What you carry at this position in your DNA and what research says about it.
Gaucher Disease: 7/10 evidence, 16 publications.
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Sample genotype (not yours): T/T
Typical Gaucher and Parkinson's Risk
Two copies of the typical gene sequence are present. This genotype is associated with normal glucosylceramidase enzyme activity and no elevated genetic risk for Gaucher or Parkinson's disease.
What this genotype means: Normal glucosylceramidase enzyme activity; Baseline risk for Parkinson's disease.
Sample genotype (not yours): C/C
Gaucher Disease Type 1 and Elevated Parkinson's Risk
Two copies of the C variant are present, which causes Type 1 Gaucher disease. This genotype is also associated with a significantly increased risk of developing Parkinson's disease.
What this genotype means: Causes Type 1 Gaucher disease; Significantly increased risk of Parkinson's disease; Significantly increased risk of REM sleep behavior disorder.
Sample genotype (not yours): T/C
Carrier of Gaucher and Increased Parkinson's Risk
One copy of the C variant is present, making this genotype a healthy carrier for Gaucher disease. However, carrying this single variant is associated with an increased risk of developing Parkinson's disease.
What this genotype means: Healthy carrier of Gaucher disease; Increased risk of developing Parkinson's disease; Increased risk of REM sleep behavior disorder.
Gene function and biological role
Gene Function: The GBA1 gene encodes glucosylceramidase beta, a crucial lysosomal enzyme responsible for breaking down a specific glycolipid called glucosylceramide [1]. When this enzyme is deficient, the fatty substance accumulates in various organs, particularly the spleen, liver, and bone marrow [2]. Although historically studied as the cause of Gaucher disease, GBA1 is now recognized as one of the most significant genetic risk factors for Parkinson's disease [3]. Reduced enzyme activity is thought to promote the accumulation of toxic alpha-synuclein aggregates in the brain, linking lysosomal dysfunction directly to neurodegeneration [4].
Variant Impact: The rs76763715 variant, widely known as N370S or p.Asn409Ser, represents a missense mutation in the GBA1 gene where asparagine is replaced by serine [5]. This specific amino acid substitution alters the folding of the glucosylceramidase enzyme, leading to a significant reduction in its catalytic activity [6]. It is the most common pathogenic GBA1 variant in populations of Ashkenazi Jewish descent, where it occurs at a much higher frequency than in the general population [7]. Unlike other severe GBA1 mutations, this variant is specifically associated with non-neuropathic Type 1 Gaucher disease, meaning it does not typically cause primary neurological symptoms in childhood [8].
Key Insight: Carrying even a single copy of this variant increases the risk of Parkinson's disease, but the vast majority of carriers never develop the condition.
Location: GBA1. Chromosome 1 · 1q22 · 155.2 Mb
Estimated prevalence by population
Global 99.6%; European 99.6%; African > 99.9%; East Asian 100.0%; South Asian > 99.9%; Americas 99.8%; Ashkenazi 94.3%; Finnish 99.8%; Middle Eastern 100.0%; Amish 96.5%.
Estimated TT genotype frequency.
Global 0.4%; European 0.4%; African < 0.1%; East Asian 0.0%; South Asian < 0.1%; Americas 0.2%; Ashkenazi 5.7%; Finnish 0.2%; Middle Eastern 0.0%; Amish 3.5%.
Estimated TC genotype frequency.
Global < 0.1%; European < 0.1%; African < 0.1%; East Asian 0.0%; South Asian < 0.1%; Americas < 0.1%; Ashkenazi 0.1%; Finnish < 0.1%; Middle Eastern 0.0%; Amish < 0.1%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Rare Genetic Disorders
Inherited Metabolic Disorders
Gaucher Disease. Evidence: 7/10. Source: PMID 26096741. Typical Risk.
Neurology & Mental Health
Neurodegenerative Diseases
Parkinson's Disease. Evidence: 10/10. Source: PMID 31701892. Typical Risk.
Sleep & Circadian Rhythm
REM Sleep Behavior Disorder. Evidence: 7/10. Source: PMID 36470867. Typical Risk.
