What you carry at this position in your DNA and what research says about it.
Exfoliation Glaucoma Risk: 8/10 evidence, 49 publications.
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Sample genotype (not yours): G/G
Higher Risk of Exfoliation Glaucoma
Carrying two copies of the G allele is associated with a significantly increased risk of developing exfoliation syndrome and exfoliation glaucoma. This common genetic variant is highly prevalent in most populations but is particularly linked to age-related eye conditions.
What this genotype means: Significantly increased risk of exfoliation syndrome; Higher risk of exfoliation glaucoma; Potential accumulation of abnormal ocular deposits.
Sample genotype (not yours): A/A
Greatly Reduced Risk of Exfoliation Glaucoma
Carrying two copies of the protective A allele is associated with a 10-fold to 27-fold lower risk of developing exfoliation syndrome and exfoliation glaucoma. This genotype offers the strongest genetic protection against these age-related eye conditions.
What this genotype means: Greatly reduced risk of exfoliation syndrome; Very low risk of exfoliation glaucoma; Highly stable LOXL1 protein structure.
Sample genotype (not yours): G/A
Lower Risk of Exfoliation Glaucoma
Carrying one copy of the protective A allele is associated with a reduced risk of developing exfoliation syndrome and exfoliation glaucoma. This genotype provides a protective effect compared to the common risk genotype.
What this genotype means: Reduced risk of exfoliation syndrome; Lower risk of exfoliation glaucoma; Decreased likelihood of ocular fibrillar deposits.
Gene function and biological role
Gene Function: The LOXL1 gene encodes lysyl oxidase-like 1, an enzyme essential for the biogenesis and maintenance of elastic fibers in connective tissues [1]. It plays a critical role in the extracellular matrix, particularly in ocular tissues, the cardiovascular system, and the pelvic floor [2]. Abnormal expression or function of this enzyme can lead to the systemic accumulation of abnormal fibrillar material [3]. This process is the hallmark of exfoliation syndrome, which frequently leads to secondary open-angle glaucoma [3] [4]. While highly studied in the eye, LOXL1 is also expressed in other tissues where elastic fiber homeostasis is required [2].
Variant Impact: The rs3825942 variant is a missense mutation in exon 1 of the LOXL1 gene that causes an amino acid substitution from glycine to aspartic acid at position 153 (p.Gly153Asp) [1]. This structural change occurs in a highly disordered region of the protein's N-terminus, which is prone to misfolding [3]. The G allele represents the ancestral version of the gene and is highly prevalent globally, yet it acts as the primary risk factor for exfoliation syndrome [1] [4]. Conversely, the A allele alters the protein structure in a way that protects against the accumulation of abnormal deposits in the eye [4] [5]. This variant is one of the most strongly associated genetic risk factors for secondary glaucoma identified to date [1].
Key Insight: Although the G allele is a major risk factor for glaucoma, it is actually the most common version of the gene in almost all populations, meaning environmental factors and age play a massive role in whether the disease actually develops.
Location: LOXL1. Chromosome 15 · 15q24.1 · 73.9 Mb
Origin Story: The risk-associated G allele is the ancestral version of the LOXL1 gene, conserved across many species, suggesting that the protective A allele is a relatively recent evolutionary adaptation in humans.
Estimated prevalence by population
Global 61.6%; European 70.5%; African 38.5%; East Asian 77.0%; South Asian 58.6%; Americas 71.8%; Ashkenazi 68.2%; Finnish 70.0%; Middle Eastern 72.7%; Amish 62.6%.
Estimated GG genotype frequency.
Global 32.6%; European 26.9%; African 47.1%; East Asian 21.5%; South Asian 35.9%; Americas 25.9%; Ashkenazi 28.7%; Finnish 27.3%; Middle Eastern 25.1%; Amish 33.0%.
Estimated GA genotype frequency.
Global 5.9%; European 2.6%; African 14.4%; East Asian 1.5%; South Asian 5.5%; Americas 2.3%; Ashkenazi 3.0%; Finnish 2.7%; Middle Eastern 2.2%; Amish 4.4%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Organ Systems
Vision & Eye Health
Exfoliation Syndrome. Evidence: 8/10. Source: PMID 17690259. Increased Risk.
