Rs2165241

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]

[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.

Rs2165241
PubMed	[PMID 17690259]
Affy Probeset	SNP_A-8476188
Affy Orientation	reverse
On GW 5.0	0
Alleles A/B	A/G
Ancestral	C
Population	EU(Scand.)
Allele	T
Case Freq.
Control Freq.
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All	1.96
Disease	Glaucoma (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]

[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