Sensitive

Coronary artery disease

COL4A1 · rs11838776

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 = 10⁻¹⁸, with 6 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 42,096 European ancestry cases, 361 African American cases, 758 Hispanic American cases, 12,658 South Asian ancestry cases, 1,802 Lebanese ancestry cases, 3,614 East Asian ancestry cases, 99,121 European ancestry controls, 2,778 African American controls, 3,337 Hispanic American controls, 12,899 South Asian ancestry controls, 466 Lebanese ancestry controls, 7,709 East Asian ancestry controls.

The effect Each copy of the A allele carried 1.07 times the odds of Coronary artery disease (95% confidence interval 1.05- 1.09); p = 1 × 10⁻¹⁰.

How common The A allele had a frequency of about 26% in the people studied.

Where it sits Chromosome 13, band 13q34 — in an intron of COL4A2.

How common each version is

AG

Korean KRGDB

A 7.3% · G 92.7%

Korean Korea4K

A 7.0% · G 93.0%

Korean Korea1K

A 7.3% · G 92.7%

Japanese ToMMo

A 8.2% · G 91.8%

Vietnamese

A 19.4% · G 80.6%

World gnomAD

A 25.5% · G 74.5%

World 1000 Genomes

A 21.5% · G 78.5%

World TOPMed

A 25.0% · G 75.0%

By ancestry gnomAD

East Asian

A 10.0% · G 90.0%

European (non-Finnish)

A 28.7% · G 71.3%

African / African American

A 23.9% · G 76.1%

South Asian

A 19.9% · G 80.1%

Admixed American (Latino)

A 21.3% · G 78.7%

Middle Eastern

A 29.6% · G 70.4%

Finnish

A 23.9% · G 76.1%

Ashkenazi Jewish

A 34.8% · G 65.2%

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 Coronary artery disease. 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 Coronary artery disease. That is a smaller link than two copies.

G/G No copy of the version the research linked to Coronary artery disease. This is the starting point the study compared everyone against.

Source

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease

Nikpay M, Goel A, Won HH, Hall LM, Willenborg C, Kanoni S, Saleheen D, Kyriakou T, Nelson CP, Hopewell JC, Webb TR, Zeng L

and 139 more — show all

Dehghan A, Alver M, Armasu SM, Auro K, Bjonnes A, Chasman DI, Chen S, Ford I, Franceschini N, Gieger C, Grace C, Gustafsson S, Huang J, Hwang SJ, Kim YK, Kleber ME, Lau KW, Lu X, Lu Y, Lyytikäinen LP, Mihailov E, Morrison AC, Pervjakova N, Qu L, Rose LM, Salfati E, Saxena R, Scholz M, Smith AV, Tikkanen E, Uitterlinden A, Yang X, Zhang W, Zhao W, de Andrade M, de Vries PS, van Zuydam NR, Anand SS, Bertram L, Beutner F, Dedoussis G, Frossard P, Gauguier D, Goodall AH, Gottesman O, Haber M, Han BG, Huang J, Jalilzadeh S, Kessler T, König IR, Lannfelt L, Lieb W, Lind L, Lindgren CM, Lokki ML, Magnusson PK, Mallick NH, Mehra N, Meitinger T, Memon FU, Morris AP, Nieminen MS, Pedersen NL, Peters A, Rallidis LS, Rasheed A, Samuel M, Shah SH, Sinisalo J, Stirrups KE, Trompet S, Wang L, Zaman KS, Ardissino D, Boerwinkle E, Borecki IB, Bottinger EP, Buring JE, Chambers JC, Collins R, Cupples LA, Danesh J, Demuth I, Elosua R, Epstein SE, Esko T, Feitosa MF, Franco OH, Franzosi MG, Granger CB, Gu D, Gudnason V, Hall AS, Hamsten A, Harris TB, Hazen SL, Hengstenberg C, Hofman A, Ingelsson E, Iribarren C, Jukema JW, Karhunen PJ, Kim BJ, Kooner JS, Kullo IJ, Lehtimäki T, Loos RJF, Melander O, Metspalu A, März W, Palmer CN, Perola M, Quertermous T, Rader DJ, Ridker PM, Ripatti S, Roberts R, Salomaa V, Sanghera DK, Schwartz SM, Seedorf U, Stewart AF, Stott DJ, Thiery J, Zalloua PA, O'Donnell CJ, Reilly MP, Assimes TL, Thompson JR, Erdmann J, Clarke R, Watkins H, Kathiresan S, McPherson R, Deloukas P, Schunkert H, Samani NJ, Farrall M

Nature genetics · 2015 · PMID 26343387 · open access

Quoting this page

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Coronary artery disease (rs11838776). MyGeneLog™. https://www.mygenelog.com/variants/rs11838776

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