Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults.

ABSTRACT:

Background

Phenylalanine hydroxylase (PAH) is the enzyme that metabolizes phenylalanine, an essential amino acid required for catecholamine synthesis. Rare mutations in PAH are causal to phenylketonuria (PKU), an autosomal recessive disease characterized by neuropsychiatric symptoms including intellectual disability. We examined whether there is an association between common single nucleotide polymorphisms (SNPs) of PAH and memory performance in the Japanese population.

Methods

Subjects were 599 healthy adults (166 males and 433 females; mean age 43.8 ± 15.5 years). The Wechsler Memory Scale-Revised (WMS-R) was administered to all participants to assess memory performance. Genotyping was performed for 6 selected tagging SNPs of PAH (rs1722387, rs3817446, rs1718301, rs2037639

SUBMITTER: Teraishi T 

PROVIDER: S-EPMC3733818 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature