This article is part of the supplement: Genetic Analysis Workshop 13: Analysis of Longitudinal Family Data for Complex Diseases and Related Risk Factors .

Proceedings

Genetic analysis of maximum cigarette-use phenotypes

Nancy L Saccone¹ , Rosalind J Neuman^1,2 , Scott F Saccone² and John P Rice^1,2

¹  Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA

²  Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA

author email corresponding author email

BMC Genetics 2003, 4(Suppl 1):S105doi:10.1186/1471-2156-4-S1-S105

Published:	31 December 2003

Abstract

Background

Using the Framingham Heart Study data set provided for Genetic Analysis Workshop 13, we defined the cigarette-use phenotype M for smokers to be the maximum number of cigarettes-per-day (MAXCIG) reported over the longitudinal course of the study. Adjustments were made for the significant covariates of gender and year of birth, and sib-pair based linkage analysis was performed.

Results

The primary analyses, in which individuals with MAXCIG = 0 were considered to have missing phenotype, resulted in modest linkage evidence, with LOD scores over 1 on chromosomes 5, 9, 13, 14, and 22.

Conclusions

While the results reported here do not indicate definitive evidence for linkage to specific chromosomal regions, future studies may find it useful to include direct assessments of maximum and quantitative cigarette use. In defining and analyzing quantitative or "maximum use" phenotypes, the choice of how to handle individuals with MAXCIG = 0, or alternatively, individuals who are substance-naive, is a crucial one for genetic studies of nicotine and other substance use. In this study, the linkage results vary greatly depending on whether or not these "unexposed" individuals are included in the analyses.