Genetics of Alzheimer’s Disease

Table 2

Mitochondrial variation/haplogroups associated with AD.

Haplogroup	Dataset	Effect	Ethnicity	No. cases/controls
B4C1 [132]	Selected SNPs	Risk	Japanese	96/384
G2A [132]	Selected SNPs	Risk	Japanese	96/384
HV [133]	Haplogroups, SNPs	Risk	Polish	222/252
H [134]	HVS-I sequence	Risk	Iranian	30/100
H5/H5A [135]	D-loop sequence, restriction analysis	Risk	Italian	936/776
H6A1A/H6A1B [136]	Full mtDNA sequences	Protective	Caucasian	101/632
K [137]	Haplogroups	Protective	Italian	N/A*
N9B1 [132]	Selected SNPs	Risk	Japanese	96/384
U [134, 138]	HVS-I sequence, 10 SNPs	Risk	Iranian, Caucasian	30/100, 989/328**
U [137, 138]	Haplogroups, 10 SNPs	Protective	Italian, Caucasian	N/A*, 989/328**
UK [139]	138 SNPs	Risk	Caucasian	170/188
None [140]	4 SNPs	None	Unknown	70/80
None [141]	European haplogroups	None	Unknown	185/179
None [142]	U, K, J, and T haplogroups	None	English	185/447
None [143]	European haplogroups	None	Tuscan	209/191
None [144]	Haplogroups	None	Finnish	128/99***
None [145]	138 SNPs	None	Caucasian	3250/1221

∗The authors showed that haplogroups U and K neutralized the risk of the APOE e4 allele.
∗∗The authors demonstrated an increased risk for AD for males with haplogroup U and decreased risk for females with haplogroup U.
∗∗∗These were early onset AD cases.