NPPA rs198358基因多态性与持续不卧床腹膜透析患者容量状况的相关研究

Association of SNP rs198358 in NPPA with volume status in continuous ambulatory peritoneal dialysis patients

目的探讨NPPA基因单核苷酸多态性(single nucleotide polymorphism,SNP)与持续不卧床腹膜透析(continuous ambulatory peritoneal dialysis,CAPD)患者容量状况的相关性。方法选取2017年1月至2019年1月在广西医科大学第二附属医院肾内科规律随访的CAPD患者,收集相关临床资料。DNA直接测序法得到基因型结果。分析NPPA rs198358 SNP与CAPD容量指标的关系。结果60例资料完整CAPD患者中,年龄(43.40±13.78)岁,腹透龄(20.10±17.79)个月。NPPA rs198358基因型及等位基因频率在高血压组和非高血压组比较差异有统计学意义,AA型有更高舒张压、BMI和血脑钠肽前体(N-terminal pro-brain natriuretic peptide,NT-proBNP)水平,AA型的腹膜转运类型以高平均转运为主。rs198358 AA型携带与舒张压、BMI、NT-proBNP水平相关。结论NPPA rs198358 AA型CAPD患者更容易有高血压及高平均转运的腹膜类型,NPPA rs198358与CAPD患者舒张压、BMI及NT-proBNP水平相关,NPPA基因多态性与CAPD容量评估指标有一定相关性。

Objective To explore the association of rs 198358 polymorphisms in NPPA gene with volume status in continuous ambulatory peritoneal dialysis(CAPD)patients.Methods Clinical data of 60 patients undergoing CAPD regularly in the Second Affiliated Hospital of Guangxi Medical University from January 2017 to January2019 were collected.We extracted DNA from whole blood and the genotypic results were obtained by DNA direct sequencing then we studied the association of NPPA rs 198358 polymorphisms with volume status.Results In the60 CAPD patients,the ratio of male to female was 1:1.22,and they aged(43.40±13.78)years,with peritoneal dialysis duration of(20.10±17.79)months.Fifty-one patients had left ventricular hypertrophy(85.0%).Male group had higher SBP,DBP,BMI,BUN and left ventricular end diastolic diameter,and had a larger proportion in patients with Kt/V≤1.7(P<0.05).The genotypes and alleles of rs 198358 in CAPD patients with or without hypertension had significant changes(P<0.05).AA genotypes carrier of rs 198358 had higher DBP,BMI and NT-proBNP level;high average transport"was the main type of peritoneal transport of AA genotype(P<0.05).AA genotype carrier of rs 198358 had correlated with DBP,BMI and NT-proBNP level(P<0.05),but not with SBP(P>0.05).Conclusion NPPA rs 198358 polymorphisms correlate with DBP,BMI and serum NT-proBNP of CAPD patients and there is certain correlation between NPPA rs 198358 polymorphisms and evaluation index of volume status in CAPD patients.