High prevalence of four long QT syndrome founder mutations in the Finnish population

Annukka Marjamaa, Veikko Salomaa, Christopher Newton-Cheh, Kimmo Porthan, Antti Reunanen, Hannu Karanko, Antti Jula, Päivi Lahermo, Heikki Väänänen, Lauri Toivonen, Heikki Swan, Matti Viitasalo, Markku S Nieminen, Leena Peltonen, Lasse Oikarinen, Aarno Palotie, Kimmo Kontula

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

Abstrakti

Aims. Long QT syndrome (LQTS) is an inherited arrhythmia disorder with an estimated prevalence of 0.01%-0.05%. In Finland, four founder mutations constitute up to 70% of the known genetic spectrum of LQTS. In the present survey, we sought to estimate the actual prevalence of the founder mutations and to determine their effect sizes in the general Finnish population. Methods and results. We genotyped 6334 subjects aged30 years from a population cohort (Health 2000 study) for the four Finnish founder mutations using Sequenom MALDI-TOF mass spectrometry. The electrocardiogram (ECG) parameters were measured from digital 12-lead ECGs, and QT intervals were adjusted for age, sex, and heart rate using linear regression. A total of 27 individuals carried one of the founder mutations resulting in their collective prevalence estimate of 0.4% (95% CI 0.3%-0.6%). The KCNQ1 G589D mutation (n=8) was associated with a 50 ms (SE 7.0) prolongation of the adjusted QT interval (P=9.010-13). The KCNH2 R176W variant (n=16) resulted in a 22 ms (SE 4.7) longer adjusted QT interval (P=2.110-6). Conclusion. In Finland 1 individual out of 250 carries a LQTS founder mutation, which is the highest documented prevalence of LQTS mutations that lead to a marked QT prolongation.
Alkuperäiskielienglanti
LehtiAnnals of Medicine
Vuosikerta41
Numero3
Sivut234-240
Sivumäärä7
ISSN0785-3890
DOI - pysyväislinkit
TilaJulkaistu - 2009
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

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