What you carry at this position in your DNA and what research says about it.
Exfoliation Glaucoma Risk: 8/10 evidence, 42 publications.
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Sample genotype (not yours): T/T
Highly Increased Risk of Exfoliation Glaucoma
Carrying two copies of the T allele is strongly associated with the development of exfoliation syndrome and glaucoma. This genetic profile can lead to the accumulation of microscopic fibers in the eye, potentially raising intraocular pressure.
What this genotype means: Highly increased risk of exfoliation syndrome; Elevated risk of secondary open-angle glaucoma; Potential for increased intraocular pressure.
Sample genotype (not yours): C/C
Typical Risk of Exfoliation Glaucoma
Carrying two copies of the C allele is associated with a typical baseline risk of exfoliation syndrome and glaucoma in Western populations. This genotype does not carry the elevated risk linked to the T allele in European cohorts.
What this genotype means: Typical baseline risk of exfoliation syndrome in Western populations; No elevated genetic risk for secondary glaucoma at this locus.
Sample genotype (not yours): T/C
Increased Risk of Exfoliation Glaucoma
Carrying one copy of the T allele moderately increases the likelihood of developing exfoliation syndrome and glaucoma. This intermediate profile is associated with a higher rate of protein fiber accumulation in the eye compared to the baseline.
What this genotype means: Moderately increased risk of exfoliation syndrome; Elevated risk of secondary glaucoma; Potential for protein fiber deposition in the eye.
Gene function and biological role
Gene Function: Lysyl oxidase-like 1 (LOXL1) encodes an enzyme essential for elastic fiber formation and maintenance [1]. It plays a critical role in the extracellular matrix of ocular tissues, particularly in the anterior segment of the eye [2]. Alterations in this gene can lead to the abnormal accumulation of fibrillar deposits [3]. This process is a hallmark of exfoliation syndrome, which can obstruct fluid outflow and elevate intraocular pressure [4].
Variant Impact: This intronic variant rs2165241 is located within the first intron of the LOXL1 gene [1]. It serves as a strong genetic marker for exfoliation syndrome and secondary glaucoma [3]. The variant is in tight linkage disequilibrium with functional coding changes in the same gene [4]. Although it does not directly alter the protein sequence, it strongly predicts the high-risk genetic haplotype [2].
Key Insight: The risk allele for exfoliation glaucoma flips depending on ancestry, with the T allele posing a risk in European populations while the C allele is the risk factor in East Asian populations.
Location: LOXL1. Chromosome 15 · 15q24.1 · 73.9 Mb
Estimated prevalence by population
Global 17.4%; European 24.7%; African 5.4%; East Asian 0.8%; South Asian 10.1%; Americas 18.1%; Ashkenazi 22.8%; Finnish 23.6%; Middle Eastern 35.4%; Amish 28.2%.
Estimated TT genotype frequency.
Global 44.6%; European 50.0%; African 35.8%; East Asian 16.2%; South Asian 43.3%; Americas 48.9%; Ashkenazi 49.9%; Finnish 50.0%; Middle Eastern 48.2%; Amish 49.8%.
Estimated TC genotype frequency.
Global 38.1%; European 25.3%; African 58.8%; East Asian 83.0%; South Asian 46.6%; Americas 33.0%; Ashkenazi 27.3%; Finnish 26.4%; Middle Eastern 16.4%; Amish 22.0%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Organ Systems
Vision & Eye Health
Exfoliation Glaucoma. Evidence: 6/10. Source: PMID 17690259. Highly Increased Risk.
Respiratory Health
Lung Function. Evidence: 8/10. Source: PMID 40374629. Typical.
Neurology & Mental Health
Neurodevelopmental Traits
Brain Volume. Evidence: 5/10. Source: PMID 33875891. Typical.
Cerebral Cortex Area. Evidence: 5/10. Source: PMID 33875891. Typical.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 8/10. Source: PMID 36224396. Typical.
Showing effects for C/C genotype
Exfoliation Glaucoma. Evidence: 6/10. Source: PMID 17690259. Typical Risk.
Lung Function. Evidence: 8/10. Source: PMID 40374629. Slightly Increased.
Brain Volume. Evidence: 5/10. Source: PMID 33875891. Slightly Increased.
Cerebral Cortex Area. Evidence: 5/10. Source: PMID 33875891. Slightly Increased.
Height. Evidence: 8/10. Source: PMID 36224396. Slightly Taller.
Showing effects for T/C genotype
Exfoliation Glaucoma. Evidence: 6/10. Source: PMID 17690259. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Research shows that the T/T genotype is linked to a significantly higher risk of exfoliation glaucoma, particularly in populations of European descent [1]. This condition involves the abnormal deposition of protein fibers on the lens and other structures of the eye [2]. Over time, these deposits can clog the eye's natural drainage system, leading to elevated intraocular pressure and optic nerve damage [3]. Interestingly, the risk association is highly population-dependent, as the T allele is the primary risk factor in Western cohorts but is protective in East Asian groups [4]. Regular eye examinations are often recommended for individuals with this genetic background to monitor intraocular pressure [5].
Highly increased risk of exfoliation syndrome; Elevated risk of secondary open-angle glaucoma; Potential for increased intraocular pressure.
Sample genotype: CC (Homozygous)
Clinical studies show that the C/C genotype represents the baseline or typical risk level for exfoliation glaucoma in individuals of European descent [1]. In these populations, the C allele is considered protective against the abnormal fiber accumulation characteristic of exfoliation syndrome [2]. However, this relationship is reversed in East Asian populations, where the C allele actually serves as the risk-conferring variant [3]. For most Western individuals, this genotype means they do not carry the genetic risk factor associated with this specific locus [4]. Standard eye care and routine checkups remain appropriate to monitor general ocular health over time [5].
Typical baseline risk of exfoliation syndrome in Western populations; No elevated genetic risk for secondary glaucoma at this locus.
Sample genotype: TC (Heterozygous)
Studies indicate that the T/C genotype confers a moderate increase in susceptibility to exfoliation syndrome and secondary glaucoma [1]. The presence of a single T allele is associated with an intermediate risk level compared to non-carriers [2]. This genetic variant is thought to influence the expression of the LOXL1 gene, which is crucial for maintaining the structural integrity of ocular tissues [3]. In European populations, this genotype is frequently observed in individuals who develop fibrillar deposits in the anterior segment of the eye [4]. Because the risk is elevated, routine ophthalmic evaluations can help detect early signs of pressure changes or fiber accumulation [5].
Moderately increased risk of exfoliation syndrome; Elevated risk of secondary glaucoma; Potential for protein fiber deposition in the eye.
Variants with shared genetic architecture
rs1048661 · LOXL1 Gene · Chr 15 · Exfoliation Glaucoma Risk
rs3825942 · LOXL1 Gene · Chr 15 · Exfoliation Glaucoma Risk
rs16958477 · LOXL1-AS1 Gene · Chr 15 · Exfoliation Glaucoma Risk
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort.
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population.
The association of LOXL1 polymorphisms with exfoliation syndrome/glaucoma: Meta-analysis.
LOXL1 Gene Polymorphism With Exfoliation Syndrome/Exfoliation Glaucoma: A Meta-Analysis.
Content updated August 2026.
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