Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.

Abstract:

:Genetic variations in cardiac ion channels have been implicated not only as the causes of inherited arrhythmic syndromes, but also as genetic risk factors for some acquired arrhythmias. To elucidate the potential roles of genetic polymorphisms of the alpha subunit of the voltage-gated sodium channel type V (SCN5A) in cardiac rhythm disturbance, the entire SCN5A coding exons and their flanking introns were sequenced in 166 Japanese arrhythmic patients and 232 healthy controls. We detected 69 genetic variations, including 54 novel ones. Out of the 12 novel nonsynonymous single nucleotide polymorphisms (SNPs), p.Leu1988Arg was found at a frequency of 0.015. The other 11 SNPs were rare (0.001), with 6 found in arrhythmic patients and 5 in healthy controls. The frequency of a novel intronic SNP, c.703+130G>A, was significantly higher in the patients than in the controls, suggesting this SNP is associated with an unknown risk factor for arrhythmia. Following linkage disequilibrium analysis, the haplotype structure of SCN5A was inferred using high-frequency SNPs. The frequency of the haplotype harbouring both p.Leu1988Arg and the common SNP p.His558Arg (haplotype GG) was significantly lower in the patients than in the controls. This finding suggests that this haplotype (GG) might have been positively selected in the controls because of its protective effect against arrhythmias. This study provides fundamental information necessary to elucidate the effect of genetic variations in SCN5A on channel function and cardiac rhythm in Japanese, and probably in the Asian population.

journal_name

Ann Hum Genet

journal_title

Annals of human genetics

authors

Maekawa K,Saito Y,Ozawa S,Adachi-Akahane S,Kawamoto M,Komamura K,Shimizu W,Ueno K,Kamakura S,Kamatani N,Kitakaze M,Sawada J

doi

10.1046/j.1529-8817.2005.00167.x

subject

Has Abstract

pub_date

2005-07-01 00:00:00

pages

413-28

issue

Pt 4

eissn

0003-4800

issn

1469-1809

pii

AHG167

journal_volume

69

pub_type

杂志文章
  • Analysis of genetic variation in two human thyroxine-binding plasma proteins by immunodetection after isoelectric focusing.

    abstract::An immunological method for the detection of two thyroxine-binding plasma proteins, thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post-translational glycosyla...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1985.tb01701.x

    authors: Whitehouse DB,Hopkinson DA,Hill AV,Bowden DK

    更新日期:1985-10-01 00:00:00

  • PTPN22 gene polymorphism (C1858T) is associated with susceptibility to type 1 diabetes: a meta-analysis of 19,495 cases and 25,341 controls.

    abstract::The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be associated with susceptibility to type 1 diabetes (T1D) in relatively small sample sizes. This study aimed at investigating the pooled association by carrying out a meta-analysis on the published studies. The Medline, EBSCO,...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/ahg.12016

    authors: Xuan C,Lun LM,Zhao JX,Wang HW,Zhu BZ,Yu S,Liu Z,He GW

    更新日期:2013-05-01 00:00:00

  • Case-control association tests correcting for population stratification.

    abstract::In case-control association studies unobserved population stratification may act as a confounder, leading to an increased number of false positive results. Methods accounting for population structure by using additional genetic markers broadly follow one of two concepts: Genomic Control (GC) and Structured Association...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1529-8817.2005.00214.x

    authors: Köhler K,Bickeböller H

    更新日期:2006-01-01 00:00:00

  • A marginal likelihood model for family-based data.

    abstract::This paper presents a marginal likelihood model for family-based data based upon the transmission of marker alleles from each heterozygous parent to his/her affected children. The proposed model, extending the maximum-likelihood-binomial (MLB) method and the disequilibrium maximum-likelihood-binomial (DMLB) method (Ab...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1469-1809.2003.00032.x

    authors: Lo SH,Liu X,Shao Y

    更新日期:2003-07-01 00:00:00

  • Correlated odour threshold bimodality of two out of three synthetic musks.

