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Abdominal aortic aneurysm

IL6R · rs12133641

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

2 / 4

Its strongest genetic-study result is p = 10⁻⁴⁶, with 19 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 4,972 European ancestry cases, 99,858 European ancestry controls; replicated in 2,482 European ancestry cases, 2,750 cases, 2,645 European ancestry controls, 5,263 controls.

The effect Each copy of the A allele carried 1.14 times the odds of Abdominal aortic aneurysm (95% confidence interval 1.10-1.18); p = 5 × 10⁻¹³.

Where it sits Chromosome 1, band 1q21.3 — in an intron of IL6R.

How common each version is

AG

Korean KRGDB

A 56.9% · G 43.1%

Korean Korea4K

A 58.3% · G 41.7%

Korean Korea1K

A 57.7% · G 42.3%

Japanese ToMMo

A 62.6% · G 37.4%

Vietnamese

A 73.1% · G 26.9%

World gnomAD

A 56.7% · G 43.3%

World 1000 Genomes

A 58.2% · G 41.8%

World TOPMed

A 53.8% · G 46.2%

By ancestry gnomAD

East Asian

A 64.1% · G 35.9%

European (non-Finnish)

A 60.6% · G 39.4%

African / African American

A 47.4% · G 52.6%

South Asian

A 70.8% · G 29.2%

Admixed American (Latino)

A 46.8% · G 53.2%

Middle Eastern

A 57.5% · G 42.5%

Finnish

A 72.3% · G 27.7%

Ashkenazi Jewish

A 58.9% · G 41.1%

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 Two copies of the version the research linked to Abdominal aortic aneurysm. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Abdominal aortic aneurysm. That is a smaller link than two copies.

G/G No copy of the version the research linked to Abdominal aortic aneurysm. This is the starting point the study compared everyone against.

Source

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

Jones GT, Tromp G, Kuivaniemi H, Gretarsdottir S, Baas AF, Giusti B, Strauss E, Van't Hof FN, Webb TR, Erdman R, Ritchie MD, Elmore JR

and 105 more — show all

Verma A, Pendergrass S, Kullo IJ, Ye Z, Peissig PL, Gottesman O, Verma SS, Malinowski J, Rasmussen-Torvik LJ, Borthwick KM, Smelser DT, Crosslin DR, de Andrade M, Ryer EJ, McCarty CA, Böttinger EP, Pacheco JA, Crawford DC, Carrell DS, Gerhard GS, Franklin DP, Carey DJ, Phillips VL, Williams MJ, Wei W, Blair R, Hill AA, Vasudevan TM, Lewis DR, Thomson IA, Krysa J, Hill GB, Roake J, Merriman TR, Oszkinis G, Galora S, Saracini C, Abbate R, Pulli R, Pratesi C, Saratzis A, Verissimo AR, Bumpstead S, Badger SA, Clough RE, Cockerill G, Hafez H, Scott DJ, Futers TS, Romaine SP, Bridge K, Griffin KJ, Bailey MA, Smith A, Thompson MM, van Bockxmeer FM, Matthiasson SE, Thorleifsson G, Thorsteinsdottir U, Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Lindholt JS, Hughes A, Bradley DT, Stirrups K, Golledge J, Norman PE, Powell JT, Humphries SE, Hamby SE, Goodall AH, Nelson CP, Sakalihasan N, Courtois A, Ferrell RE, Eriksson P, Folkersen L, Franco-Cereceda A, Eicher JD, Johnson AD, Betsholtz C, Ruusalepp A, Franzén O, Schadt EE, Björkegren JL, Lipovich L, Drolet AM, Verhoeven EL, Zeebregts CJ, Geelkerken RH, van Sambeek MR, van Sterkenburg SM, de Vries JP, Stefansson K, Thompson JR, de Bakker PI, Deloukas P, Sayers RD, Harrison SC, van Rij AM, Samani NJ, Bown MJ

Circulation research · 2017 · PMID 27899403 · open access

Quoting this page

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Abdominal aortic aneurysm (rs12133641). MyGeneLog™. https://www.mygenelog.com/variants/rs12133641

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