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Parkinson is a genetic disease

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A disorder that progresses gradually within the nervous system is known as Parkinson's disease. It impacts several parts of the brain, primarily a region referred to as substantia nigra which governs movement and balance.

The beginning manifestation of Parkinson's disease is often depicted through the trembling or shaking (tremor) of a limb, most commonly observed at rest. This tremor typically initiates on one side of the body, frequently in one hand; however it can also affect other parts such as arms, legs and face. Additional indications defining Parkinson’s are stiffness or rigidity within limbs and torso areas alongside slow movement (bradykinesia), incapability to move (akinesia) accompanied by impaired balance and coordination leading towards postural instability. These symptoms gradually worsen with time elapsed from onset.

Approximately 10% to 15% of Parkinson's cases are attributed to genetics. In particular families, specific genes undergo alterations or mutations that get passed down from one generation to the next. Certain ethnic groups like Ashkenazi Jews and North African Arab Berbers have a higher prevalence of PD-linked genes, although researchers still require further comprehension on this phenomenon.

Irrespective of the cause, whether it be genetics or environmental factors or a mix of both, individuals diagnosed with Parkinson's disease will undergo a decrease in dopamine levels within their brain. Furthermore, they'll experience symptoms specific to themselves and observe how their ailment progresses over time.

Gene alterations (mutations) have been discovered by scientists that can raise the likelihood of Parkinson's illness. The presence of a mutation in a Parkinson's gene does not automatically imply that an individual will develop PD if they test positively for it. Certain individuals who possess mutations related to Parkinsonism genes such as LRRK2and GBA never contract PD nonetheless.

Although a hereditary genetic mutation that heightens the likelihood of developing Parkinson's disease can be passed down to an individual, this risk factor may potentially be counterbalanced by various other inherited genes, environmental exposures or personal lifestyle choices. Currently, several gene tests exist for detecting mutations connected with Parkinson’s - these include GBA, LRRK2, PRKN SNCA PINK1 PARK7 and VPS35.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Parkinson's disease and see a list of existing studies.

SNP polymorphisms related to the topic Parkinson's disease:

