Six of these positions shift the odds slightly and mean nothing on their own. The seventh is different in kind, and it is the reason this page spends more space on what a result cannot tell you than on what it can.
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
Parkinson's disease is a movement disorder caused by the loss of dopamine-producing neurons in the substantia nigra, a small structure deep in the midbrain. Tremor, slowness and rigidity appear once a substantial fraction of those cells are already gone, which is why the diagnosis arrives years after the process starts.
It was long described as the environmental disease — the one caused by something you were exposed to rather than something you inherited. That turned out to be half right.
A 2011 meta-analysis of five genome-wide studies looked at 5,333 cases against 12,019 controls, then repeated the exercise in an independent 7,053 cases and 9,007 controls. Eleven positions passed genome-wide significance. Two of them — MAPT and SNCA — were already known; the rest were new.
A different study the same year recruited its participants online, reaching 3,426 cases and 29,624 controls. It found rs6812193 near SCARB2 and replicated twenty earlier findings, and it put a number on the whole question: heritability at least 0.27.
So the environmental account was incomplete. Inheritance matters here, and rather more than the textbooks said.
Six of the seven variants on this page are ordinary common-variant findings. They shift risk by a few percent, they are carried by large fractions of everyone, and no combination of them tells an individual anything useful.
rs34637584 is a different object. It is LRRK2 G2019S — a single amino-acid change, not a marker near a gene but the change itself, and the most common known genetic cause of Parkinson's disease.
It is rare in most populations and much less rare in others: it accounts for a substantial share of cases among Ashkenazi Jewish and North African Arab populations, and very few elsewhere.
Carrying G2019S does not mean developing Parkinson's disease. Published estimates of lifetime risk in carriers vary widely between studies and populations, and the honest summary is that a majority of carriers do not develop the disease — but the risk is real and it is far above the population baseline.
That combination — clearly elevated, clearly not certain, and not estimable precisely for an individual — is the hardest kind of genetic result to receive.
There is no treatment that prevents Parkinson's disease and no test that says when or whether it will start. A person who learns they carry G2019S gains no action they can take and no date they can plan around.
This is why predictive testing for adult-onset conditions with no preventive treatment is done through genetic counselling rather than through a saliva kit. The counselling is not a formality: what is being decided is whether to know something that cannot be acted on, and that decision is different for everyone.
If you already have a genotype file that shows this variant, or Parkinson's disease runs in your family, the useful next step is a neurologist or a clinical geneticist. Not this page.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 131 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Nalls MA et al. 2019, The Lancet. Neurology rs10221156 (CHD9), rs10756907 (SH3GL2), rs114138760 (PMVK), rs11557080 (RAB29), rs11578699 (VAMP4), rs11610045 (FBRSL1), rs117073808 (LRRK2), rs11707416 (MED12L), rs117615688 (CRHR1), rs12147950 (MIPOL1), rs12283611 (DLG2), rs12600861 (CHRNB1) and 32 more — PMID:31701892
Kim JJ et al. 2024, Nature genetics rs12734374 (ASH1L), rs41286192 (SLC18B1), rs35682329 (HMGN2P18), rs28370650 (SLC2A13), rs75541595 (CCSER1), rs118117788 (near SEC23IP), rs75072999 (GAK), rs79483792 (near SNCA), rs73273590 (CNTN1), rs79214011 (MMRN1), rs8018800 (WDHD1), rs35161831 (CCT3) and 24 more — PMID:38155330
Smeland OB et al. 2021, Biological psychiatry rs10516839 (SNCA), rs113564729 (KANSL1), rs12651314 (BST1), rs138895122 (PKP2), rs140278703 (MCCC1), rs140820592 (STX1B), rs148534175 (POLRMTP1), rs28624974 (KLHL7), rs34884217 (TMEM175), rs3889108 (RP11-162I7), rs77669894 (BICD1), rs8005172 (GPR65) — PMID:32201043
Nalls MA et al. 2014, Nature genetics rs11060180 (CCDC62), rs76904798 (LRRK2), rs117896735 (INPP5F), rs199347 (GPNMB), rs34311866 (TMEM175), rs9275326 (HLA-DQB), rs10797576 (SIPA1L2), rs1474055 (STK39), rs35749011 (GBA), rs14235 (BCKDK), rs1555399 (TMEM229B), rs2414739 (VPS13C) — PMID:25064009
Rodrigo LM et al. 2021, Genes rs11653889 (HASPIN), rs117672332 (HASPIN), rs137887044 (WDR41), rs145330152 (ASH1L), rs187989831 (TEKT4), rs199501 (WNT3), rs78837976 (MUC12) — PMID:34064523
Verma A et al. 2024, Science (New York, N.Y.) rs368657122 (near H2ACP1), rs145533835 (near RNA5SP102), rs528521148 (COMMD1), rs73415968 (LDLRAD4), rs559557961 (near TPRA1), rs1311506805 (SPATA6) — PMID:39024449
