RGD Reference Report - Susceptibility to congenital heart defects associated with a polymorphism in TBX2 3' untranslated region in the Han Chinese population. - Rat Genome Database

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Susceptibility to congenital heart defects associated with a polymorphism in TBX2 3' untranslated region in the Han Chinese population.

Authors: Wang, Jie  Zhang, Ran-Ran  Cai, Ke  Yang, Qian  Duan, Wen-Yuan  Zhao, Jian-Yuan  Gui, Yong-Hao  Wang, Feng 
Citation: Wang J, etal., Pediatr Res. 2019 Feb;85(3):378-383. doi: 10.1038/s41390-018-0181-y. Epub 2018 Sep 18.
RGD ID: 401794414
Pubmed: PMID:30262811   (View Abstract at PubMed)
DOI: DOI:10.1038/s41390-018-0181-y   (Journal Full-text)


BACKGROUND: Tbx2 plays a critical role in determining fates of cardiomyocytes. Little is known about the contribution of TBX2 3' untranslated region (UTR) variants to the risk of congenital heart defect (CHD). Thus, we aimed to determine the association of single-nucleotide polymorphisms (SNPs) in TBX2 3' UTR with CHD susceptibility.
METHODS: We recruited 1285 controls and 1241 CHD children from China. SNPs identification and genotyping were detected using Sanger Sequencing and SNaPshot. Stratified analysis was conducted to explore the association between rs59382073 polymorphism and CHD subtypes. Functional analyses were performed by luciferase assays in HEK-293T and H9c2 cells.
RESULTS: Among five TBX2 3'UTR variants identified, rs59382073 minor allele T carriers had a 1.89-fold increased CHD risk compared to GG genotype (95% CI = 1.48-2.46, P = 4.48 × 10-7). The most probable subtypes were right ventricular outflow tract obstruction, conotruncal, and septal defect. G to T variation decreased luciferase activity in cells. This discrepancy was exaggerated by miR-3940 and miR-708, while their corresponding inhibitors eliminated it.
CONCLUSION: T allele of rs59382073 in TBX2 3'UTR contributed to greater CHD risk in the Han Chinese population. G to T variation created binding sites for miR-3940 and miR-708 to inhibit gene expression.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
TBX2HumanConotruncal Cardiac Defects susceptibilityIAGP DNA:SNP:3'UTR:rs59382073(human)RGD 
Tbx2RatConotruncal Cardiac Defects susceptibilityISOTBX2 (Homo sapiens)DNA:SNP:3'UTR:rs59382073(human)RGD 
Tbx2MouseConotruncal Cardiac Defects susceptibilityISOTBX2 (Homo sapiens)DNA:SNP:3'UTR:rs59382073(human)RGD 
TBX2Humanheart septal defect susceptibilityIAGP DNA:SNP:3'UTR:rs59382073(human)RGD 
Tbx2Ratheart septal defect susceptibilityISOTBX2 (Homo sapiens)DNA:SNP:3'UTR:rs59382073(human)RGD 
Tbx2Mouseheart septal defect susceptibilityISOTBX2 (Homo sapiens)DNA:SNP:3'UTR:rs59382073(human)RGD 
TBX2HumanLeft Ventricular Outflow Obstruction susceptibilityIAGP DNA:SNP:3'UTR:rs59382073(human)RGD 
Tbx2RatLeft Ventricular Outflow Obstruction susceptibilityISOTBX2 (Homo sapiens)DNA:SNP:3'UTR:rs59382073(human)RGD 
Tbx2MouseLeft Ventricular Outflow Obstruction susceptibilityISOTBX2 (Homo sapiens)DNA:SNP:3'UTR:rs59382073(human)RGD 
TBX2HumanRight Ventricular Outflow Obstruction susceptibilityIAGP DNA:SNP:3'UTR:rs59382073(human)RGD 
Tbx2RatRight Ventricular Outflow Obstruction susceptibilityISOTBX2 (Homo sapiens)DNA:SNP:3'UTR:rs59382073(human)RGD 
Tbx2MouseRight Ventricular Outflow Obstruction susceptibilityISOTBX2 (Homo sapiens)DNA:SNP:3'UTR:rs59382073(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tbx2  (T-box transcription factor 2)

Genes (Mus musculus)
Tbx2  (T-box 2)

Genes (Homo sapiens)
TBX2  (T-box transcription factor 2)


Additional Information