    abstract::The odour threshold bimodality for exaltolide described by Whissell-Buechy & Amoore (1973) among American whites is confirmed for a population sample in London. A highly correlated bimodality presumed to be caused by the absence of inactivity of certain receptor sites is shown to exist for another structurally differe...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1975.tb00639.x

    authors: Kalmus H,Seedburgh D

    更新日期:1975-05-01 00:00:00

  • X-linkage and genetic heterogeneity in bipolar-related major affective illness: reanalysis of linkage data.

    abstract::It has been suggested that an X-linked dominant allele operates in the genetic transmission of bipolar (manic-depressive) illness. Linkage studies with X-chromosome markers have remained inconclusive, showing both positive and negative results. Some of the ambiguity may be attributed to imprecise analytic methods and ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1982.tb00706.x

    authors: Risch N,Baron M

    更新日期:1982-05-01 00:00:00

  • Adenylate kinases in man: evidence for a third locus.

    abstract::The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1976.tb00134.x

    authors: Wilson DE,Povey S,Harris H

    更新日期:1976-01-01 00:00:00

  • Assignment of the human cardiac/slow skeletal muscle troponin C gene (TNNC1) between D3S3118 and GCT4B10 on the short arm of chromosome 3 by somatic cell hybrid analysis.

    abstract::We have determined the chromosomal location of the human cardiac/slow skeletal muscle troponin C gene (TNNC1) to the short arm of chromosome 3 using somatic cell hybrids. PCR-based analysis of a 'monochromosomal' hybrid panel identified the presence of the TNNC1 gene on human chromosome 3 and subsequent analysis of th...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1469-1809.1997.6140375.x

    authors: Townsend PJ,Yacoub MH,Barton PJ

    更新日期:1997-07-01 00:00:00

  • G-protein beta-3 subunit C825T polymorphism, sodium and arterial blood pressure: a community-based study of Japanese men and women.

    abstract::Epidemiological evidence on gene-environment effects of the G-protein beta-3 subunit C825T polymorphisms and sodium on blood pressure in the free-living general population is limited. We examined the associations between the C825T polymorphism and blood pressure levels, stratified by the sodium variables estimated by ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2006.00276.x

    authors: Yamagishi K,Tanigawa T,Cui R,Tabata M,Ikeda A,Yao M,Shimamoto T,Iso H

    更新日期:2006-11-01 00:00:00

  • Alpha1 antitrypsin phenotypes in Northern Ireland.

    abstract::Serum alpha1 antitrypsin levels and phenotypes were examined in 1000 healthy adults in Northern Ireland. The Pi phenotype M accounted for 87-8% Pi MS for 7-3% and Pi MZ for 3-5%. The percentages of the rarer phenotypes were Pi FM 0-3, Pi IM 0-6, Pi SZ 0-4 and Pi Z--0-1. The range of alpha1 antitrypsin levels in differ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1975.tb00612.x

    authors: Blundell G,Frazer A

    更新日期:1975-01-01 00:00:00

  • Association of CTLA-4 polymorphisms with increased risks of myasthenia gravis.

    abstract::Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/ahg.12262

    authors: Li F,Yuan W,Wu X

    更新日期:2018-11-01 00:00:00

  • An algorithm for Monte Carlo estimation of genotype probabilities on complex pedigrees.

    abstract::Exact probability and likelihood computation on complex pedigrees is often infeasible, since exact methods are too computationally intensive even with today's computing technology. A statistical tool, Markov chain Monte Carlo (MCMC), is increasingly being explored as a technique for estimating probabilities of genotyp...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1994.tb00731.x

    authors: Lin S,Thompson E,Wijsman E

    更新日期:1994-10-01 00:00:00

  • Search for multifactorial disease susceptibility genes in founder populations.

    abstract::The current challenge in biomedical research is to detect genetic risk factors involved in common complex diseases. The power to detect their role is generally poor in populations that have been large for a long time. It has been suggested that the power may be increased by taking advantage of the specificity of found...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1469-1809.2000.6430255.x

    authors: Bourgain C,Genin E,Quesneville H,Clerget-Darpoux F

    更新日期:2000-05-01 00:00:00

  • Common variants in KCNQ1 confer increased risk of type 2 diabetes and contribute to the diabetic epidemic in East Asians: a replication and meta-analysis.

