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人类白细胞抗原A2等位基因与阿尔茨海默病发病年龄提前的关联。

Association of the HLA-A2 allele with an earlier age of onset of Alzheimer's disease.

作者信息

Combarros O, Escribano J, Sánchez-Velasco P, Leyva-Cobián F, Oterino A, Leno C, Berciano J

机构信息

Service of Neurology, University Hospital Marqués de Valdecilla, Santander, Spain.

出版信息

Acta Neurol Scand. 1998 Aug;98(2):140-1. doi: 10.1111/j.1600-0404.1998.tb01735.x.

Abstract

INTRODUCTION

The HLA-A2 allele has recently been considered as a risk factor in AD by advancing the age at onset of the disease, especially in subjects who were homozygous for the apoE epsilon4 allele.

MATERIAL AND METHODS

We examined the distribution of apoE genotypes and A2 allele as a function of age at onset in 109 patients with sporadic and familial AD.

RESULTS

In the early onset (< or =60 years) and late onset (>75 years) AD groups, there was, respectively, a 2.2 year and a 2.7 year earlier onset in the A2 positive cases. Age effect was not apparent in the middle onset (61-75 years) AD group. The effect of A2 allele on the age at onset was not different between familial and sporadic AD cases. The presence or absence of the A2 allele did not modify mean age at onset in the groups homozygous and heterozygous for epsilon4, and in cases with no epsilon4 alleles.

CONCLUSION

Though the sample size was small, there is a trend in favor of an A2 effect on age at onset. Additionally, there is no evidence of interaction between A2 and apoE epsilon4 alleles on age at onset of AD.

摘要

引言

HLA - A2等位基因最近被认为是阿尔茨海默病(AD)的一个风险因素,它会使疾病发病年龄提前,尤其是在载脂蛋白Eε4等位基因纯合的个体中。

材料与方法

我们研究了109例散发性和家族性AD患者中载脂蛋白E基因型和A2等位基因随发病年龄的分布情况。

结果

在早发型(≤60岁)和晚发型(>75岁)AD组中,A2阳性病例的发病年龄分别提前了2.2岁和2.7岁。在中发型(61 - 75岁)AD组中年龄效应不明显。A2等位基因对发病年龄的影响在家族性和散发性AD病例之间没有差异。A2等位基因的存在与否并没有改变ε4纯合子、杂合子组以及无ε4等位基因病例的平均发病年龄。

结论

尽管样本量较小,但存在A2对发病年龄有影响的趋势。此外,没有证据表明A2和载脂蛋白Eε4等位基因在AD发病年龄上存在相互作用。

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