Xie Y et al. 2026, NeuroImage rs470934 (MBP), rs1708104 (MOBP), rs10859535 (near SOCS2) — PMID:42336304
Chang D et al. 2017, Nature genetics rs143918452 (ALAS1), rs4653767 (ITPKB), rs9468199 (ZNF184) — PMID:28892059
Pan H et al. 2023, NPJ Parkinson's disease rs34594498 (LRRK2), rs61204179 (HEATR6) — PMID:36759515
Hill-Burns EM et al. 2016, Human molecular genetics rs117267308 (TPM1), rs344650 (LHFPL2) — PMID:27402877
Ryu HS et al. 2020, Frontiers in neurology rs144125291 (GALNT14) — PMID:32733355
Brolin K et al. 2022, Journal of Parkinson's disease rs12771445 (PLPP4) — PMID:34776419
Bandres-Ciga S et al. 2019, Movement disorders : official journal of the Movement Disorder Society rs190807041 (LRRK2) — PMID:31660654
Foo JN et al. 2020, JAMA neurology rs246814 (SV2C) — PMID:32310270
2026-05-22 · Genome-wide association and population-tailored polygenic risk for Parkinson's disease in Taiwan. NPJ Parkinson's Disease. 2026. DOI:10.1038/s41531-026-01349-0
Parkinson's disease (PD) genetic risk remains under-characterized in East Asian populations. This study genotyped 2,245 Taiwanese PD patients against 2,147 controls and confirmed genome-wide significant associations at SNCA and MCCC1 -- both already on this site's Parkinson's page -- with suggestive signals at GCH1, PPARGC1A and GALNT13. The more distinctive contribution was refining the SNCA signal into an East Asian-enriched risk haplotype not previously delineated this precisely, and confirming that two specific LRRK2 variants, p.G2385R and p.R1628P, carry risk effects with evidence consistent with a gene-dosage effect (more copies, more risk) -- these are well-known East Asian-specific PD risk variants but had not been this rigorously characterized in a Taiwan-specific cohort. A polygenic risk score built from European data showed only modest discrimination in this Taiwanese cohort (AUC 0.59), directly illustrating the population-specific tailoring problem this study set out to address. This site's Parkinson's page carries 89 variants including SNCA and MCCC1; this entry adds the East Asian-specific haplotype refinement and LRRK2 dosage-effect context rather than introducing unrelated new genes.
2026-04-20 · Genome-wide association study of copy number variations in Parkinson's disease. NPJ Parkinson's Disease. 2026. DOI:10.1038/s41531-025-01245-z
Most GWAS look for single-letter DNA changes (SNPs). This study instead looked at copy number variations (CNVs) -- deletions or duplications of whole chunks of DNA -- across 10,815 Parkinson's disease (PD) patients (2,731 with early-onset PD) and 8,901 controls from the COURAGE-PD consortium. No genome-wide significant CNVs emerged in the overall cohort, but a specific deletion spanning exons 2-6 of PRKN was strongly enriched in early-onset PD cases specifically, validated by an independent lab technique (MLPA) and replicated in the GP2 dataset (23,089 cases, 18,824 controls). PRKN carriers of this deletion had a significantly earlier age at onset, confirmed by survival analysis. This reinforces PRKN's known role in early-onset PD but via a structural mechanism (a missing chunk of the gene) rather than the point mutations most genetic tests screen for -- a reminder that a clean PRKN sequencing result doesn't rule out a PRKN-driven cause if a deletion wasn't specifically tested for. This site's Parkinson's page does not currently document PRKN CNV findings specifically, only point-variant associations.
2026-05-27 · Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome-Wide Association Study Results. American Journal of Medical Genetics Part B. 2026. DOI:10.1002/ajmg.b.70024
In East Asian data too, quitting smoking and Parkinson's disease share genetic ground
Smoking has long been epidemiologically associated with lower Parkinson's disease (PD) risk, a paradoxical finding usually studied in European cohorts. This study used East Asian ancestry-specific GWAS summary statistics for tobacco use, alcohol use, Alzheimer's disease (AD) and PD to test whether these genetic correlations hold outside European populations, then confirmed findings in complementary European data. It found a genuine global genetic correlation between smoking cessation and PD in East Asian data, matching the direction seen in European studies -- evidence the smoking-PD relationship isn't a population-specific artifact. A separate, more exploratory gene-set enrichment analysis highlighted potentially shared genetic mechanisms between breast cancer and AD, a genuinely unexpected connection the authors explicitly flag as needing further investigation rather than treating as established. This is a correlation-level study without individual risk variants to report, so it's recorded here as supporting context for the smoking-PD relationship discussed on this site's Parkinson's disease page (89 variants) rather than as a new variant.
