Table 2.

Observed effects of mitochondrial superhaplogroup HV and haplogroup H on risk of Alzheimer’s disease (AD).

Haplogroups	Observations	Reference
HV	Increased risk, especially in females	Maruszak et al. (2011)
	No effect	Elson et al. (2006), Maruszak et al. (2009) and Fachal et al. (2015)
H	Increased risk	Fesahat et al. (2007), Maruszak et al. (2009, 2011) and Coto et al. (2011)
	Defining SNP mt7028C increased risk	Coto et al. (2011)
	Defining SNP mt7028C increased risk in females only	van der Walt et al. (2004)
	H5 increased risk, especially in females	Santoro et al. (2010)
	H5 and APOE4 synergistically increased risk	Maruszak et al. (2011)
	H5a defining SNP mt4336C increased risk in APOE4 carriers	Edland et al. (2002)
	H6a1a and H6a1b decreased risk	Ridge et al. (2012)
	No effect	Chinnery et al. (2000), van der Walt et al. (2005), Mancuso et al. (2007) and Fachal et al. (2015)

Effects of haplogroup H defining single nucleotide polymorphisms (SNPs) and its subhaplogroups are listed under haplogroup H.