PFN1基因单核苷酸变异对脑卒中后偏瘫继发骨质疏松症和骨代谢指标的影响  

Effect of single nucleotide variation of PFN1 gene on osteoporosis and bone metabolism after stroke

作　　者：苏赢 赵娜 周宏明 王海涛 惠志强 黄健 许鹏 Su Ying;Zhao Na;Zhou Hongming;Wang Haitao;Hui Zhiqiang;Huang Jian;Xu Peng(Department of Neurosurgery,Linyi Central Hospital,Linyi 276400,China;Department of Spine Surgery,Linyi Central Hospital,Linyi 276400,China)

机构地区：[1]临沂市中心医院神经外科,临沂276400 [2]临沂市中心医院脊柱外科,临沂276400

出　　处：《中华内分泌外科杂志》2023年第6期753-757,共5页Chinese Journal of Endocrine Surgery

基　　金：山东省自然科学基金(ZR2020QH080)。

摘　　要：目的探究前纤维蛋白-1(profilin-1,PFN1)基因单核苷酸变异与脑卒中后偏瘫继发骨质疏松症(osteoporosis,OP)的相关性及其对骨代谢指标的影响。方法选择2019年1月至2023年6月于临沂市中心医院就诊并治疗的120例脑卒中后偏瘫患者作为研究对象,分为骨质疏松组和非骨质疏松组。检测所有患者的25-经维生素D[25-(OH)D]、抗酒石酸酸性磷酸酶(tartrate resistant acid phosphatase,TRAP)、骨钙素(bonegla protein,BGP)、血清I型前胶原氨基端延长肽(type I procollagen amino ends lengthen the brain,P1NP)和I型胶原基端β特殊序列(type I collagen terminalβspecial sequence,β-CTX)水平。对PFN1基因中的2个标签基因单核苷酸多态性(rs6559、rs78224458)进行了基因分型。结果骨质疏松组和非骨质疏松组的血清25-(OH)D、TRAP、P1NP和β-CTX水平比较差异有统计学意义(P=0.001、0.002、0.004、0.009)。骨质疏松患者和非骨质疏松患者的PFN1基因rs6559位点GG、GA、AA基因型分布比较差异有统计学意义(P=0.002)。相加模型显示,相较于GG基因型携带者,GA和AA基因型携带患者继发骨质疏松的风险分别增大3.250和5.417倍;显性模型结果表明,相较于携带GG基因型的患者,携带突变基因(GA或AA)患者继发骨质疏松的风险增大3.792倍;隐性模型结果显示,相较于GG与GA携带患者,AA基因型患者继发骨质疏松的风险增大3.810倍。骨质疏松患者和非骨质疏松患者的PFN1基因rs78224458位点TT、TC、CC基因型分布、遗传模型和等位基因频率比较差异无统计学意义(P=0.320)。不同PFN1基因rs6559位点GG、GA、AA基因型患者的P1NP、β-CTX水平比较差异有统计学意义(P=0.004、0.006)。结论PFN1基因rs78224458位点变异与脑卒中后偏瘫患者继发骨质疏松有关,并可能影响患者的骨代谢指标。Objective To explore the correlation between the single nucleotide variation of profibrin-1(PFN1)gene and secondary osteoporosis(OP)after stroke and its influence on bone metabolism indexes.Methods 120 patients with post-stroke hemiplegia who were treated in our hospital from Jan.2019 to Jun.2023 were selected as study objects and divided into OP group and non-OP group.Levels of vitamin D[25-(OH)D],tartrate-resistant acid phosphatase(TRAP),osteocalcin(BGP),serum type I procollagen amino terminal prolongation brain(P1NP)and type I collagen basal terminalβspecial sequence(β-CTX)were detected in all patients.Two SNPS(rs6559 and rs78224458)in PFN1 gene were genotyped.Results There were significant differences in serum 25-(OH)D,TRAP,P1NP andβ-CTX levels between OP group and non-OP group(P<0.05).The GG,GA and AA genotypes at rs6559 of PFN1 gene were significantly different between OP and non-OP patients(P<0.05).The combined model showed that compared with GG genotype carriers,the risk of secondary OP in GA and AA genotype carriers was 3.250 and 5.417 times higher,respectively.The results of the dominant model showed that the risk of secondary OP was 3.792 times higher in patients with mutant genes(GA or AA)than in patients with GG genotype.Recessive model results showed that patients with AA genotype had a 3.810-fold increased risk of secondary OP compared with GG and GA carriers.There was no significant difference in TT,TC,CC genotype distribution,genetic model and allele frequency at rs78224458 of PFN1 gene between OP patients and non-OP patients(P>0.05).There were no significant differences in 25-(OH)D,TRAP or BGP among the rs6559 GG,GA and AA genotypes of PFN1 gene(P>0.05),while there were significant differences in P1NP andβ-CTX levels among the three groups(P<0.05).Conclusion The rs78224458 variation of PFN1 gene is associated with secondary OP in patients with hemiplegia after stroke,and may affect the bone metabolism indexes of patients.

关 键 词：脑卒中 偏瘫 骨质疏松 前纤维蛋白1基因 单核苷酸多态性 

分 类 号：R743.3[医药卫生—神经病学与精神病学] R580[医药卫生—临床医学]