Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
Genetic Variants at the rs4720169 Locus of <i>TBX20</i> and the rs12921862 Locus of <i>AXIN1</i> May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study.
Two variants were found to confer a risk of CHDs: variant rs4720169 of <i>TBX20</i> in which the OR for the heterozygous state was 1.88 (95% confidence interval [CI]: 1.12-3.14, <i>p</i> = 0.010), whereas the OR for the homozygous state was 3.82 (95% CI: 1.18-12.3, <i>p</i> = 0.010); and variant rs12921862 of <i>AXIN1</i> in which the OR for the heterozygous state was 4.15 (95% CI: 2.42-7.10; <i>p</i> ≤ 0.001), whereas the OR for the homozygous state was 9.2 (95% CI: 1.31-64.7, <i>p</i> = 0.008) for allele A.
Among the 8 single nucleotide polymorphisms (SNPs) identified, six SNPs are in strong linkage disequilibrium and the minor alleles are associated with lower CHD risk (for rs10235849 chosen as tag SNP, p = 0.0069, OR (95% CI) = 0.68 (0.51-0.90)).
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.
These findings suggested that the TC genotype of SNP rs3999941 and AC genotype of the new SNP c.657A>C</span> 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.
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.