Key result
The MSX1 gene variations rs3821949 and rs12532 were significantly associated with the risk of congenital heart diseases, specifically ventricular septal defects, in a Chinese Han population.
Why the study?
Are variations in MSX1 and MSX2 genes associated with congenital heart disease in a Chinese Han population?
Case-Control (n=700)
Yes
Are variations in MSX1 and MSX2 genes associated with congenital heart disease in a Chinese Han population?
Absolute Event Rate: 24.7% vs 18%
p-value: p=0.002
SNPs rs3821949 and rs12532 in the MSX1 gene are associated with congenital heart disease, specifically ventricular septal defects, in the Chinese Han population.
MSX1 variants may associate with CHD risk; leaves open causal roles pending replication and functional studies.
BACKGROUND: The human heart consists of several cell types with distinct lineage origins. Interactions between these cardiac progenitors are very important for heart formation. The muscle segment homeobox gene family plays a key role in the cell morphogenesis and growth, controlled cellular proliferation, differentiation, and apoptosis, but the relationships between the genetic abnormalities and CHD phenotypes still remain largely unknown. The aim of this work was to evaluate variations in MSX1 and MSX2 for their possible associations with CHD. METHODS: We sequenced the MSX1 and MSX2 genes for 300 Chinese Han CHD patients and 400 normal controls and identified the variations. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 19.0). The Hardy-Weinberg equilibrium test of the population was carried out using the online software OEGE. RESULTS: Six variations rs4647952, rs2048152, rs4242182, rs61739543, rs111542301 and rs3087539 were identified in the MSX2 gene, but the genetic heterozygosity of those SNPs was very low. In contrast, the genetic heterozygosity of two variations rs3821949 near the 5'UTR and rs12532 within 3'UTR of the MSX1 gene was considerably high. Statistical analyses showed that rs3821949 and rs12532 were associated with the risk of CHD (specifically VSD). CONCLUSIONS: The SNPs rs3821949 and rs12532 in the MSX1 gene were associated with CHD in Chinese Han populations.
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Li et al. (2015) conducted a case-control in Congenital Heart Diseases (CHD) (n=700). MSX1 gene variations (rs3821949 and rs12532) vs. Normal controls was evaluated on Association of MSX1 rs3821949 allele frequency with CHD (p=0.002). The MSX1 gene variations rs3821949 and rs12532 were significantly associated with the risk of congenital heart diseases, specifically ventricular septal defects, in a Chinese Han population.
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