Abstract:
:As a transcription factor mainly expressed in cardiovascular system, T-box 20 (TBX20) plays an important role in embryonic cardiovascular system development and adult heart function. Previous studies have identified associations of two SNPs in the T-box DNA-binding domain of TBX20 with congenital heart disease (CHD) in two Caucasian families, but the associations of TBX20 mutations underlying the more common populations with CHD remain to be uncovered. In this study, 25 unrelated Chinese Han neonates with CHD and 25 healthy children as controls were investigated for TBX20 mutations. SNP genotyping was performed by PCR-DNA sequencing. The selected SNPs were well genotyped and SNP rs3999941 was found to be strongly associated with CHD (p = 0.007). The minor allele of rs3999941 showed a high-risk factor for CHD (OR 4.24; 95 % CI 1.41-12.71). Besides, we found a new SNP site located at the 657th nucleotide of the exon 5 of TBX20 gene which may also be associated with CHD, c.657A>C. The frequency was significantly different between two groups (p = 0.011), the minor allele of SNP c.657A>C also showed a risk factor for CHD (OR 2.56; 95 % CI 1.02-6.46). These findings suggested that the TC genotype of SNP rs3999941 and AC genotype of the new SNP c.657A>C in the TBX20 gene may be risk factors for CHD and thus screening of these SNPs may have some implications in the prevention and treatment of CHD in Han Chinese children.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Chen J,Sun F,Fu J,Zhang Hdoi
10.1007/s00246-014-1073-5subject
Has Abstractpub_date
2015-04-01 00:00:00pages
737-42issue
4eissn
0172-0643issn
1432-1971journal_volume
36pub_type
杂志文章abstract::The development of Leadless cardiac pacemakers avoids the inherent complications that may occur secondary to lead insertion. A large number of devices have been inserted in adult patients although data in pediatric patients are lacking. We aimed to assess our experience with the Leadless device in the pediatric popula...
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journal_title:Pediatric cardiology
pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:Pediatric cardiology
pub_type: 杂志文章
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
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