心衰并发肺部感染患者维生素D受体Fokl、Taql基因单核苷酸多态性

Single nucleotide polymorphisms of Vitamin D receptor Fokl and Taql gene of heart failure patients complicated with pulmonary infection

目的探讨维生素D受体Fokl、Taql基因单核苷酸多态性与心衰并发肺部感染易感性及心功能的相关性。方法随机抽取武汉大学中南医院心血管内科2018年1月-2019年12月收治心衰并发肺部感染患者64例纳入肺部感染组,选择同期未发生肺部感染的心衰患者60例作为非肺部感染组。采用聚合酶链式反应限制性片段长度多态性(PCR-RFLP)法检测VDR基因Fokl(rs2228570)、Taql(rs731236)位点基因突变,检测两组患者血液标本中炎症指标C-反应蛋白(CRP)、降钙素原(PCT)、白细胞介素-6(IL-6),心功能指标左心室射血分数(LVEF),左室舒张末期内径(LVEDd)、N末端B型利钠肽原(NT-proBNP)及25(OH)D水平。结果两组Fokl基因rs2228570位点FF、ff基因型,Taql基因rs731236位点TT、tt基因型分布频率差异具有统计学意义(P<0.05);肺部感染组Fokl基因rs2228570位点f等位基因频率、Taql基因rs731236位点t等位基因频率高于非肺部感染组,差异具有统计学意义(P<0.05);校正性别、年龄和心功能分级等混杂因素后,经Logistic回归分析结果显示,Fokl基因rs2228570位点携带Ff+ff基因型、Taql基因rs731236位点Tt+tt基因型分别为Fokl基因rs2228570位点FF基因型、Taql基因rs731236位点TT基因型发病风险的1.864、1.876倍;肺部感染组Fokl、Taql不同基因型CRP、PCT、IL-6、LVEF、LVEDd、NT-proBNP、25(OH)D水平差异具有统计学意义(P<0.05)。结论维生素D受体Fokl、Taql基因单核苷酸多态性与心衰并肺部感染易感性存在关联,可能通过影响维生素D水平影响体内炎症状态,其机制有待进一步研究。

OBJECTIVE To explore the correlation between vitamin D receptor Fokl and Taql gene single nucleotide polymorphisms and susceptibility to heart failure combined with pulmonary infection and cardiac function.METHODS Sixty-four patients with heart failure and pulmonary infection in the Department of Cardiology,Central South Hospital of Wuhan University from Jan.2018 to Dec.2019 were enrolled as the pulmonary infection group;and 60 patients with heart failure who had no pulmonary infection during the same period were included as the non-pulmonary infection group.Polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP)method was used to detect VDR gene Fokl(rs2228570)and Taql(rs731236)locus gene mutations;blood samples from two groups of patients were used to detect levels of inflammatory index C reactive protein(CRP),procalcitonin(PCT),interleukin-6(Interleukin-6,IL-6),N-terminal pro-B natriuretic peptide(NT-proBNP)and 25(OH)D,and cardiac function index Left ventricular ejection fraction(Left ventricular ejection fraction,LVEF),Left ventricular end-diastolic diameter(LVEDd)in patients were also evaluated.RESULTS FF and ff genotypes in Fokl gene locus(rs2228570),TT and tt genotype distribution frequency in Taql gene locus(rs731236)between the two groups were significant(P<0.05).The allele frequency of f in Fokl gene locus(rs2228570)and t in Taql gene locus(rs731236)t allele frequency in the pulmonary infection group were higher than that in the non-pulmonary infection group;the differences between them were significant(P<0.05).After adjusting for confounding factors such as gender,age and cardiac function classification,logistic regression analysis showed that Fokl gene locus(rs2228570)carrding Ff+ff genotype,Taql gene locus(rs731236)Tt+tt genotype carrding Fokl gene rs2228570 locus FF genotype,Taql gene rs731236 locus TT genotype had morbidity risk 1.864,1.876.CRP,PCT,IL-6,LVEF,LVEDd,NT-proBNP,25(OH)D levels in the lung infection group with different Fokl,Taql genotypes were different(P<0.05).CONCLUSION The single nucleotide polymorphisms of vitamin D receptor Fokl and Taql genes are associated with heart failure and susceptibility to pulmonary infection,which may affect the inflammatory state of the body by regulating vitamin D levels,and the mechanism needs to be further studied.