Sensitive

Myocardial infarction (early onset)

CXCL12 · rs1746048

Where this position leads

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.

What the study found

Who was studied 2,967 European ancestry cases, 3,075 European ancestry controls; replicated in 9,746 European ancestry cases, 9,746 European ancestry controls.

The effect Each copy of the C allele carried 1.17 times the odds of Myocardial infarction (early onset) (95% confidence interval 1.11-1.24); p = 7 × 10⁻⁹.

How common The C allele had a frequency of about 84% in the people studied.

Where it sits Chromosome 10, band 10q11.21 — between genes, 11.9 kb from LINC02881.

What each result means

C/C Two copies of the version the research linked to Myocardial infarction (early onset). That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Myocardial infarction (early onset). That is a smaller link than two copies.

T/T No copy of the version the research linked to Myocardial infarction (early onset). This is the starting point the study compared everyone against.

Source

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP

and 174 more — show all

Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, O'Donnell CJ, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Melander O, Altshuler D, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Kathiresan S, Meigs JB, Williams G, Nathan DM, MacRae CA, O'Donnell CJ, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Voight BF, Kathiresan S, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Daly MJ, Purcell S, Voight BF, Purcell S, Nemesh J, Korn JM, McCarroll SA, Schwartz SM, Yee J, Kathiresan S, Lucas G, Subirana I, Elosua R, Surti A, Guiducci C, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, Samani NJ, Thompson JR, Braund PS, Wright BJ, Balmforth AJ, Ball SG, Hall A, Schunkert H, Erdmann J, Linsel-Nitschke P, Lieb W, Ziegler A, König I, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Schunkert H, Samani NJ, Erdmann J, Ouwehand W, Hengstenberg C, Deloukas P, Scholz M, Cambien F, Reilly MP, Li M, Chen Z, Wilensky R, Matthai W, Qasim A, Hakonarson HH, Devaney J, Burnett MS, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Knouff CW, Waterworth DM, Walker MC, Mooser V, Epstein SE, Rader DJ, Scheffold T, Berger K, Stoll M, Huge A, Girelli D, Martinelli N, Olivieri O, Corrocher R, Morgan T, Spertus JA, McKeown P, Patterson CC, Schunkert H, Erdmann E, Linsel-Nitschke P, Lieb W, Ziegler A, König IR, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Hólm H, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Engert JC, Do R, Xie C, Anand S, Kathiresan S, Ardissino D, Mannucci PM, Siscovick D, O'Donnell CJ, Samani NJ, Melander O, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Altshuler D

Myocardial Infarction Genetics Consortium · Wellcome Trust Case Control Consortium

Nature genetics · 2009 · PMID 19198609

What people read about alongside this

Heart and circulation8 Cholesterol and blood fats2 Blood sugar and insulin1 Alcohol and the flush1

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs1746048

What is rs1746048?

rs1746048 is a single position in the genome, in or near the CXCL12 gene. Published research associates it with myocardial infarction (early onset). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1746048 linked to?

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

What do people read about alongside rs1746048?

Subjects that appear in the title or abstract of the same papers as this rsID include heart and circulation (8 papers), cholesterol and blood fats (2 papers), blood sugar and insulin (1 papers), alcohol and the flush (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs1746048 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 rs1746048 come from?

GWAS Catalog, Nat Genet 2009, PMID:19198609. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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.

Myocardial infarction (early onset) (rs1746048). MyGeneLog™. https://www.mygenelog.com/variants/rs1746048

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