Identification of CHRNA5 rare variants in African-American heavy smokers.

ABSTRACT:

Background

The common CHRNA5 mis-sense coding single-nucleotide polymorphism (SNP) rs16969968:G>A (D398N) has repeatedly been shown to confer risk for heavy smoking in individuals who carry the 'A' allele (encoding the 398N amino acid). The mis-sense SNP has a minor allele frequency of ∼40% in European-Americans, but only ∼7% in African-Americans (http://www.ncbi.nlm.nih.gov/projects/SNP/). We reasoned that there might be other mis-sense variants among African-Americans that could confer the heavy smoking phenotype (defined here as ≥20 cigarettes per day), perhaps in a manner similar to that of the D398N polymorphism in Europeans.

Materials and methods

As such, we resequenced 250 African-American heavy smokers, most of whom were homozygous 'G' at rs16969968:G>A (minor allele

SUBMITTER: Doyle GA 

PROVIDER: S-EPMC4015337 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature