What you carry at this position in your DNA and what research says about it.
Exfoliation Glaucoma Risk: 8/10 evidence, 56 publications.
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Sample genotype (not yours): G/G
Higher Glaucoma Risk, Typical Aortic Health
An increased risk of developing exfoliation glaucoma is associated with this profile, particularly in individuals of Caucasian descent.
What this genotype means: Increased risk of exfoliation glaucoma in Caucasians; Typical aortic diameter; Increased risk of carpal tunnel syndrome.
Sample genotype (not yours): G/T
Moderate Glaucoma Risk, Increased Grip Strength
One copy of the risk allele for exfoliation glaucoma in Caucasians is present here, alongside a link to slightly higher physical grip strength.
What this genotype means: Moderate risk of exfoliation glaucoma; Slightly higher grip strength; Slightly increased risk of carpal tunnel syndrome.
Sample genotype (not yours): T/T
Typical Glaucoma Risk in Caucasians, Larger Aorta
A lower risk of exfoliation glaucoma in Caucasians is characteristic of this profile, though it is linked to a larger aortic diameter.
What this genotype means: Lower risk of exfoliation glaucoma in Caucasians; Larger descending aorta diameter; Higher grip strength.
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 various tissues [1]. It plays a critical role in the extracellular matrix, particularly in the eye, blood vessels, and skin [1] [2]. Decreased expression or activity of this enzyme leads to the accumulation of abnormal protein aggregates [2]. This process is a hallmark of systemic conditions like exfoliation syndrome, which can progress to severe glaucoma [1] [2].
Variant Impact: The rs1048661 variant is a missense mutation in exon 1 of the LOXL1 gene, resulting in an amino acid substitution from arginine to leucine at position 141 (p.Arg141Leu) [1]. This structural change alters the stability of the lysyl oxidase-like 1 protein, affecting its ability to properly cross-link elastin fibers [1] [2]. The variant is highly prevalent globally, but its clinical impact varies significantly by ancestry [2] [3]. In Caucasian populations, the ancestral G allele is strongly associated with exfoliation syndrome, whereas in East Asian populations, the T allele acts as the risk-conferring variant [3] [4].
Key Insight: The risk allele for exfoliation glaucoma completely flips depending on ancestry: the G allele is the risk factor in Caucasians, while the T allele is the risk factor in East Asians.
Location: LOXL1. Chromosome 15 · 15q24.1 · 73.9 Mb
Estimated prevalence by population
Global 51.9%; European 45.8%; African 69.1%; East Asian 20.7%; South Asian 44.9%; Americas 45.8%; Ashkenazi 55.3%; Finnish 47.8%; Middle Eastern 65.9%; Amish 56.3%.
Estimated GG genotype frequency.
Global 39.3%; European 43.7%; African 28.0%; East Asian 49.6%; South Asian 44.2%; Americas 43.7%; Ashkenazi 38.1%; Finnish 42.7%; Middle Eastern 30.6%; Amish 37.4%.
Estimated GT genotype frequency.
Global 8.8%; European 10.4%; African 2.8%; East Asian 29.7%; South Asian 10.9%; Americas 10.4%; Ashkenazi 6.6%; Finnish 9.5%; Middle Eastern 3.5%; Amish 6.2%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Organ Systems
Vision & Eye Health
Exfoliation Glaucoma. Evidence: 5/10. Source: PMID 17690259. Increased Risk.
Bone, Joint & Connective Tissue Health
Carpal Tunnel Syndrome. Evidence: 7/10. Source: PMID 35332129. Increased Risk.
Cardiovascular & Metabolic
Vascular Health & Aneurysm
Aortic Diameter. Evidence: 8/10. Source: PMID 34837083. Typical.
Lifestyle, Fitness & Aging
Muscle Strength & Power
Grip Strength. Evidence: 7/10. Source: PMID 40374629. Typical.
Showing effects for G/T genotype
Carpal Tunnel Syndrome. Evidence: 7/10. Source: PMID 35332129. Slightly Increased Risk.
Aortic Diameter. Evidence: 8/10. Source: PMID 34837083. Slightly Larger.
Grip Strength. Evidence: 7/10. Source: PMID 40374629. Higher Strength.
Showing effects for T/T genotype
Exfoliation Glaucoma. Evidence: 5/10. Source: PMID 17690259. Typical Risk.
Carpal Tunnel Syndrome. Evidence: 7/10. Source: PMID 35332129. Typical Risk.
Aortic Diameter. Evidence: 8/10. Source: PMID 34837083. Larger Diameter.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
The presence of two G alleles is a well-documented risk factor for exfoliation syndrome and exfoliation glaucoma in Caucasian populations [1] [2]. This genetic variant alters the lysyl oxidase-like 1 enzyme, leading to the accumulation of abnormal fibrillar deposits in the eye [2] [3]. Over time, these deposits can block fluid drainage, increasing intraocular pressure and potentially leading to vision loss [1] [3]. Interestingly, this risk profile is reversed in East Asian populations, where the G allele is actually protective [4]. On the positive side, this genotype is associated with a typical, smaller descending aorta diameter, which is favorable for cardiovascular health [5]. It is also the higher-risk genotype for carpal tunnel syndrome, where G rather than T is the risk allele [6].
Increased risk of exfoliation glaucoma in Caucasians; Typical aortic diameter; Increased risk of carpal tunnel syndrome.
Sample genotype: GT (Heterozygous)
A heterozygous profile containing one G allele and one T allele represents an intermediate genetic profile with diverse physical effects. In Caucasian populations, having at least one G allele is associated with an elevated risk of exfoliation glaucoma due to altered elastin fiber maintenance in the eye [1] [2]. Conversely, in East Asian populations, the T allele is the risk-conferring variant, meaning heterozygous individuals still face moderate risk regardless of ancestry [3] [4]. On a physical level, the T allele is associated with increased hand grip strength, which is a key marker of overall muscular health and healthy aging [5]. However, the T allele also slightly increases the diameter of the descending aorta [6]. Carpal tunnel syndrome runs the other way at this variant: G is the risk allele there, so one copy leaves a slightly increased risk [7].
Moderate risk of exfoliation glaucoma; Slightly higher grip strength; Slightly increased risk of carpal tunnel syndrome.
Sample genotype: TT (Homozygous)
Two copies of the T allele are protective against exfoliation glaucoma in individuals of Caucasian descent, as they lack the high-risk G allele [1] [2]. However, in East Asian populations, the T allele is the primary risk factor for this condition, meaning East Asians with this genotype have an increased risk [3] [4]. Beyond eye health, this genotype is associated with a larger descending aorta diameter, which is a key cardiovascular measurement [5]. It is also linked to significantly higher hand grip strength, suggesting a positive influence on muscle function and physical resilience [6]. Finally, this genotype carries the lowest carpal tunnel risk at this variant, because the risk allele for that condition is G rather than T [7].
Lower risk of exfoliation glaucoma in Caucasians; Larger descending aorta diameter; Higher grip strength; Lower risk of carpal tunnel syndrome.
Variants with shared genetic architecture
rs2165241 · 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.
Deep learning enables genetic analysis of the human thoracic aorta.
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.
Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population.
Content updated August 2026.
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