Variants conferring risk of atrial fibrillation on chromosome 4q25.
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
AuthorsGudbjartsson, Daniel F
Arnar, David O
Backman, Valgerdur M
Hardarson, Gudmundur A
Sverrisson, Jon T
Ng, Maggie C Y
So, Wing Yee
Wong, Ka Sing
Chan, Juliana C N
Furie, Karen L
Greenberg, Steven M
MacRae, Calum A
Smith, Eric E
Ma, Ronald C W
Ellinor, Patrick T
Gulcher, Jeffrey R
MetadataShow full item record
CitationNature 2007, 448(7151):353-7
AbstractAtrial fibrillation (AF) is the most common sustained cardiac arrhythmia in humans and is characterized by chaotic electrical activity of the atria. It affects one in ten individuals over the age of 80 years, causes significant morbidity and is an independent predictor of mortality. Recent studies have provided evidence of a genetic contribution to AF. Mutations in potassium-channel genes have been associated with familial AF but account for only a small fraction of all cases of AF. We have performed a genome-wide association scan, followed by replication studies in three populations of European descent and a Chinese population from Hong Kong and find a strong association between two sequence variants on chromosome 4q25 and AF. Here we show that about 35% of individuals of European descent have at least one of the variants and that the risk of AF increases by 1.72 and 1.39 per copy. The association with the stronger variant is replicated in the Chinese population, where it is carried by 75% of individuals and the risk of AF is increased by 1.42 per copy. A stronger association was observed in individuals with typical atrial flutter. Both variants are adjacent to PITX2, which is known to have a critical function in left-right asymmetry of the heart.
DescriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Link field
- Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese.
- Authors: Lubitz SA, Lunetta KL, Lin H, Arking DE, Trompet S, Li G, Krijthe BP, Chasman DI, Barnard J, Kleber ME, Dörr M, Ozaki K, Smith AV, Müller-Nurasyid M, Walter S, Agarwal SK, Bis JC, Brody JA, Chen LY, Everett BM, Ford I, Franco OH, Harris TB, Hofman A, Kääb S, Mahida S, Kathiresan S, Kubo M, Launer LJ, MacFarlane PW, Magnani JW, McKnight B, McManus DD, Peters A, Psaty BM, Rose LM, Rotter JI, Silbernagel G, Smith JD, Sotoodehnia N, Stott DJ, Taylor KD, Tomaschitz A, Tsunoda T, Uitterlinden AG, Van Wagoner DR, Völker U, Völzke H, Murabito JM, Sinner MF, Gudnason V, Felix SB, März W, Chung M, Albert CM, Stricker BH, Tanaka T, Heckbert SR, Jukema JW, Alonso A, Benjamin EJ, Ellinor PT
- Issue date: 2014 Apr 1
- Atrial Fibrillation associated chromosome 4q25 variants are not associated with PITX2c expression in human adult left atrial appendages.
- Authors: Gore-Panter SR, Hsu J, Hanna P, Gillinov AM, Pettersson G, Newton DW, Moravec CS, Van Wagoner DR, Chung MK, Barnard J, Smith JD
- Issue date: 2014
- Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation.
- Authors: Ritchie MD, Rowan S, Kucera G, Stubblefield T, Blair M, Carter S, Roden DM, Darbar D
- Issue date: 2012 Sep 25
- Independent susceptibility markers for atrial fibrillation on chromosome 4q25.
- Authors: Lubitz SA, Sinner MF, Lunetta KL, Makino S, Pfeufer A, Rahman R, Veltman CE, Barnard J, Bis JC, Danik SP, Sonni A, Shea MA, Del Monte F, Perz S, Müller M, Peters A, Greenberg SM, Furie KL, van Noord C, Boerwinkle E, Stricker BH, Witteman J, Smith JD, Chung MK, Heckbert SR, Benjamin EJ, Rosand J, Arking DE, Alonso A, Kääb S, Ellinor PT
- Issue date: 2010 Sep 7
- Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation.
- Authors: Kääb S, Darbar D, van Noord C, Dupuis J, Pfeufer A, Newton-Cheh C, Schnabel R, Makino S, Sinner MF, Kannankeril PJ, Beckmann BM, Choudry S, Donahue BS, Heeringa J, Perz S, Lunetta KL, Larson MG, Levy D, MacRae CA, Ruskin JN, Wacker A, Schömig A, Wichmann HE, Steinbeck G, Meitinger T, Uitterlinden AG, Witteman JC, Roden DM, Benjamin EJ, Ellinor PT
- Issue date: 2009 Apr