TY - JOUR
T1 - Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence
AU - Hinrichs, Anthony L.
AU - Wang, Jen C.
AU - Bufe, Bernd
AU - Kwon, Jennifer M.
AU - Budde, John
AU - Allen, Rebecca
AU - Bertelsen, Sarah
AU - Evans, Whitney
AU - Dick, Danielle
AU - Rice, John
AU - Foroud, Tatiana
AU - Nurnberger, John
AU - Tischfield, Jay A.
AU - Kuperman, Samuel
AU - Crowe, Raymond
AU - Hesselbrock, Victor
AU - Schuckit, Marc
AU - Almasy, Laura
AU - Porjesz, Bernice
AU - Edenberg, Howard J.
AU - Begleiter, Henri
AU - Meyerhof, Wolfgang
AU - Bierut, Laura J.
AU - Goate, Alison M.
N1 - Funding Information:
The COGA (principal investigator: H. Begleiter; coprincipal investigators: L. Bierut, H. Edenberg, V. Hesselbrock, and B. Porjesz) includes nine different centers where data collection, analysis, and storage take place. The nine sites and principal investigators and coinvestigators are: University of Connecticut (V. Hesselbrock); Indiana University (H. Edenberg, J. Nurnberger Jr., P. M. Conneally, and T. Foroud); University of Iowa (S. Kuperman and R. Crowe); State University of New York Health Science Center at Brooklyn (B. Porjesz and H. Begleiter); Washington University (L. Bierut, A. Goate, and J. Rice); University of California at San Diego (M. Schuckit); Howard University (R. Taylor); Rutgers University (J. Tischfield); and Southwest Foundation (L. Almasy). Zhaoxia Ren serves as the National Institute on Alcohol Abuse and Alcoholism (NIAAA) staff collaborator. This national collaborative study is supported by National Institutes of Health grant U10AA08401 from the NIAAA. W. Meyerhof is the recipient of a grant from the German Science Foundation. In memory of Theodore Reich, coprincipal investigator of COGA since its inception and one of the founders of modern psychiatric genetics, we acknowledge his immeasurable and fundamental scientific contributions to COGA and the field.
PY - 2006/1
Y1 - 2006/1
N2 - A coding single-nucleotide polymorphism (cSNP), K172N, in hTAS2R16, a gene encoding a taste receptor for bitter β-glucopyranosides, shows significant association with alcohol dependence (P = .00018). This gene is located on chromosome 7q in a region reported elsewhere to exhibit linkage with alcohol dependence. The SNP is located in the putative ligand-binding domain and is associated with an increased sensitivity to many bitter β-glucopyranosides in the presence of the N172 allele. Individuals with the ancestral allele K172 are at increased risk of alcohol dependence, regardless of ethnicity. However, this risk allele is uncommon in European Americans (minor-allele frequency [MAF] 0.6%), whereas 45% of African Americans carry the allele (MAF 26%), which makes it a much more significant risk factor in the African American population.
AB - A coding single-nucleotide polymorphism (cSNP), K172N, in hTAS2R16, a gene encoding a taste receptor for bitter β-glucopyranosides, shows significant association with alcohol dependence (P = .00018). This gene is located on chromosome 7q in a region reported elsewhere to exhibit linkage with alcohol dependence. The SNP is located in the putative ligand-binding domain and is associated with an increased sensitivity to many bitter β-glucopyranosides in the presence of the N172 allele. Individuals with the ancestral allele K172 are at increased risk of alcohol dependence, regardless of ethnicity. However, this risk allele is uncommon in European Americans (minor-allele frequency [MAF] 0.6%), whereas 45% of African Americans carry the allele (MAF 26%), which makes it a much more significant risk factor in the African American population.
UR - http://www.scopus.com/inward/record.url?scp=29244451046&partnerID=8YFLogxK
U2 - 10.1086/499253
DO - 10.1086/499253
M3 - Article
C2 - 16385453
AN - SCOPUS:29244451046
SN - 0002-9297
VL - 78
SP - 103
EP - 111
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 1
ER -