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Abdominal aortic aneurysm

CTAGE1 · rs4401144

Where this position leads

Condition: Abdominal Aortic Aneurysm

rs4401144 Condition: Abdominal Aortic Aneurysm Abdominal Aortic Aneurysm Condition rs4401144 rs4401144 CTAGE1

What the study found

Who was studied 7,642 European ancestry cases, 172,172 European ancestry controls; replicated in 4,972 European ancestry cases, 99,858 European ancestry controls.

The effect Each copy of the T allele carried 1.11 times the odds of Abdominal aortic aneurysm (95% confidence interval 1.08-1.14); p = 4 × 10−14.

How common The T allele had a frequency of about 48% in the people studied.

Where it sits Chromosome 18, band 18q11.2 — in an intron of RBBP8-AS1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Abdominal aortic aneurysm — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Abdominal aortic aneurysm.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Abdominal aortic aneurysm compared to the general population.
Source
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program
Klarin D, Verma SS, Judy R, Dikilitas O, Wolford BN, Paranjpe I, Levin MG, Pan C, Tcheandjieu C, Spin JM, Lynch J, Assimes TL
and 41 more — show all
Åldstedt Nyrønning L, Mattsson E, Edwards TL, Denny J, Larson E, Lee MTM, Carrell D, Zhang Y, Jarvik GP, Gharavi AG, Harley J, Mentch F, Pacheco JA, Hakonarson H, Skogholt AH, Thomas L, Gabrielsen ME, Hveem K, Nielsen JB, Zhou W, Fritsche L, Huang J, Natarajan P, Sun YV, DuVall SL, Rader DJ, Cho K, Chang KM, Wilson PWF, O'Donnell CJ, Kathiresan S, Scali ST, Berceli SA, Willer C, Jones GT, Bown MJ, Nadkarni G, Kullo IJ, Ritchie M, Damrauer SM, Tsao PS
Veterans Affairs Million Veteran Program†
Circulation · 2020 · PMID 32981348 · open access

Questions about rs4401144

What is rs4401144?

rs4401144 is a single position in the genome, in or near the CTAGE1 gene. Published research associates it with abdominal aortic aneurysm. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4401144 linked to?

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

Does having rs4401144 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 rs4401144 come from?

GWAS Catalog, Circulation 2020, PMID:32981348. 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.

Abdominal aortic aneurysm (rs4401144). MyGeneLog™. https://www.mygenelog.com/variants/rs4401144

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