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VEGF基因多态性与系统性红斑狼疮的遗传易感性研究OA

Study on VEGF genetic polymorphism and genetic susceptibility of systemic lupus erythematosus

中文摘要英文摘要

目的:基于神经精神性狼疮(NPSLE)发病机制,分析血管内皮生长因子(VEGF)基因单核苷酸多态性与NPSLE遗传易感性的关系.方法:选择2020年8月至2020年12月广西医科大学第一附属医院和广西壮族自治区人民医院确诊为NPSLE且无其他自身免疫性疾病的82例患者作为NPSLE组,无精神症状的系统性红斑狼疮患者166例为非NPSLE组,同时选取广西壮族自治区人民医院体检中心的150名健康体检者作为健康对照组.采用聚合酶链式反应(PCR)+多重SNapshot检测方法检测各组受检者3个位点(rs699947、rs10434、rs833070)单核苷酸多态性(SNP)的等位基因和基因型,以及NPSLE与非NPSLE的患病风险相关性.结果:对于rs699947位点基因型频率(AA、AC和CC),NPSLE组分别为11%、64.6%和24.4%,非NPSLE组分别为4.8%、80.7%和14.5%,两组比较差异有统计学意义(x2=7.971,P=0.019).rs10434位点G和A等位基因频率在NPSLE组和健康对照组中差异有统计学意义(x2=12.564,P<0.001);基因型(GG、GA、AA)频率在NPSLE组和健康对照组间差异有统计学意义(x2=25.284,P<0.001);基因型(GG、GA、AA)频率在NPSLE组与非NPSLE组比较差异亦有统计学意义(x2=7.653,P=0.022);突变型杂合模式GA、A等位基因及显性模式(GA+AA)与NPSLE发病均有相关性(OR=5.069,95%CI:2.565~10.020;OR=1.990,95%CI:1.331~2.975;OR=4.867,95%CI:2.474~9.573).rs833070基因型(GG、GA、AA)频率在非NPSLE组与健康对照组中差异有统计学意义(x2=6.080,P=0.048).结论:rs699947的AC基因型可能与非NPSLE的患病风险存在相关性;VEGF rs10434的A等位基因、突变型杂合模式GA、显性模式GA+AA均与NPSLE的发病风险存在相关性,A等位基因和显性模式GA+AA也与非NPSLE的患病风险存在相关性;rs833070基因多态性与NPSLE和非NPSLE风险均无显著相关.

Objective:To analyze the relation between gene single nucleotide polymorphisms(SNPs)of vascular endothelial growth factor(VEGF)and genetic susceptibility of neuropsychiatric systemic lupus erythematosus(NPSLE)based on NPSLE pathogenesis.Methods:A total of 82 patients without other autoimmune diseases who were confirmed as NPSLE at The First Affiliated Hospital of Guangxi Medical University and The People's Hospital of Guangxi Zhuang Autonomous Region from August 2020 to December 2020 were enrolled as NPSLE group.Meanwhile,166 patients with systemic lupus erythematosus(SLE)but without neuropsychiatric symptom were included as non-NPSLE group.According to the principle of matching age with patients of positive control group,150 healthy individuals from the Physical Examination Center of The People's Hospital of Guangxi Zhuang Autonomous Region were selected as the healthy control group.The allele and genotype of 3 SNP of subjects in each group were retrospectively analyzed.Then,the correlation of the risk of occurring disease between NPSLE and non-NPSLE was further analyzed.Results:The frequencies of the genotype of rs699947 locus(AA,AC and CC)of NPSLE group were respectively 11%,64.6%and 24.4%,while those of non-NPSLE group were respectively 4.8%,80.7%and 14.5%,and the differences of them between two groups were significant(x2=7.971,P=0.019).The difference of the frequencies of G and A allele at rs10434 locus between NPSLE group and healthy control group was significant(x2=12.564,P<0.05).The difference of the frequency of the genotypes(GG,GA and AA)between NPSLE group and healthy control group was significant(x2=25.284,P<0.05).The difference of the frequency of the genotypes(GG,GA and AA)between NPSLE group and non-NPSLE group was significant(x2=7.653,P=0.022).The GA and A allele of mutant heterozygous mode,and dominant gene mode(GA+AA)appeared correlation with occurring NPSLE(OR=5.069,95%CI:2.565-10.020,OR=1.990,95%CI:1.331-2.975,OR=4.867,95%CI:2.474-9.573),respectively.The difference of the frequency of rs833070 genotype(GG,GA,AA)between non-NPSLE group and healthy control group was significant(x2=6.080,P=0.048).Conclusion:It is possible that there is correlation between AC genotype of rs699947 and risk of occurring non-NPSLE disease.The A allele,mutant heterozygous GA,and dominant gene(GA+AA)of VEGF rs10434 are correlation with the risk of occurring NPSLE disease.The A allele and dominant mode(GA+AA)are also correlation with the risk of occurring non-NPSLE disease.There is not significant correlations between rs833070 genetic polymorphism and the risk of occurring NPSLE and non-NPSLE(P>0.05).

阳丽华;苏靖凯;方草;刘仁峰;王健;吴荣才;梁英

中国人民解放军联勤保障部队第九二三医院检验科 南宁 530021中国人民解放军联勤保障部队第九二三医院检验科 南宁 530021中国人民解放军联勤保障部队第九二三医院检验科 南宁 530021中国人民解放军联勤保障部队第九二三医院检验科 南宁 530021广西医科大学第一附属医院检验科 南宁 530021广西壮族自治区人民医院检验科 南宁 530021中国人民解放军联勤保障部队第九二三医院检验科 南宁 530021

医药卫生

血管内皮生长因子(VEGF)神经精神性狼疮基因多态性遗传易感性聚合酶链式反应(PCR)

Vascular endothelial growth factor(VEGF)Neuropsychiatric systemic lupus erythematosusGenetic polymorphismGenetic susceptibilityPolymerase chain reaction(PCR)

《中国医学装备》 2026 (4)

38-42,5

广西壮族自治区卫生健康委员会自筹经费科研课题(Z20210591) Self-funded Research Project of the Health Commission of Guangxi Zhuang Autonomous Region(Z20210591)

10.3969/j.issn.1672-8270.2026.04.007

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