精准医学杂志2025，Vol.40Issue(5)：413-421,428,10.DOI:10.13362/j.jpmed.202540089
CSF1R基因多态性与散发性帕金森病的相关性研究
The association between colony-stimulating factor 1 receptor gene polymorphisms and sporadic Par-kinson's disease
摘要
Abstract
Objective To investigate the association between colony-stimulating factor 1 receptor(CSF1R)gene poly-morphisms and the risk and phenotype of sporadic Parkinson's disease(PD).Methods A study of the Chinese Han population in northern China was conducted among 516 patients with sporadic PD who were admitted to Department of Neurology in our hospi-tal from December 2017 to June 2023(case group),and 484 individuals who underwent physical examination in the Health Scree-ning Center of our hospital during the same period of time were enrolled as control group.General information was collected and compared between the two groups,and the common phenotypes of PD and the results of PD-related scales for the patients in the case group was collected.Peripheral venous blood samples were collected from both groups,and polymerase chain reaction-restric-tion fragment length polymorphism was used to detect the genotypes at the rs216136 and rs10079250 loci of the CSF1R gene;ge-notype and allele frequencies were compared between the two groups.The multiple linear regression model was used to analyze the association between different genotypes at the above two loci of the CSF1R gene and common phenotypes of PD,and the results of PD-related scales.In a mixed population study,606 PD patients were selected from the PPMI database as PD group,and 197 healthy individuals were selected as healthy control group;related data were collected from the two groups of subjects,including general information,genotype and allele frequencies at the 12 PD-related loci of the CSF1R gene,the common phenotypes of PD,and the results of PD-related scales.The multiple linear regression model was used to analyze the association between polymor-phisms at the above 12 loci of the CSF1R gene and the common phenotypes of PD,and the results of PD-related scales.Results In the Chinese Han population of northern China,there was a significant difference in age between the two groups(t=-9.174,P＜0.01);after stratification based on age,there were significant differences in the frequencies of G/G and A/A genotypes and al-lele frequencies at CSF1R rs216136 between the two groups in the age group of 50-59 years(OR=0.444,95％CI=0.213-0.925,P＜0.05).The multiple linear regression model analysis showed that CSF1R rs216136 was associated with the onset of psychiatric symptoms in PD patients(β=0.169,95％CI=0.030-0.314,P＜0.01).In the mixed population,there were significant differences between the two groups in Hoehn-Yahr stage,MDS-UPDRS,MoCA,ADL,BJLOT,BNT,HVLT,LNS,LXFLUE,SFT,GDS,and RBD scores(x2=780.616,t=-45.672-10.574,P＜0.05).The multiple linear regression model analysis showed that CSF1R gene polymorphisms were associated with the reduction in dopamine transporter(DAT)binding in the left caudate nucleus of the striatum,the increase in MDS-UPDRS Part Ⅰ score,and the reductions in LNS and LXFLUE-A scores(P＜0.05).Conclusion CSF1R gene polymorphism might be an influencing fac-tor for the early onset of PD in the Chinese Han population in northern China,and it may be associated with the onset of psychiatric symptoms in PD.In the mixed population,CSF1R gene polymorphism is not significantly associated with the risk of PD,but it may reduce DAT binding rate in the corpus striatum and exacerbate cognitive impairment of PD.关键词
帕金森病/受体,集落刺激因子/多态性,单核苷酸/生物学变异,种群/表型Key words
Parkinson disease/Receptors,colony-stimulating factor/Polymorphism,single nucleotide/Biological varia-tion,population/Phenotype分类
医药卫生引用本文复制引用
周雨婷,贺琪晴,李亚庆,刘贤,田青,李韩,侯炳辉,谢安木..CSF1R基因多态性与散发性帕金森病的相关性研究[J].精准医学杂志,2025,40(5):413-421,428,10.基金项目
国家自然科学基金项目(82471459) （82471459）
