Analysis of European mitochondrial haplogroups with Alzheimer disease risk

被引：230

作者：

van der Walt, JM

Dementieva, YA

Martin, ER

Scott, WK

Nicodemus, KK

Kroner, CC

Welsh-Bohmer, KA

Saunders, AM

Roses, AD

Small, GW

Schmechel, DE

Doraiswamy, PM

Gilbert, JR

Haines, JL

Vance, JM

Pericak-Vance, MA ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Dept Med, Ctr Human Genet, Durham, NC 27710 USA

[2] Marshall Univ, Dept Math, Huntington, WV 25755 USA

[3] Duke Univ, Med Ctr, Dept Psychiat & Behav Sci, Durham, NC 27710 USA

[4] Duke Univ, Med Ctr, Joseph & Kathleen Bryan Alzheimers Dis Res Ctr, Durham, NC 27710 USA

[5] GlaxoSmithKline Res & Dev, Res Triangle Pk, NC 27709 USA

[6] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA

[7] Vanderbilt Univ, Med Ctr, Program Human Genet, Nashville, TN 37232 USA

来源：

NEUROSCIENCE LETTERS | 2004年 / 365卷 / 01期

关键词：

Alzheimer disease; mtDNA; mitochondrial haplogroups; APOE;

D O I：

10.1016/j.neulet.2004.04.051

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We examined the association of mtDNA variation with Alzheimer disease (AD) risk in Caucasians (989 cases and 328 controls) testing the effect of individual haplogroups and single nucleotide polymorphisms (SNPs). Logistic regression analyses were used to assess risk of haplogroups and SNPs with AD in both main effects and interaction models. Males classified as haplogroup U showed an increase in risk (OR = 2.30; 95% CI, 1.03-5.11; P = 0.04) of AD relative to the most common haplogroup H, while females demonstrated a significant decrease in risk with haplogroup U (OR = 0.44; 95% CI, 0.24-0.80; P = 0.007). Our results were independent of APOE genotype, demonstrating that the effect of mt variation is not confounded by APOE4 carrier status. We suggest that variations within haplogroup U may be involved in AD expression in combination with environmental exposures or nuclear proteins other than APOE. (C) 2004 Published by Elsevier Ireland Ltd.

引用

页码：28 / 32

页数：5

共 20 条

[1] Gender differences in the incidence of AD and vascular dementia - The EURODEM Studies [J].