| Objective:(1)serum lipoprotein(a)is a plasma lipid component in the blood circulation system.Recent studies have shown that serum lipoprotein(a)level is closely related to the occurrence of cardiovascular and cerebrovascular diseases and is an independent risk factor for atherosclerosis.In this study,the relationship between single nucleotide polymorphism(SNP)sites rs10455872 and rs3798220 of lipoprotein(a)gene(LPA gene)and serum lipoprotein(a)concentration in hebei population was investigated,so as to further discuss the influence of different genotypes of single nucleotide polymorphism sites of LPA gene on serum lipoprotein(a)concentration.(2)To investigate the heritability and mode of single nucleotide polymorphism(SNP)of lipoprotein(a)gene(LPA gene)rs10455872 and rs3798220 in the family.Methods:(1)A total of 60 people were recruited form the center of physical examination,Hebei medical university,from March 2019-June 2019.General examination of all the staff(blood pressure,electrocardiogram,etc.),cardiac ultrasound are no exception,centerless history of cerebrovascular disease,all did not affect blood lipid of drugs,according to the concentration of serum lipoprotein(a)divided into normal group and the high-risk group,most studies abroad serum lipoprotein(a)concentrations higher than 30 mg/d L as the judgment standard,in the Chinese han population,calculated according to 95% confidence interval,the normal reference range of 0 to 30 mg/d L.Therefore,the serum lipoprotein(a)concentration of 30mg/d L was also selected as the judgment standard in this study,and this was the grouping standard.Each participant was subjected to intravenous blood collection in edta-k2 anticoagulant tube and coagulant promoter/separation tube at least 8 hours after fasting in the morning for whole-blood genomic DNA extraction and biochemical test,respectively.Genotype was compared according to lipoprotein(a)concentration.The differences of clinical metabolic indexes among genotypes were compared according to genotype grouping.(2)Family-based study adopts the TDT research method based on the family,We selected the proband from the personnel who underwent physical examination in the physical examination center of the second hospital of hebei medical university from March 2019 to June 2019.The physical examination results of all the proband subjects showed no metabolic diseases,such as cardiovascular disease,hypertension,and hyperglycemia.They did not take drugs that affect the level of blood lipid,and the serum biochemical test showed only elevated lipoprotein(a)level higher than 30mg/d L.Using a core family composed of their parents and themselves to satisfy the classical TDT analysis as the research object,venous blood was collected 8 hours after fasting for serum lipoprotein(a)detection and genomic DNA extraction.Serum lipoprotein(a)detection was performed by immunoturbidimetry,and single nucleotide polymorphisms of rs10455872 and rs3798220 were detected by PCR and direct sequencing.Through family analysis,the relationship between single nucleotide polymorphisms at rs10455872 and rs3798220 of LPA gene and family heredity was studied,and its heritability and genetic pattern were discussed.Results:(1)No G allele was detected at SNP rs10455872 in the case-control study.TT and TC genotypes were detected at SNP rs3798220,but CC genotypes were not detected.There was no statistically significant difference in allele distribution frequency between the normal group and the high-risk group(P >0.05).The serum Lp(a)level of TT genotype individuals was significantly higher than that of TC genotype individuals(P < 0.05).No significant difference was found in other general data and other biochemical indicators(P > 0.05).(2)The genotype distribution of the two SNPS in the family analysis was detected to conform to the Hard-weinberg equilibrium.The TDT test showed that both SNPS had excessive transmission,but the transmission was not statistically significant(P >0.05).In the linkage imbalance test and haplotype analysis,the haplotypes did not show significant statistical significance(P > 0.05).Conclusions:(1)The incidence of SNP rs10455872 mutation may be lower in han population without cardiovascular disease in hebei province.The SNP rs3798220 locus is closely related to serum Lp(a)level,and individuals with TT genotype have higher serum Lp(a)level,which should be followed by a case-control study with a larger sample.(2)In the core family of han population in hebei province,the SNP rs10455872 and rs3798220 sites were over-transmitted but meaningless,which may not be the susceptible genes with elevated serum Lp(a)level in han population in hebei province,and further studies on the samples from other families should be carried out. |
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