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Cerebral small vessel disease

PPTC7 · rs73191849

Where this position leads

Condition: Cerebral Small Vessel Disease

rs73191849 Condition: Cerebral Small Vessel Disease Cerebral Small Vessel Disease Condition rs73191849 rs73191849 PPTC7

What the study found

Who was studied 19,721 European ancestry individuals.

The effect Each copy of the C allele carried 1.42 times the odds of Cerebral small vessel disease (95% confidence interval 1.25-1.61); p = 5 × 10−8.

How common The C allele had a frequency of about 94% in the people studied.

Where it sits Chromosome 12, band 12q24.11 — in an intron of PPTC7.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Cerebral small vessel disease compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Cerebral small vessel disease.
T/T Published research associates this genotype with typical/baseline likelihood of Cerebral small vessel disease — no copies of the reported risk allele.
Source
Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate
Mishra A, Duplaà C, Vojinovic D, Suzuki H, Sargurupremraj M, Sargurupremraj M, Zilhão NR, Li S, Bartz TM, Jian X, Zhao W, Hofer E
and 56 more — show all
Wittfeld K, Harris SE, van der Auwera-Palitschka S, Luciano M, Bis JC, Adams HHH, Satizabal CL, Gottesman RF, Gampawar PG, Bülow R, Weiss S, Yu M, Bastin ME, Lopez OL, Vernooij MW, Beiser AS, Völker U, Kacprowski T, Soumare A, Smith JA, Knopman DS, Morris Z, Zhu Y, Rotter JI, Dufouil C, Valdés Hernández M, Muñoz Maniega S, Lathrop M, Boerwinkle E, Schmidt R, Ihara M, Mazoyer B, Yang Q, Joutel A, Tournier-Lasserve E, Launer LJ, Deary IJ, Mosley TH, Amouyel P, DeCarli CS, Psaty BM, Tzourio C, Kardia SLR, Grabe HJ, Teumer A, van Duijn CM, Schmidt H, Wardlaw JM, Ikram MA, Fornage M, Gudnason V, Seshadri S, Matthews PM, Longstreth WT, Couffinhal T, Debette S
Brain : a journal of neurology · 2022 · PMID 35511193 · open access

Questions about rs73191849

What is rs73191849?

rs73191849 is a single position in the genome, in or near the PPTC7 gene. Published research associates it with cerebral small vessel disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs73191849 linked to?

On MyGeneLog this position is linked to Cerebral Small Vessel Disease. The research behind each link, and its sources, are set out on that condition page.

Does having rs73191849 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs73191849 come from?

GWAS Catalog, Brain : a journal of neurology 2022, PMID:35511193. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Cerebral small vessel disease (rs73191849). MyGeneLog™. https://www.mygenelog.com/variants/rs73191849

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