Ethnic differences of two non-synonymous single nucleotide polymorphisms in CDA gene.
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.
Sugiyama
Emiko
E
Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo 158-8501, Japan.
Lee
Su-Jun
SJ
Lee
Sang Seop
SS
Kim
Woo-Young
WY
Kim
Su-Ryang
SR
Tohkin
Masahiro
M
Hasegawa
Ryuichi
R
Okuda
Haruhiro
H
Kawamoto
Manabu
M
Kamatani
Naoyuki
N
Sawada
Jun-Ichi
J
Kaniwa
Nahoko
N
Saito
Yoshiro
Y
Shin
Jae-Gook
JG
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
D000964:Antimetabolites, Antineoplastic; D018501:Antirheumatic Agents; D003561:Cytarabine; D003841:Deoxycytidine; D003564:Cytidine Deaminase; D000093542:Gemcitabine