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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