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Table 3 Mitochondrial DNA mutations and haplotypes associated with late-onset AD

From: Maternal transmission of Alzheimer's disease: Prodromal metabolic phenotype and the search for genes

Approach

Finding

Positive findings

Negative

findings

Case-control

mutation

identification

T146G,

T195C,

T152C,

A189G,

T414G

Increased AD

risk [121]

No mutation

found [122]

 

4977 bp

deletion

More frequent in

AD patients [123]

 
 

A4336G

More frequent in

AD patients [124, 125]

No

association

with AD [126]

Haplogroup

association

K, U

Decreased risk of

AD, neutralising

the effect of ApoE

genotype [127]

No effect of

K

haplogroup

in AD [128]

 

U

Increased risk in

males, decreased

risk in females [128]

 
 

J

Increased in AD

patients in a

French-Canadian

population [129]

No AD

haplogroup

association

in US

population [122]

 

T

Decreased AD risk

in a French-

Canadian

population [129]

No AD

haplogroup

association

in US

population [122]

  1. bp = base pair