PubMed · 14371487
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L BINET, M STRUMZA. 1955-02-23. [A defibrillator].. https://pubmed.ncbi.nlm.nih.gov/14371487/
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Mutations in voltage-gated sodium channel type (SCN5A) may evoke severe, life-threatening disturbances in cardiac rhythm, including long QT syndrome, idiopathic ventricular fibrillation (Brugada Syndrome), and isolated cardiac conduction disease. There is increasing awareness of the role of common polymorphisms in altering gene function and in susceptibility to diseases. The aim of the present study was to investigate single nucleotide polymorphism (SNP) in SCN5A gene and the distribution of these identified SNPs in Chinese Han nationality. SCN5A gene was sequenced by fluorescent labeling automatic sequencing method in 120 unrelated samples from Han nationality in South China. Allele frequency distribution was tested by Hardy-Weinberg equilibrium. The results showed that a total of 5 SNPs were identified in SCN5A gene, including three SNPs in code region, one SNP in regulatory region and the other in intron 23 adjacent to donor splicing site. The distribution of the SNPs in SCN5A gene was uneven. These allele frequencies in Han population of South China were as follows: G87A (A29A) 27.5%, A1673G (H588R) 10.4%, 4245+82A>G 32.8%, C5457T (D1819D) 41.3% and G6174A 44.9% respectively. The SNPs G87A (A29A), 4245+82A>G and G6174A were reported for the first time. There was no significant difference in the allele frequency of A1673G (H558R) within different ethical populations (P>0.05). C5457T (D1819D) allele frequency of Han population in South China was similar to that observed in Japanese (P>0.5), but higher than that in American (p<0.005). There was no significant difference in the distribution of the SNPs between male group and female group (all p>0.05). S1102Y and other 10 SNPs identified in other ethnic populations have not been detected in Chinese Han population. The allele distribution of SNPs was in good unity with the Hardy-Weinberg equilibrium. It is suggested that the SNP distribution of SCN5A gene varies within different nationalities. These data will be of use for genetic association studies of acquired arrythmias and investigation of sensitivity to drug therapy.
BACKGROUND AND PURPOSE: ECG abnormalities and hypomagnesemia frequently occur after aneurysmal subarachnoid hemorrhage (SAH). Because hypomagnesemia is associated with several ECG abnormalities, we studied whether hypomagnesemia mediates ECG abnormalities after SAH. METHODS: We prospectively studied a consecutive series of 62 patients admitted within 72 hours after aneurysmal SAH. A standard 12-lead ECG and serum magnesium measurement were routinely performed at admission. The relationship between serum magnesium and ECG abnormalities was assessed with linear regression analysis and the Mann-Whitney test in case of dichotomized ECG abnormalities. RESULTS: Hypomagnesemia was present in 23 patients (37%), and 38 patients (61%) had a long QTc duration. Low serum magnesium was related to a long PR interval (P=0.001) and a shorter QTc interval (P=0.004). Adjustment for World Federation of Neurological Surgeons score, hydrocephalus, and the amount of cisternal and ventricular blood did not influence these relations. CONCLUSIONS: In patients with SAH, lower serum magnesium levels are related to less pronounced increase in the QTc interval. Although the direction of the relation was unexpected, decreased serum magnesium might be the missing link between SAH and ECG abnormalities.
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