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  1. NTU Scholars
  2. 醫學院
  3. 醫學系
Please use this identifier to cite or link to this item: https://scholars.lib.ntu.edu.tw/handle/123456789/547837
Title: Association of the C677T methylenetetrahydrofolate reductase mutation with congenital heart diseases
Authors: CHIEN-NAN LEE 
Su Y.-N.
WEN-FANG CHENG 
MING-TAI LIN 
JOU-KOU WANG 
MEI-HWAN WU 
Hsieh F.-J.
Issue Date: 2005
Journal Volume: 84
Journal Issue: 12
Start page/Pages: 1134-1140
Source: Acta Obstetricia et Gynecologica Scandinavica
Abstract: 
Background. To investigate whether the cytosine-to-thymine mutation at base 677 of the gene for methylenetetrahydrofolate reductase (MTHFR) is associated with congenital heart diseases (CHD), using high throughput heteroduplex analysis based upon the powerful technique of denaturing high-performance liquid chromatography. Methods. We investigated the MTHFR genotype of a cytosine-to-thymine mutation at base 677 for 213 patients of CHDs as confirmed by cardiac catheterization and also for 195 healthy controls. Results. The overall genotype frequencies of the MTHFR C677T polymorphism were not significantly different between the CHD patients and the healthy control (P = 0.345). Furthermore, taking various subgroups of CHD patients into consideration, we noted a significantly increased proportion of homozygous TT genotypes for patients suffering from valvular pulmonary stenosis (PS) or pulmonary atresia with an intact ventricular septum (PA + IVS) (p = 0.0005). For patients revealing heterotaxy syndrome, a conotruncal anomaly including tetralogy of Fallot, an interruption of the aortic arch, persistent truncus arteriosus, and aortopulmonary window, no statistically significant difference existed. Conclusions. The discrepancy in the distribution of MTHFR genotypes amongst various subtypes of CHD reflects some heterogeneity in the developmental mechanism of CHD. The increased percentage of homozygous TT genotypes might contribute to the pathogenesis of valvular PS and PA + IVS. ? Acta Obstet Gynecol Scand 2005.
URI: https://www.scopus.com/inward/record.uri?eid=2-s2.0-28344454474&doi=10.1111%2fj.0001-6349.2005.00611.x&partnerID=40&md5=40c899af00f98c2befb5e380f249175e
https://scholars.lib.ntu.edu.tw/handle/123456789/547837
ISSN: 0001-6349
DOI: 10.1111/j.0001-6349.2005.00611.x
SDG/Keyword: 5,10 methylenetetrahydrofolate reductase (FADH2); cytosine; thymine; aortopulmonary septal defect; article; congenital heart disease; controlled study; DNA polymorphism; Fallot tetralogy; gene frequency; gene mutation; genetic association; genotype; heart catheterization; heterotaxy syndrome; high performance liquid chromatography; high throughput screening; homozygosity; human; lung atresia; major clinical study; priority journal; pulmonary valve stenosis; Asian Continental Ancestry Group; Case-Control Studies; Child; Chromatography, High Pressure Liquid; DNA Primers; Fetal Blood; Gene Frequency; Genetic Predisposition to Disease; Genotype; Heart Defects, Congenital; Humans; Infant, Newborn; Methylenetetrahydrofolate Reductase (NADPH2); Point Mutation; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Taiwan
[SDGs]SDG3
Appears in Collections:醫學系

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臺大位居世界頂尖大學之列,為永久珍藏及向國際展現本校豐碩的研究成果及學術能量,圖書館整合機構典藏(NTUR)與學術庫(AH)不同功能平台,成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。

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