首页|血清触珠蛋白水平及基因多态性与阿尔茨海默病的关系研究

血清触珠蛋白水平及基因多态性与阿尔茨海默病的关系研究

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目的 探讨血清触珠蛋白(HP)水平及基因多态性与阿尔茨海默病(AD)发生的关系.方法 选取2021年1月至2023年12月延安大学咸阳医院神经内科AD患者113例作为AD组,另选取同期健康体检志愿者113例作为对照组.比较两组HP血清水平及基因多态性,分析血清HP水平及基因多态性对AD易感性的影响,对比AD组不同认知障碍程度患者血清HP水平及基因多态性,分析血清HP水平及基因多态性与AD患者认知障碍程度的关系.结果 AD组血清HP水平为(2.16±0.68)μg·mL-1,高于对照组(1.38±0.41)μg·mL-1(P<0.05);经检验显示,HP基因型分布具有人群代表性(P>0.05).经秩和检验显示,两组HP1-1、HP2-1、HP2-2基因型分布比较差异有统计学意义(P<0.05);经x2检验显示,AD组等位基因HP1频率高于对照组(P<0.05);危险度分析显示,血清HP高水平、HP1-1基因型、携带等位基因 HP1 会显著增加 AD 易感性(RR=3.133、2.210、2.053;95%CI 为 2.288~4.289、1.736~2.814、1.654~2.547,P<0.05);AD组重度认知障碍患者血清HP水平(2.86±0.63)μg·mL-1>中度认知障碍患者(2.16±0.40)μg·mL-1>轻度认知障碍患者(1.83±0.31)μg·mL-1(P<0.05);经秩和检验显示,AD组不同认知障碍程度患者HP1-1、HP2-1、HP2-2基因型分布比较差异有统计学意义(P<0.05);经x2检验显示,AD组重度认知障碍患者等位基因HP1频率>中度认知障碍患者>轻度认知障碍患者(P<0.05);Spearman相关性分析,血清HP水平、基因型HP1-1、等位基因HP1与认知障碍程度呈正相关(P<0.05).结论 血清HP高水平、HP1-1基因型、携带等位基因HP1会显著增加AD发生风险,且与认知障碍程度密切相关,为临床诊治提供新靶点.
Study on the relationship between serum level of haptoglobin and gene polymorphism and Alzheimer's disease
Objective To investigate the relationship between serum levels and gene polymorphisms of haptoglobin(HP)and the occurrence of Alzheimer's disease(AD).Methods A total of 113 cases of AD patients in Department of Neurology,Xianyang Hospital,Yan'an University from January 2021 to December 2023 were selected as AD group,and 1 13 cases of volunteers for health checkup in the same period were selected as control group.HP serum levels and gene polymorphisms were compared between the two groups to analyze the effects of HP serum levels and gene polymorphisms on AD susceptibility,and the relationship between HP serum levels and gene polymorphisms and the degree of cognitive impairment in AD patients was compared in AD group.Results The serum level of HP in AD group was(2.16±0.68)µ g·mL-1,higher than that in control group(1.38±0.41)μg·mL-1(P<0.05).The results showed that the distribution of HP genotype was representative of the population(P>0.05).The rank sum test showed that the genotype distribution of HP1-1,HP2-1 and HP2-2 between the two groups had statistical significance(P<0.05).x2 test showed that the frequency of allele HP1 in AD group was higher than that in control group(P<0.05).Risk analysis showed that high serum levels of HP.HP 1-1 genotype,and carrying allele HP1 significantly increased AD susceptibility(RR=3.133,2.210,2.053;95%CI was 2.288-4.289,1.736-2.814,1.654-2.547,P<0.05).The serum level of HP in AD group was(2.86±0.63)μg·mL-1>(2.16±0.40)μg·mL-1>(1.83±0.31)μg·mL-1 in patients with severe cognitive impairment>(2.16±0.40)μg·mL-1>(P<0.05).The rank sum test showed that the genotype distribution of HP1-1,HP2-1 and HP2-2 of patients with different degrees of cognitive impairment in AD group had statistical significance(P<0.05).x2 test showed that the frequency of allele HP1 in AD group was higher in patients with severe cognitive impairment than in patients with moderate cognitive impairment than in patients with mild cognitive impairment(P<0.05).Spearman correlation analysis showed that HP serum level,genotype HP1-1 and allele HP1 were positively correlated with the degree of cognitive impairment(P<0.05).Conclusion High levels of HP serum,HP 1-1 genotype,and carrying the allele HP1 significantly increase the risk of AD,and are closely related to the degree of cognitive impairment,providing new targets for clinical diagnosis and treatment.

Alzheimer's diseaseHaptoglobinSerum levelGene polymorphismSusceptibilityCognitive impairment

贺蕾、张芮娟

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712000 陕西,延安大学咸阳医院神经内科

阿尔茨海默病 触珠蛋白 血清水平 基因多态性 易感性 认知障碍

2025

脑与神经疾病杂志
华北地区三省二市神经病学学会协作组,河北医科大学第二医院

脑与神经疾病杂志

影响因子:0.865
ISSN:1006-351X
年,卷(期):2025.33(2)