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CLU和PICALM基因多态性与土耳其人群阿尔茨海默病之间无关联

LACK OF ASSOCIATIONS BETWEEN CLU AND PICALM GENE POLYMORPHISMS AND ALZHEIMER'S DISEASE IN A TURKISH POPULATION.

作者信息

Sen Aysu, Arslan Mehtap, Erdal Mehmet Emin, Ay Ozlem Izci, Yilmaz Senay Gorucu, Kurt Erhan, Arpaci Baki

出版信息

Ideggyogy Sz. 2015 Mar 30;68(3-4):113-20.

Abstract

BACKGROUND AND PURPOSE

To investigate the association between the rs11136000 single nucleotide polymorphism (SNP) of the clusterin (CLU) gene, the rs541458 and rs3851179 SNPs of the phosphatidylinositol-binding clathrin assembly protein (PICALM) gene and Alzheimer's disease (AD) in a Turkish population, and to determine whether there are any relationships between the CLU and the PICALM genotypes and behavioral and psychological symptoms of dementia (BPSD) in the Turkish population.

METHODS

One-hundred and twelve AD patients and 106 controls were included in this study. BPSD were evaluated by the Behavioral Pathology in Alzheimer's Disease Rating Scale (BEHAVE-AD). SNPs in the CLU and the PICALM gene were genotyped by Real-Time PCR. Genotype distributions were assessed for the groups of patients and controls, for the patient groups with and without each BPSD, and "No BPSD" and "BPSD".

RESULTS

The CLU and the PICALM genotypes were similar in the AD and control subjects, and the groups with and without each BPSD. There were also no significant differences between the "No BPSD" and the "BPSD" groups for the PICALM genotypes, but even without a statistical significance, it is notable that none of the "No BPSD" patients had genotype pattern CLU-rs11136000-TT, and the female subjects with genotype pattern CLU-rs11136000-TT had higher mean score of BEHAVE-AD.

CONCLUSION

This study claims that investigated SNPs are not genetic risk factors for AD in a Turkish population. In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to development of BPSD, but the rs11136000 of CLU SNP might be related to development of BPSD in AD female Turkish subpopulation.

摘要

背景与目的

研究土耳其人群中簇集蛋白(CLU)基因的rs11136000单核苷酸多态性(SNP)、磷脂酰肌醇结合网格蛋白组装蛋白(PICALM)基因的rs541458和rs3851179 SNPs与阿尔茨海默病(AD)之间的关联,并确定土耳其人群中CLU和PICALM基因的基因型与痴呆的行为和心理症状(BPSD)之间是否存在任何关系。

方法

本研究纳入了112例AD患者和106例对照。通过阿尔茨海默病行为病理评定量表(BEHAVE-AD)评估BPSD。通过实时聚合酶链反应对CLU和PICALM基因中的SNP进行基因分型。评估患者组和对照组、有或无每种BPSD的患者组以及“无BPSD”和“有BPSD”组的基因型分布。

结果

AD患者和对照受试者、有或无每种BPSD的组中CLU和PICALM基因型相似。PICALM基因型的“无BPSD”组和“有BPSD”组之间也没有显著差异,但即使没有统计学意义,值得注意的是,“无BPSD”患者中没有一个具有CLU-rs11136000-TT基因型模式,而具有CLU-rs11136000-TT基因型模式的女性受试者的BEHAVE-AD平均得分更高。

结论

本研究表明,在土耳其人群中,所研究的SNP不是AD的遗传危险因素。此外,PICALM SNPs的rs541458和rs3851179与BPSD的发生无关,但CLU SNP的rs11136000可能与土耳其AD女性亚群中BPSD的发生有关。

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