2026-09-08 · Schumacher JG, et al. MC1R loss-of-function is associated with accelerated Parkinson's disease motor decline. JAMA Neurology. 2026. DOI:10.1001/jamaneurol.2026.2998
Common MC1R variant, carried by most Europeans, linked to faster Parkinson's disease motor decline
A Mass General Brigham-led study using up to 12 years of longitudinal data from the Parkinson's Precision Medicine Initiative found that common loss-of-function variants in MC1R -- the same gene behind red hair and fair skin, carried by more than 60% of people of European descent -- associate with faster motor decline in sporadic Parkinson's disease. In the primary cohort of 383 participants, carriers declined about 30% faster than non-carriers, with a clear dose effect: 27% faster with one copy, 63% faster with two. A separate replication cohort of 587 patients showed carriers declining about 50% faster. MC1R already appears on this catalogue, but only for unrelated traits (hair color, vitiligo, skin cancer risk) -- this Parkinson's-specific finding does not yet have a published rsID-level GWAS Catalog record, so no new variant page was added, but it is a genuine, verified addition to what this page says about who experiences faster progression.
Sources. International Parkinson Disease Genomics Consortium (Lancet 2011) meta-analysed five GWAS datasets from the USA and Europe: discovery of 5,333 cases and 12,019 controls with genotyped and imputed data at 7,689,524 SNPs, replication in 7,053 cases and 9,007 controls, identifying 11 loci past genome-wide significance. Do et al. (PLoS Genet 2011) conducted a web-based case-control GWAS of 3,426 cases and 29,624 controls, reporting rs6812193 near SCARB2 (p = 7.6 × 10⁻¹⁰, OR 0.84) and rs11868035 near SREBF1/RAI1 (p = 5.6 × 10⁻⁸, OR 0.85), both replicated in an independent cohort, alongside replication of 20 previously reported associations including LRRK2, GBA, SNCA, MAPT, GAK and the HLA region.
Heritability and prediction. Do et al. estimated the heritability of Parkinson's disease at at least 0.27 using genome-wide sharing between distantly related individuals, and reported sparse-regression predictive models accounting for 6–7% of the variance in liability — a figure the authors themselves frame as indicating a substantial but far from total genetic contribution.
LRRK2 G2019S (rs34637584). A missense substitution in the kinase domain of leucine-rich repeat kinase 2, and the most common known monogenic cause of Parkinson's disease. Frequency is strongly population-dependent, being appreciably higher in Ashkenazi Jewish and North African Arab populations than in most others. Penetrance is incomplete and age-dependent, and published estimates differ substantially between ascertainment designs; family-based series generally give higher figures than population-based ones. It is not equivalent in kind to the common-variant associations elsewhere on this page and should not be interpreted alongside them as though it were.
Clinical use. No disease-modifying therapy exists, and no genotype currently alters management. Predictive testing in an asymptomatic person is a counselled decision, not a laboratory one. Diagnosis remains clinical, supported where necessary by dopamine transporter imaging.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Parkinson's Disease comes down to these specific, well-studied positions — not a diagnosis. 138 positions are linked to this page; the ones this page's own text discusses are shown first.
CHD9 · rs10221156
See detailed info →The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 89 of 138 linked studies with a resolved discovery ancestry.
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Parkinson's Disease. MyGeneLog™. https://www.mygenelog.com/conditions/parkinsons-disease
That the risk is well above the population baseline and still not a certainty — most carriers do not develop Parkinson’s disease. Published penetrance estimates vary widely with study design, and none of them produces a number for one person. There is no preventive treatment, so nothing changes today. Take it to a clinical geneticist or a neurologist rather than to a search engine; that is what the counselling around this variant exists for.
That was the older view and it was incomplete. Genome-wide sharing between distantly related people puts heritability at at least 0.27, and eleven loci passed genome-wide significance in a meta-analysis of more than twelve thousand cases. Environment matters; so does inheritance.
No. The best predictive models built on this data accounted for 6–7% of the variance in liability — informative about populations, useless about individuals. The one variant here that is different in kind, LRRK2 G2019S, raises risk substantially and still does not predict.
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