    abstract::We aimed to evaluate the effect of four common variants (rs2237892, rs2283228, rs2237895, and rs2237897) in KCNQ1 on susceptibility of type 2 diabetes (T2D) by performing a case-control study as well as a comprehensive meta-analysis. We genotyped these four variants in two sets of Chinese Han population, comprising a ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/ahg.12029

    authors: Wang H,Miao K,Zhao J,Liu L,Cui G,Chen C,Wang DW,Ding H

    更新日期:2013-09-01 00:00:00

  • A note on assortative mating, linkage and genotypic frequencies.

    abstract::It is shown that in the equilibrium position with respect to the assortative mating process given by Fisher's (1918) model, the population is in linkage disequilibrium, contrary to a result given by Vetta (1975). ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1978.tb00937.x

    authors: Wilson SR

    更新日期:1978-07-01 00:00:00

  • Origin of triploidy in spontaneous abortuses.

    abstract::Fourteen triploid spontaneous abortuses were studied cytogenetically by sequential Q and C banding and the marker chromosomes were compared with those of the parents. The abortuses comprised all triploid cases in a series of 288 consecutive abortuses of the first 16 weeks of pregnancy occurring in one hospital. In 12 ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1979.tb01542.x

    authors: Lauritsen JG,Bolund L,Friedrich U,Therkelsen AJ

    更新日期:1979-07-01 00:00:00

  • Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.

    abstract:INTRODUCTION:Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagno...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/ahg.12397

    authors: Alsubaie L,Aloraini T,Amoudi M,Swaid A,Eyiad W,Al Mutairi F,Ababneh F,Alrifai MT,Baarmah D,Altwaijri W,Alotaibi N,Harthi A,Rumayyan A,Alanazi A,Qrimli M,Alfadhel M,Alfares A

    更新日期:2020-11-01 00:00:00

  • A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.

    abstract::Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autis...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2009.00523.x

    authors: Ma D,Salyakina D,Jaworski JM,Konidari I,Whitehead PL,Andersen AN,Hoffman JD,Slifer SH,Hedges DJ,Cukier HN,Griswold AJ,McCauley JL,Beecham GW,Wright HH,Abramson RK,Martin ER,Hussman JP,Gilbert JR,Cuccaro ML,Haines JL

    更新日期:2009-05-01 00:00:00

  • Comparison of statistical power between 2 * 2 allele frequency and allele positivity tables in case-control studies of complex disease genes.

    abstract::In case-control studies of complex disease genes, allele frequencies or allele positivities at candidate loci or markers are compared between cases and controls. Although 2 x 2 contingency tables based on allele frequency and allele positivity are generally used to perform simple statistical tests (e.g. a comparison o...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1017/s000348000100851x

    authors: Ohashi J,Yamamoto S,Tsuchiya N,Hatta Y,Komata T,Matsushita M,Tokunaga K

    更新日期:2001-03-01 00:00:00

  • Surnames, HLA genes and ancient migrations in the Po Valley (Italy).

    abstract::Population samples from Liguria, Piacenza and Pavia provinces, and North Lombardy are compared for surnames and HLA gene frequencies. The genetic structure inferred from the principal coordinate analysis of surname frequencies is different from that inferred from HLA gene frequencies. The latter may represent ancient ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1469-1809.1998.6230261.x

    authors: Guglielmino CR,De Silvestri A,Rossi A,De Micheli V

    更新日期:1998-05-01 00:00:00

  • Similarities in anthropometrical traits of children and their parents in a Bulgarian population.

    abstract::A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1996.tb01618.x

    authors: Nikolova M

    更新日期:1996-11-01 00:00:00

  • Loci contributing to adult height and body mass index in African American families ascertained for type 2 diabetes.

    abstract::Height and body mass index (BMI) have high heritability in most studies. High BMI and reduced height are well-recognized as important risk factors for a number of cardiovascular diseases. We investigated these phenotypes in African American families originally ascertained for studies of linkage with type 2 diabetes us...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1529-8817.2005.00176.x

    authors: Sale MM,Freedman BI,Hicks PJ,Williams AH,Langefeld CD,Gallagher CJ,Bowden DW,Rich SS

    更新日期:2005-09-01 00:00:00

  • Genetic heterogeneity of Icelanders.

    abstract::Recently statements have been made about a special 'genetic homogeneity' of the Icelanders that are at variance with earlier work on blood groups and allozymes. To validate these claims an extensive reanalysis was undertaken of mtDNA variation by examining primary data from original sources on 26 European populations....

