Gender and age effects on ventricular repolarization abnormality in Japanese general carriers of a G643S common single nucleotide polymorphism for the KCNQ1 gene

Tomoya Ozawa, Makoto Ito, Shinji Tamaki, Takenori Yao, Takashi Ashihara, Yoshikuni Kita, Tomonori Okamura, Hirotsugu Ueshima, Minoru Horie

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Background: The KCNQ1 single nucleotide polymorphism (SNP), G643S, is known to be associated with secondary long QT syndrome (LQTS) and to cause a mild reduction in KCNQ1 current. However, the precise incidence and its association with QT intervals remain unknown in the greater cohort of the population in Japan. Methods and Results: The genotype was screened at codon 643 of KCNQ1 in 992 residents of a farming community. Eighty-eight individuals (female/male=52/36, 8.9%) were found to have a heterozygous G643S SNP. Matching both gender and age, we randomly selected 243 control (G643G) cases and compared the electrocardiogram parameters in both groups; QT, QTf (QT corrected by Fridericia's formula) intervals, the peak and the end of the T wave (Tpe) interval, and the Tpe/QT ratio. The latter 2 reflect the transmural dispersion of ventricular repolarization (TDR). In G643S carriers, both Tpe and Tpe/QT were significantly longer than in noncarriers, without significant QT prolongation. Both genders showed a tendency for an increase in QTf with aging. In females, both Tpe and Tpe/QT showed a similar significant increase with age, which was not observed in males. Conclusions: In elderly females, G643S might be an independent risk factor for secondary LQTS by causing a greater TDR.

Original languageEnglish
Pages (from-to)645-650
Number of pages6
JournalCirculation Journal
Volume70
Issue number6
DOIs
Publication statusPublished - 2006
Externally publishedYes

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Single Nucleotide Polymorphism
Long QT Syndrome
Genes
Agriculture
Codon
Japan
Electrocardiography
Genotype
Incidence
Population

Keywords

  • Electrocardiography
  • KCNQ1
  • Secondary LQTS
  • Single nucleotide polymorphism
  • Transmural dispersion of repolarization

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology

Cite this

Gender and age effects on ventricular repolarization abnormality in Japanese general carriers of a G643S common single nucleotide polymorphism for the KCNQ1 gene. / Ozawa, Tomoya; Ito, Makoto; Tamaki, Shinji; Yao, Takenori; Ashihara, Takashi; Kita, Yoshikuni; Okamura, Tomonori; Ueshima, Hirotsugu; Horie, Minoru.

In: Circulation Journal, Vol. 70, No. 6, 2006, p. 645-650.

Research output: Contribution to journalArticle

Ozawa, Tomoya ; Ito, Makoto ; Tamaki, Shinji ; Yao, Takenori ; Ashihara, Takashi ; Kita, Yoshikuni ; Okamura, Tomonori ; Ueshima, Hirotsugu ; Horie, Minoru. / Gender and age effects on ventricular repolarization abnormality in Japanese general carriers of a G643S common single nucleotide polymorphism for the KCNQ1 gene. In: Circulation Journal. 2006 ; Vol. 70, No. 6. pp. 645-650.
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AU - Ozawa, Tomoya

AU - Ito, Makoto

AU - Tamaki, Shinji

AU - Yao, Takenori

AU - Ashihara, Takashi

AU - Kita, Yoshikuni

AU - Okamura, Tomonori

AU - Ueshima, Hirotsugu

AU - Horie, Minoru

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N2 - Background: The KCNQ1 single nucleotide polymorphism (SNP), G643S, is known to be associated with secondary long QT syndrome (LQTS) and to cause a mild reduction in KCNQ1 current. However, the precise incidence and its association with QT intervals remain unknown in the greater cohort of the population in Japan. Methods and Results: The genotype was screened at codon 643 of KCNQ1 in 992 residents of a farming community. Eighty-eight individuals (female/male=52/36, 8.9%) were found to have a heterozygous G643S SNP. Matching both gender and age, we randomly selected 243 control (G643G) cases and compared the electrocardiogram parameters in both groups; QT, QTf (QT corrected by Fridericia's formula) intervals, the peak and the end of the T wave (Tpe) interval, and the Tpe/QT ratio. The latter 2 reflect the transmural dispersion of ventricular repolarization (TDR). In G643S carriers, both Tpe and Tpe/QT were significantly longer than in noncarriers, without significant QT prolongation. Both genders showed a tendency for an increase in QTf with aging. In females, both Tpe and Tpe/QT showed a similar significant increase with age, which was not observed in males. Conclusions: In elderly females, G643S might be an independent risk factor for secondary LQTS by causing a greater TDR.

AB - Background: The KCNQ1 single nucleotide polymorphism (SNP), G643S, is known to be associated with secondary long QT syndrome (LQTS) and to cause a mild reduction in KCNQ1 current. However, the precise incidence and its association with QT intervals remain unknown in the greater cohort of the population in Japan. Methods and Results: The genotype was screened at codon 643 of KCNQ1 in 992 residents of a farming community. Eighty-eight individuals (female/male=52/36, 8.9%) were found to have a heterozygous G643S SNP. Matching both gender and age, we randomly selected 243 control (G643G) cases and compared the electrocardiogram parameters in both groups; QT, QTf (QT corrected by Fridericia's formula) intervals, the peak and the end of the T wave (Tpe) interval, and the Tpe/QT ratio. The latter 2 reflect the transmural dispersion of ventricular repolarization (TDR). In G643S carriers, both Tpe and Tpe/QT were significantly longer than in noncarriers, without significant QT prolongation. Both genders showed a tendency for an increase in QTf with aging. In females, both Tpe and Tpe/QT showed a similar significant increase with age, which was not observed in males. Conclusions: In elderly females, G643S might be an independent risk factor for secondary LQTS by causing a greater TDR.

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KW - Single nucleotide polymorphism

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