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Platelet count

ITPK1 · rs8006385

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 2 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 38,891 European ancestry individuals, 1,661 Val Borbera (founder/genetic isolate) individuals, 521 Carlantino (founder/genetic isolate) individuals, 1,198 Friuli Venezia Giulia (founder/genetic isolate) individuals, 1,213 South Tyrolean (founder/genetic isolate) individuals, 890 Sorbian (founder/genetic isolate) individuals, 4,292 Sardinian (founder/genetic isolate) individuals; replicated in Up to 16,949 European ancestry individuals, 854 Cliento (founder/genetic isolate) individuals, 1,035 Talana (founder/genetic isolate) individuals.

The effect Each copy of the G allele shifted the measure 3.59 10^9/l higher (95% confidence interval 2.49-4.68); p = 1 × 10−10.

Where it sits Chromosome 14, band 14q32.12 — in an intron of ITPK1.

How common each version is

AG
Korean KRGDB
A 92.7% · G 7.3%
Korean Korea4K
A 92.8% · G 7.2%
Japanese ToMMo
A 93.5% · G 6.5%
Vietnamese
A 92.5% · G 7.5%
World gnomAD
A 86.8% · G 13.2%
World 1000 Genomes
A 84.6% · G 15.4%
World TOPMed
A 86.9% · G 13.1%

By ancestry gnomAD

East Asian
A 92.2% · G 7.8%
European (non-Finnish)
A 88.8% · G 11.2%
African / African American
A 82.8% · G 17.2%
South Asian
A 73.9% · G 26.1%
Admixed American (Latino)
A 89.2% · G 10.8%
Middle Eastern
A 82.0% · G 18.0%
Finnish
A 90.3% · G 9.7%
Ashkenazi Jewish
A 85.6% · G 14.4%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to Platelet count. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Platelet count. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Platelet count. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
New gene functions in megakaryopoiesis and platelet formation
Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mägi R
and 151 more — show all
Meacham S, Okada Y, Pirastu N, Sorice R, Teumer A, Voss K, Zhang W, Ramirez-Solis R, Bis JC, Ellinghaus D, Gögele M, Hottenga JJ, Langenberg C, Kovacs P, O'Reilly PF, Shin SY, Esko T, Hartiala J, Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, Ellen van der Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S, Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers JC, Cucca F, D'Adamo P, Davies G, de Boer RA, de Geus EJ, Döring A, Elliott P, Erdmann J, Evans DM, Falchi M, Feng W, Folsom AR, Frazer IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR, Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT, Kühnel B, Kyrtsonis MC, Lagou V, Lloyd-Jones H, Lumley T, Mangino M, Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD, Montgomery GW, Nakamura Y, Nauck M, Navis G, Nöthlings U, Nolte IM, Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI, Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr JM, Stumvoll M, Takahashi A, Tang WH, Taylor K, Tenesa A, Lay Thein S, Tönjes A, Uda M, Ulivi S, van Veldhuisen DJ, Visscher PM, Völker U, Wichmann HE, Wiggins KL, Willemsen G, Yang TP, Hua Zhao J, Zitting P, Bradley JR, Dedoussis GV, Gasparini P, Hazen SL, Metspalu A, Pirastu M, Shuldiner AR, Joost van Pelt L, Zwaginga JJ, Boomsma DI, Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR, Martin NG, Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman JW, Ciullo M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake J, Kooner JS, Penninger J, Prokopenko I, Stemple D, Toniolo D, Wernisch L, Sanna S, Hicks AA, Rendon A, Ferreira MA, Ouwehand WH, Soranzo N
Nature · 2011 · PMID 22139419

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Platelet count (rs8006385). MyGeneLog™. https://www.mygenelog.com/variants/rs8006385

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