rs287235Variation in ubiquitin-specific protease USP24 as a candidate gene for late-onset Parkinson's disease.
rs11248051Variation in GAK, one of the susceptibility genes for familial Parkinson's disease.
rs1994090The SLC2A13 polymorphism is a significant genetic component for Parkinson's disease.
rs823156The rs823156 polymorphism is associated with a reduced risk of Parkinson's disease.
rs4698412The rs4698412 BST1 allelic variant increases the risk of gait or balance disorders in patients with Parkinson's disease.
rs12456492The RIT2 rs12456492 polymorphism is associated with Parkinson's disease.
rs3129882The HLA-DRB1 allele variant is associated with susceptibility to sporadic Parkinson's disease.
rs11248060The DGKQ rs11248060 polymorphism increases the risk of Parkinson's disease in the population.
rs1559085The CAST polymorphism is associated with susceptibility to familial Parkinson's disease.
rs2736990SNCA rs2736990 variants are associated with a twofold increased likelihood of Parkinson's disease.
rs4538475Slightly increased risk of developing Parkinson's disease.
rs6812193SCARB2 gene expression as an essential genetic component for Parkinson's disease.
rs947211Polymorphisms in genes associated with neurodegeneration are associated with Parkinson's disease risk.
rs199533NSF replication carries a genetic risk underlying Parkinson's disease.
rs35870237Mutations in the LRRK2 gene cause autosomal dominant parkinsonism with onset at an older age and good response to levodopa therapy.
rs33939927Mutation in LRRK2 causes autosomal dominant parkinsonism with pleomorphic pathology.
rs34805604Mutation in LRRK2 causes autosomal dominant parkinsonism with pleomorphic pathology.
rs35801418Mutation in LRRK2 causes autosomal dominant parkinsonism with pleomorphic pathology.
rs35808389Mutation in LRRK2 causes autosomal dominant parkinsonism with pleomorphic pathology.
rs3761863Missense LRRK2 variant is a risk factor for Parkinson's disease.
rs7133914Missense LRRK2 variant is a risk factor for Parkinson's disease.
rs7308720Missense LRRK2 variant is a risk factor for Parkinson's disease.
rs74163686Missense LRRK2 variant is a risk factor for Parkinson's disease.
rs78365431Missense LRRK2 variant is a risk factor for Parkinson's disease.
rs34778348LRRK2 variant is a risk factor for sporadic Parkinson's disease
rs34995376LRRK2 mutation associated with the development of Parkinson's disease (6.5-fold increased risk) and progressive supranuclear palsy.
rs33949390LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the population (3.3-fold increased risk).
rs11176013Low levels of LRRK2 gene expression contribute to the progression of Parkinson's disease.
rs11564148Low levels of LRRK2 gene expression contribute to the progression of Parkinson's disease.
rs421016Known as L444P or Leu444Pro, is a SNP causing an amino acid change in the GBA gene. It is one of the most common mutations associated with a risk of Gaucher disease and at least 5 times the risk of Parkinson's disease.
rs2102808Increased risk of Parkinson's disease at a young age.
rs242557High levels of cerebrospinal tau are associated with the rs242557 gene variant and a high risk of Parkinson's and Alzheimer's disease.
rs393152Genetic risk underlying Parkinson's disease.
rs11868035Causes increased plasma free fatty acids, predisposing to early cognitive impairment in type 2 diabetes mellitus.
rs823128Association of the rs823128 polymorphism with reduced risk of Parkinson's disease.
rs356219Alpha-synuclein gene polymorphism is associated with an increased risk (1.3-fold) of Parkinson's disease.
rs11931074A study involving 45,078subjects confirms an association between SNCA alpha-synuclein alpha rs11931074 and Parkinson's disease.
rs356220A single SNCA rs356220 polymorphism is directly associated with Parkinson's disease and plasma alpha-synuclein levels.
rs283413A rare truncating mutation in ADH1C shows a significant association with Parkinson's disease in a large international sample.
rs112176450A rare EIF4G1 mutation causes an 8-fold increase in Parkinson's disease.
rs4998386A polymorphism in the NMDA glutamate ionotropic receptor type 2A subunit 2A (GRIN2A) gene causes at least a 5-fold higher risk of Parkinson's disease when interacting with caffeine.
rs10513789A new locus of increased risk for Parkinson's disease.
rs6599389A new locus in the TMEM175 gene for Parkinson's disease risk.
rs34637584A frequent mutation of the LRRK2 gene associated with autosomal dominant Parkinson's disease.
rs281865052A common missense variant in the LRRK2 gene associated with risk of Parkinson's disease (6.5-fold increased risk).
rs281865054A common missense variant in the LRRK2 gene associated with risk of Parkinson's disease (6.5-fold increased risk).
rs34410987A common missense variant in the LRRK2 gene associated with high risk of Parkinson's disease.
rs838552A break in the USP40 gene increases the risk of late-onset Parkinson's disease.
rs34594498A break in the LRRK2 gene is associated with essential tremor and Parkinson's disease.
rs35095275
rs775129424
rs66737902
rs1442190
rs1630500
rs17577094
rs7971935
rs3889917
rs3775442
rs2619369
rs1866995
rs2846468
rs12174214
rs2849518
rs7454474
rs10918270
rs1941184
rs2395163
rs9917256
rs12726330
rs2275336
rs11026412
rs7617877
rs6430538
rs12063142
rs199515
rs6532194
rs12431733
rs34372695
rs12185268
rs8070723
rs11711441
rs183211
rs10464059
rs6532197
rs2242330
rs10519131
rs2723264
rs11564187
rs4912537
rs117499775
rs2435203
rs12947764
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