physiopathology
}}

{{PMID Auto
|PMID=18223248
|Title=The LOXL1 gene variations are not associated with primary open-angle and primary angle-closure glaucomas.
}}

{{PMID Auto
|PMID=18254956
|Title=DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
|OA=1
}}

{{PMID Auto
|PMID=18334928
|Title=Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.
|OA=1
}}

{{PMID Auto
|PMID=18334947
|Title=Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India.
|OA=1
}}

{{PMID Auto
|PMID=18421074
|Title=Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations.
|OA=1
}}

{{PMID Auto
|PMID=18450598
|Title=Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese.
}}

{{PMID Auto
|PMID=18618003
|Title=Exfoliation syndrome and exfoliation glaucoma-associated LOXL1 variations are not involved in pigment dispersion syndrome and pigmentary glaucoma.
|OA=1
}}

{{PMID Auto
|PMID=18648524
|Title=Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese.
|OA=1
}}

{{PMID Auto
|PMID=18958304
|Title=LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract.
|OA=1
}}

{{PMID Auto
|PMID=19098994
|Title=Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese.
|OA=1
}}

{{PMID Auto
|PMID=19112534
|Title=Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.
|OA=1
}}

{{PMID Auto
|PMID=19343041
|Title=Association of LOXL1 gene with Finnish exfoliation syndrome patients.
}}

{{PMID Auto
|PMID=19503743
|Title=Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese.
|OA=1
}}

{{PMID Auto
|PMID=19801603
|Title=Rapid inexpensive genome-wide association using pooled whole blood.
|OA=1
}}

{{PMID Auto
|PMID=20431720
|Title=Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population.
|OA=1
}}

{{PMID Auto
|PMID=20661439
|Title=Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
|OA=1
}}

{{PMID Auto
|PMID=21150032
|Title=Complex genetic mechanisms in glaucoma: an overview.
|OA=1
}}

{{PMID Auto
|PMID=21559813
|Title=No association of LOXL1 gene polymorphisms with Alzheimer's disease.
}}

{{PMID Auto
|PMID=23441117
|Title=Evaluation of lysyl oxidase-like 1 gene polymorphisms in pseudoexfoliation syndrome in a Korean population
|OA=1
}}

{{PMID Auto
|PMID=23869164
|Title=Association of lysyl oxidase-like 1 gene common sequence variants in Greek patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma
|OA=1
}}

{{PMID Auto
|PMID=24068861
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=24603551
|Title=Association between Polymorphisms in Lysyl Oxidase-Like 1 and Susceptibility to Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
|OA=1
}}

{{PMID Auto
|PMID=24892565
|Title=Association of lysyl oxidase-like 1 gene polymorphisms in pseudoexfoliation syndrome and pseudoexfoliation glaucoma in a Spanish population
}}

{{PMID Auto
|PMID=24893574
|Title=Genetic polymorphism related to exfoliative glaucoma is also associated with primary open-angle glaucoma risk
}}

{{PMID Auto
|PMID=24967207
|Title=Lack of association between lysyl oxidase-like 1 polymorphisms and primary open angle glaucoma: a meta-analysis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}