title: Ethnic differences of two non-synonymous single nucleotide polymorphisms in CDA gene.
abstract: Cytidine deaminase, encoded by the CDA gene, catalyzes anti-cancer drugs gemcitabine and ara-C into their respective inactive metabolites. In CDA, two functionally significant non-synonymous polymorphisms, 79A>C (Lys27Gln) and 208G>A (Ala70Thr), have been found and their minor allele frequencies (MAFs) were reported in Japanese and Chinese patients and a relatively small numbers of healthy volunteers in Caucasians and Africans. In this study, we determined the MAFs of both polymorphisms in 200 healthy volunteers of Koreans, along with 206 Japanese, 200 Chinese-Americans, 150 Caucasian-Americans and 150 African-Americans to reveal ethnic differences. MAFs of 79A>C (Lys27Gln) were 0.153 in Koreans and 0.327 in Caucasian-Americans, 0.204 in Japanese, 0.155 in Chinese-Americans and 0.087 in African-Americans. MAFs of 208G>A (Ala70Thr) were 0.005 in Koreans and 0.022 in Japanese and the minor allele was not detected in Chinese-Americans, Caucasian-Americans or African-Americans. Thus possibly, MAF of 208G>A in Japanese is likely to be somewhat higher than in Koreans and Chinese-Americans. These data would provide fundamental and useful information for pharmacogenetic studies on cytidine deaminase-catalyzing drugs.
authors.affiliation: Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo 158-8501, Japan.
authors.forename: Emiko
authors.initials: E
authors.lastname: Sugiyama
authors.forename: Su-Jun
authors.initials: SJ
authors.lastname: Lee
authors.forename: Sang Seop
authors.initials: SS
authors.lastname: Lee
authors.forename: Woo-Young
authors.initials: WY
authors.lastname: Kim
authors.forename: Su-Ryang
authors.initials: SR
authors.lastname: Kim
authors.forename: Masahiro
authors.initials: M
authors.lastname: Tohkin
authors.forename: Ryuichi
authors.initials: R
authors.lastname: Hasegawa
authors.forename: Haruhiro
authors.initials: H
authors.lastname: Okuda
authors.forename: Manabu
authors.initials: M
authors.lastname: Kawamoto
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Sawada
authors.forename: Nahoko
authors.initials: N
authors.lastname: Kaniwa
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Saito
authors.forename: Jae-Gook
authors.initials: JG
authors.lastname: Shin
mesh_terms: D001741:Black or African American / Q000235:genetics*; D000483:Alleles; D000964:Antimetabolites, Antineoplastic; D018501:Antirheumatic Agents / Q000494:pharmacology; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics*; D003561:Cytarabine / Q000494:pharmacology; D003564:Cytidine Deaminase / Q000235:genetics* / Q000378:metabolism; D003841:Deoxycytidine / Q000031:analogs & derivatives / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000208:ethnology; D000093542:Gemcitabine
chemical_list: D000964:Antimetabolites, Antineoplastic; D018501:Antirheumatic Agents; D003561:Cytarabine; D003841:Deoxycytidine; D003564:Cytidine Deaminase; D000093542:Gemcitabine