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载脂蛋白E基因(APOE)基因型对城市人群中阿尔茨海默病(AD)家族聚集性的影响。

Influence of APOE genotype on familial aggregation of AD in an urban population.

作者信息

Devi G, Ottman R, Tang M, Marder K, Stern Y, Tycko B, Mayeux R

机构信息

Gertrude H. Sergievsky Center, Department of Neurology, College of Physicians and Surgeons, New York, NY 10032, USA.

出版信息

Neurology. 1999 Sep 11;53(4):789-94. doi: 10.1212/wnl.53.4.789.

DOI:10.1212/wnl.53.4.789
PMID:10489042
Abstract

OBJECTIVE

To examine the influence of the proband's APOE genotype on AD among first-degree relatives in a community-based study of African Americans, whites, and Caribbean Hispanics.

METHODS

History of AD and demographic information were obtained on 1,073 siblings and parents of 312 patients with AD and 2,722 siblings and parents of 802 nondemented controls. APOE genotyping was performed on all 1,114 patients and controls.

RESULTS

A higher proportion of patients with AD (35%) than controls (27%) had one or more APOE-epsilon4 alleles (p = 0.03). When compared with relatives of controls without an APOE-epsilon4 allele, the risk for AD was increased in first-degree relatives of both patients (rate ratio [RR] = 1.9, 95% confidence interval [CI] = 1.2 to 3.1) and controls (RR = 1.8, 95% CI = 1.2 to 2.6) with one or more APOE-epsilone alleles, regardless of ethnic group. There was a similar trend of increased risk in relatives of patients without an APOE-epsilon4 allele, but this was limited to Hispanics and African Americans.

CONCLUSIONS

The presence of an APOE-epsilon4 allele increases risk for AD among first-degree relatives, regardless of the probands' disease status, among all ethnic groups. Relatives of patients without an APOE-epsilon4 allele were also at increased risk for AD among Hispanics and African Americans, suggesting that other genes or risk factors may influence risk.

摘要

目的

在一项针对非裔美国人、白人和加勒比西班牙裔的社区研究中,检验先证者的载脂蛋白E(APOE)基因型对其一级亲属患阿尔茨海默病(AD)的影响。

方法

获取了312例AD患者的1073名兄弟姐妹及父母,以及802名非痴呆对照者的2722名兄弟姐妹及父母的AD病史和人口统计学信息。对所有1114例患者及对照者进行APOE基因分型。

结果

与对照者(27%)相比,AD患者中携带一个或多个APOE-ε4等位基因的比例更高(35%)(p = 0.03)。与无APOE-ε4等位基因的对照者的亲属相比,无论种族如何,携带一个或多个APOE-ε等位基因的患者及对照者的一级亲属患AD的风险均增加(率比[RR]=1.9,95%置信区间[CI]=1.2至3.1)。在无APOE-ε4等位基因的患者的亲属中也存在类似的风险增加趋势,但仅限于西班牙裔和非裔美国人。

结论

无论先证者的疾病状态如何,在所有种族中,APOE-ε4等位基因的存在都会增加一级亲属患AD的风险。在西班牙裔和非裔美国人中,无APOE-ε4等位基因的患者的亲属患AD的风险也增加,这表明其他基因或风险因素可能影响患病风险。

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Children of persons with Alzheimer disease: what does the future hold?阿尔茨海默病患者的子女:未来会怎样?
Alzheimer Dis Assoc Disord. 2008 Jan-Mar;22(1):6-20. doi: 10.1097/WAD.0b013e31816653ac.
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Neurol Clin. 2007 Aug;25(3):611-67, v. doi: 10.1016/j.ncl.2007.03.009.
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Why should primary care physicians know about the genetics of dementia?为什么初级保健医生应该了解痴呆症的遗传学知识?
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