Exfoliation Glaucoma. Evidence: 8/10. Source: PMID 17690259. ~10x Higher Risk.
Open-Angle Glaucoma. Evidence: 8/10. Source: PMID 38382466. Typical Risk.
Cardiovascular & Metabolic
Vascular Health & Aneurysm
Artery Dissection. Evidence: 3/10. Source: PMID 17690546. Slightly Higher Risk.
Showing effects for A/A genotype
Exfoliation Syndrome. Evidence: 8/10. Source: PMID 17690259. Greatly Lower Risk.
Exfoliation Glaucoma. Evidence: 8/10. Source: PMID 17690259. ~10x to 27x Lower.
Artery Dissection. Evidence: 3/10. Source: PMID 17690546. Typical Risk.
Showing effects for G/A genotype
Exfoliation Syndrome. Evidence: 8/10. Source: PMID 17690259. Lower Risk.
Exfoliation Glaucoma. Evidence: 8/10. Source: PMID 17690259. Lower Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
This genotype is characterized by having two copies of the G allele, which encodes the amino acid glycine at position 153 of the LOXL1 protein [1]. In most global populations, this is the ancestral and most common genotype, yet it represents the primary genetic risk factor for exfoliation syndrome and its progression to exfoliation glaucoma [1] [2]. The LOXL1 gene is responsible for maintaining elastic fibers in ocular tissues, and the G allele is associated with protein misfolding and the accumulation of abnormal fibrillar deposits in the front of the eye [3]. Studies indicate that individuals with this genotype have an estimated 10-fold higher risk of developing exfoliation glaucoma compared to those with the protective A/A genotype [2]. However, because this variant is highly common, many individuals with this genotype never develop glaucoma, as the condition typically manifests later in life and is influenced by environmental factors [2] [4]. Interestingly, in black South African populations, the risk association is reversed, and the G allele is actually protective [5].
Significantly increased risk of exfoliation syndrome; Higher risk of exfoliation glaucoma; Potential accumulation of abnormal ocular deposits.
Sample genotype: AA (Homozygous)
This genotype consists of two copies of the protective A allele, which encodes the amino acid aspartate at position 153 of the LOXL1 protein [1]. Individuals with this genotype enjoy a 10-fold to 27-fold lower risk of developing exfoliation syndrome and exfoliation glaucoma compared to those with the common G/G genotype [1] [2]. The homozygous A/A genotype is associated with optimal lysyl oxidase-like 1 protein function, preventing the abnormal accumulation of protein fibers that can clog the eye's drainage system [3]. This protective effect is highly consistent across European, Asian, and American populations [2] [4]. However, in black South African populations, the association is reversed, and the A allele is linked to an increased risk [5]. For most ancestries, this genotype represents a highly favorable genetic profile that significantly lowers the lifetime probability of developing secondary open-angle glaucoma [2].
Greatly reduced risk of exfoliation syndrome; Very low risk of exfoliation glaucoma; Highly stable LOXL1 protein structure.
Sample genotype: GA (Heterozygous)
This genotype represents a heterozygous state with one copy of the G allele and one copy of the protective A allele, which encodes aspartic acid [1]. Having one copy of the A allele significantly reduces the risk of developing exfoliation syndrome and exfoliation glaucoma compared to the common G/G genotype [1] [2]. The presence of the A allele is thought to alter the structural stability of the LOXL1 protein, reducing the likelihood of protein misfolding and the subsequent accumulation of fibrillar deposits in the eye [3]. Clinical studies have shown that heterozygous individuals have a substantially lower risk of ocular hypertension and optic nerve damage associated with exfoliation [2] [4]. While the protective effect is strong, regular eye examinations remain important as age and environmental factors still play a role in overall eye health [4]. In most populations, this genotype is considered highly favorable for long-term vision health [2].
Reduced risk of exfoliation syndrome; Lower risk of exfoliation glaucoma; Decreased likelihood of ocular fibrillar deposits.
Variants with shared genetic architecture
rs1048661 · LOXL1 Gene · Chr 15 · Exfoliation Glaucoma Risk
rs2165241 · 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.
Association of LOXL1 gene with Finnish exfoliation syndrome patients.
Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.
An investigation into LOXL1 variants in black South African individuals with exfoliation syndrome.
Content updated August 2026.
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