Genetic association study between a BamHl polymorphism in exon 1 of the protectin gene and dementia of the Alzheimer's type in a Caucasian population

S. W. Han, C. L. Lendon, A. M. Goate

Research output: Contribution to journalArticlepeer-review

Abstract

Protectin is one of the proteins involved in inhibiting bystander lysis of the membrane attack complex (MAC) and is upregulated in Alzheimer's disease (AD) brain tissue. It localizes to dystrophic neurites, neuropil threads, and neurofibrillary tangles in the AD brain. Given the likely role of the inflammatory response in AD pathology we tested the hypothesis that variation in the protectin gene may modify risk for dementia of the Alzheimer's type (DAT). We developed a PCR assay for an exonic BamHl polymorphism of the protectin gene and tested for genetic association with DAT in a series of 107 DAT patients and 114 age-matched controls. Consistent with a large number of previous studies, the expected association of the ε4 allele of the apolipoprotein E gene and DAT was observed. However, in our sample of Caucasian, sporadic, late onset DAT cases and controls, no association was found between the exonic polymorphism of the protectin gene and DAT, in the sample as a whole or after stratification based on the presence or absence of an ε4 allele. We conclude that variation in the protectin gene does not play a major role in genetic risk for Alzheimer's disease.

Original languageEnglish
Pages (from-to)275-278
Number of pages4
JournalAlzheimer's Research
Volume3
Issue number6
StatePublished - 1997
Externally publishedYes

Keywords

  • ApoE
  • Dementia of the alzheimer's type
  • Genetic association study
  • Late onset
  • Protectin

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