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Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses
Author(s) -
Shaunna L. Clark,
Joseph L. McClay,
Daniel E. Adkins,
Karolina A. Åberg,
Gaurav Kumar,
Sri Nerella,
Linying Xie,
Andrew Collins,
James J. Crowley,
Corey R. Quakenbush,
Christopher E. Hillard,
Guimin Gao,
Andrey A. Shabalin,
Roseann E. Peterson,
William E. Copeland,
Judy L. Silberg,
Hermine H. Maes,
Patrick F. Sullivan,
E. Jane Costello,
Edwin J. van den Oord
Publication year - 2015
Publication title -
nicotine and tobacco research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.338
H-Index - 113
eISSN - 1469-994X
pISSN - 1462-2203
DOI - 10.1093/ntr/ntv166
Subject(s) - genome wide association study , genetics , genetic association , biology , meta analysis , computational biology , genotype , medicine , single nucleotide polymorphism , gene
Genome-wide association study meta-analyses have robustly implicated three loci that affect susceptibility for smoking: CHRNA5\CHRNA3\CHRNB4, CHRNB3\CHRNA6 and EGLN2\CYP2A6. Functional follow-up studies of these loci are needed to provide insight into biological mechanisms. However, these efforts have been hampered by a lack of knowledge about the specific causal variant(s) involved. In this study, we prioritized variants in terms of the likelihood they account for the reported associations.

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