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1469-1809.2003.00003.x

    authors: Arnason E

    更新日期:2003-01-01 00:00:00

  • The expected power of genome-wide linkage disequilibrium testing using single nucleotide polymorphism markers for detecting a low-frequency disease variant.

    abstract::The expected power of genome-wide linkage disequilibrium (LD) testing for a low-frequency disease variant was examined using a simple genetic model in which the degree of LD between the disease variant and the adjacent single nucleotide polymorphism (SNP) marker decreases in proportion to the number of generations sin...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1017/S0003480002001197

    authors: Ohashi J,Tokunaga K

    更新日期:2002-07-01 00:00:00

  • Evidence for a human mitotic mutant with pleiotropic effect.

    abstract::Male and female sibs born to third-cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb-girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15-20% of the cells and trisomies for...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1989.tb01791.x

    authors: Papi L,Montali E,Marconi G,Guazzelli R,Bigozzi U,Maraschio P,Zuffardi O

    更新日期:1989-07-01 00:00:00

  • Interrelationship and familiality of dyslexia related quantitative measures.

    abstract::Dyslexia is a complex gene-environment disorder with poorly understood etiology that affects about 5% of school-age children. Dyslexia occurs in all languages and is associated with a high level of social and psychological morbidity for the individual and their family; approximately 40-50% have persistent disability i...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1469-1809.2006.00312.x

    authors: Schulte-Körne G,Ziegler A,Deimel W,Schumacher J,Plume E,Bachmann C,Kleensang A,Propping P,Nöthen MM,Warnke A,Remschmidt H,König IR

    更新日期:2007-03-01 00:00:00

  • Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.

    abstract::The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric disorders. Dopamine transporter deficiency syndrome (DTDS) is a complex...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/ahg.12378

    authors: Heidari E,Razmara E,Hosseinpour S,Tavasoli AR,Garshasbi M

    更新日期:2020-07-01 00:00:00

  • Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.

    abstract::Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies implicated several genes as PD risk loci with strong, but not ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2009.00560.x

    authors: Edwards TL,Scott WK,Almonte C,Burt A,Powell EH,Beecham GW,Wang L,Züchner S,Konidari I,Wang G,Singer C,Nahab F,Scott B,Stajich JM,Pericak-Vance M,Haines J,Vance JM,Martin ER

    更新日期:2010-03-01 00:00:00

  • Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking.

    abstract::The CATHGEN study reported associations of chromosome 3q13-21 genes (KALRN, MYLK, CDGAP, and GATA2) with early-onset coronary artery disease (CAD). This study attempted to independently validate those associations. Eleven single nucleotide polymorphisms (SNPs) were examined (rs10934490, rs16834817, rs6810298, rs928923...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2009.00540.x

    authors: Horne BD,Hauser ER,Wang L,Muhlestein JB,Anderson JL,Carlquist JF,Shah SH,Kraus WE

    更新日期:2009-11-01 00:00:00

  • The population genetics of familial mediterranean fever: a meta-analysis study.

    abstract::Our aim was to construct a Familial Mediterranean Fever (FMF) cumulative database and to propose a MEFV based phylogenetic tree. Data were collected from published studies. A meta-analysis based on 16,756 chromosomes from FMF patients and normal individuals from 14 affected populations was performed. Arlequin 2.0 and ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/j.1469-1809.2008.00471.x

    authors: Papadopoulos VP,Giaglis S,Mitroulis I,Ritis K

    更新日期:2008-11-01 00:00:00