Pharmacogenomics
Drug Metabolism Enzyme Activity
Enzyme Activity. Evidence: 8/10. Source: PMID 40299299. Normal Activity.
Showing effects for C/C genotype
Gaucher Disease. Evidence: 7/10. Source: PMID 26096741. Type 1 Gaucher.
Parkinson's Disease. Evidence: 10/10. Source: PMID 31701892. Highly Increased Risk.
REM Sleep Behavior Disorder. Evidence: 7/10. Source: PMID 36470867. Highly Increased Risk.
Enzyme Activity. Evidence: 8/10. Source: PMID 40299299. Severely Reduced.
Showing effects for T/C genotype
Gaucher Disease. Evidence: 7/10. Source: PMID 26096741. Healthy Carrier.
Parkinson's Disease. Evidence: 10/10. Source: PMID 31701892. Increased Risk.
REM Sleep Behavior Disorder. Evidence: 7/10. Source: PMID 36470867. Increased Risk.
Enzyme Activity. Evidence: 8/10. Source: PMID 40299299. Reduced Activity.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Having two copies of the reference T allele means the body produces fully functional glucosylceramidase beta enzyme [1]. This normal enzyme activity prevents the abnormal accumulation of glycolipids in lysosomes, maintaining healthy cellular function in the spleen, liver, and bone marrow [2]. Consequently, there is no genetic predisposition to Gaucher disease, an inherited lysosomal storage disorder [3]. Additionally, this genotype is associated with a baseline, typical risk for developing Parkinson's disease and related neurodegenerative conditions like Lewy body dementia [4]. Because the enzyme functions normally, there is also no elevated risk for REM sleep behavior disorder, which is often an early indicator of neurodegenerative progression [5].
Normal glucosylceramidase enzyme activity; Baseline risk for Parkinson's disease.
Sample genotype: CC (Homozygous)
Having two copies of the C allele causes Type 1 Gaucher disease, a lysosomal storage disorder characterized by reduced glucosylceramidase activity [1]. This enzyme deficiency leads to the accumulation of fatty substances in the spleen, liver, and bones, though symptoms vary widely and can be extremely mild or even undetectable [2]. Unlike other forms of Gaucher disease, Type 1 does not cause primary neurological symptoms during childhood [3]. However, this genotype is associated with a highly elevated risk of developing Parkinson's disease later in life [4]. It is also strongly linked to REM sleep behavior disorder, a condition where individuals physically act out their dreams [5]. Regular clinical follow-ups can help manage bone and visceral symptoms if they arise [2].
Causes Type 1 Gaucher disease; Significantly increased risk of Parkinson's disease; Significantly increased risk of REM sleep behavior disorder.
Sample genotype: TC (Heterozygous)
Carrying a single copy of the C allele reduces glucosylceramidase enzyme activity, but the remaining functional enzyme is typically sufficient to prevent Gaucher disease [1]. While individuals with this genotype are considered healthy carriers who will not develop Gaucher disease, they face a significantly higher risk of Parkinson's disease [2]. Research indicates that GBA1 mutation carriers have approximately a 5-fold to 7-fold increased risk of developing Parkinson's compared to non-carriers [3]. This genetic change is also linked to an elevated risk of Lewy body dementia and REM sleep behavior disorder [4]. Despite these increased risks, the vast majority of people with this genotype will never develop Parkinson's or any related neurological condition [5].
Healthy carrier of Gaucher disease; Increased risk of developing Parkinson's disease; Increased risk of REM sleep behavior disorder.
Variants with shared genetic architecture
rs34311866 · TMEM175 Gene · Chr 4 · Parkinson Disease Risk
rs1064794288 · GAA Gene · Chr 17 · Pompe Disease Risk
rs121907938 · GAA Gene · Chr 17 · Pompe Disease Risk
Gaucher's disease: molecular, genetic and enzymological aspects.
Glucocerebrosidase mutations in primary parkinsonism.
Mutations in GBA and risk of Parkinson's disease: a meta-analysis based on 25 case-control studies.
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
Content updated August 2026.
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