Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study.
Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study.
复制标题
DOI：
10.1371/journal.pone.0164134
复制
发表时间：
2016
期刊：
影响因子：
3.7
通讯作者：
Beaty TH
中科院分区：
文献类型：
--
作者：
Begum F;Ruczinski I;Hokanson JE;Lutz SM;Parker MM;Cho MH;Hetmanski JB;Scharpf RB;Crapo JD;Silverman EK;Beaty TH
Many well-powered genome-wide association studies have identified genetic determinants of self-reported smoking behaviors and measures of nicotine dependence, but most have not considered the role of structural variants, such as copy number variation (CNVs), influencing these phenotypes. Here, we included 2,889 African American and 6,187 non-Hispanic White subjects from the COPDGene cohort (http://www.copdgene.org) to carefully investigate the role of polymorphic CNVs across the genome on various measures of smoking behavior. We identified a CNV component (a hemizygous deletion) on chromosome 3p26.1 associated with two quantitative phenotypes related to smoking behavior among African Americans. This polymorphic hemizygous deletion is significantly associated with pack-years and cigarettes smoked per day among African American subjects in the COPDGene study. We sought evidence of replication in African Americans from the population based Atherosclerosis Risk in Communities (ARIC) study. While we observed similar CNV counts, the extent of exposure to cigarette smoking among ARIC subjects was quite different and the smaller sample size of heavy smokers in ARIC severely limited statistical power, so we were unable to replicate our findings from the COPDGene cohort. But meta-analyses of COPDGene and ARIC study subjects strengthened our association signal. However, a few linkage studies have reported suggestive linkage to the 3p26.1 region, and a few genome-wide association studies (GWAS) have reported markers in the gene (GRM7) nearest to this 3p26.1 area of polymorphic deletions are associated with measures of nicotine dependence among subjects of European ancestry.
登录
查看更多内容
影响因子：
2.9
作者：
Scharpf RB;Mireles L;Yang Q;Köttgen A;Ruczinski I;Susztak K;Halper-Stromberg E;Tin A;Cristiano S;Chakravarti A;Boerwinkle E;Fox CS;Coresh J;Linda Kao WH
通讯作者：
Linda Kao WH
影响因子：
2.1
作者：
Begum F;Ruczinski I;Li S;Silverman EK;Cho MH;Lynch DA;Curran-Everett D;Crapo J;Scharpf RB;Parker MM;Hetmanski JB;Beaty TH
通讯作者：
Beaty TH
影响因子：
3.5
作者：
Cho, Michael H.;Castaldi, Peter J.;Silverman, Edwin K.
通讯作者：
Silverman, Edwin K.
影响因子：
3.1
作者：
Li, MD
通讯作者：
Li, MD
影响因子：
11.2
作者：
Saccone NL;Wang JC;Breslau N;Johnson EO;Hatsukami D;Saccone SF;Grucza RA;Sun L;Duan W;Budde J;Culverhouse RC;Fox L;Hinrichs AL;Steinbach JH;Wu M;Rice JP;Goate AM;Bierut LJ
通讯作者：
Bierut LJ