ABSTRACT
OBJECTIVES@#To explore the genetic variation sites of caveolin （CAV） and their correlation with sudden unexplained death （SUD）.@*METHODS@#The blood samples were collected from SUD group （71 cases）, coronary artery disease （CAD） group （62 cases） and control group （60 cases）, respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was confirmed and statistical analysis was performed.@*RESULTS@#A total of 4 variation sites that maybe significative were identified in SUD group, and two were newfound which were CAV1： c.45C>T （T15T） and CAV1：c.512G>A （R171H）, and two were SNP loci which were CAV1：c.246C>T （rs35242077） and CAV3：c.99C>T （rs1008642） and had significant difference （P<0.05） in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group.@*CONCLUSIONS@#The variants of CAV1 and CAV3 may be correlated with a part of SUD group.
Subject(s)
Humans , Male , Caveolins/genetics , Coronary Artery Disease , Death, Sudden/etiology , Exons , Genotype , Polymerase Chain Reaction , Polymorphism, Single NucleotideABSTRACT
Due to the negative autopsy and without cardiac structural abnormalities, unexpected sudden cardiac death （USCD） is always a tough issue for forensic pathological expertise. USCD may be associated with parts of fatal arrhythmic diseases. These arrhythmic diseases may be caused by disorders of cardiac ion channels or channel-related proteins. Caveolin can combine with multiple myocardial ion channel proteins through its scaffolding regions and plays an important role in maintaining the depolarization and repolarization of cardiac action potential. When the structure and function of caveolin are affected by gene mutations or abnormal protein expression, the functions of the regulated ion channels are correspondingly impaired, which leads to the occurrence of multiple channelopathies, arrhythmia or even sudden cardiac death. It is important to study the effects of caveolin on the functions of ion channels for exploring the mechanisms of malignant arrhythmia and sudden cardiac death.
Subject(s)
Humans , Arrhythmias, Cardiac/physiopathology , Autopsy , Caveolins/metabolism , Channelopathies/genetics , Death, Sudden, Cardiac/pathology , Forensic Pathology , Ion Channels/metabolism , Mutation , MyocardiumABSTRACT
OBJECTIVE@#To investigate the single nucleotide polymorphism of NOS1AP gene with sudden unexpected death (SUD) during daily activities.@*METHODS@#The heart blood samples were collected from 60 SUD cases in normal daily activities as SUD group and the peripheral blood samples from 80 random unrelated cases as control group. The genome DNAs from all cases were isolated and the gene sequences were analyzed from specific primers of some SNP (rs10494366, rs10918859, rs12143842, rs12742393, rs3751284, and rs348624) of NOS1AP. The allele frequency and genotype frequency were calculated and the difference in these SNP between SUD group and control group were analyzed.@*RESULTS@#The allele frequency and genotype frequency of rs3751284 which located at the sixth exon domain had significant statistical differences between the two groups (P<0.05). The minor allele frequency of rs3751284 was 0.325 in SUD group and was 0.475 in control group.@*CONCLUSION@#rs3751284 might be a susceptibility locus for SUD.