Japanese population

YAMAMOTO S, SOBUE T, SASAKI S, KOBAYASHI M, ARAI Y, UEHARA M, ADLERCREUTZ H, WATANABE S, TAKAHASHi T, iiTOi Y, IWASE Y, AKABANE M and TSUGANE s (2001) Vahdity and reproducibihty of a self-administered food-frequency questionnaire to assess isoflavone intake in a Japanese population in comparison with dietary records and blood and urine isoflavones. JNutr. 131 (10) 2741-7. 

Hizawa N, Yamaguchi E, Furuya K, Jinushi E, Ito A, Kawakami Y. The role of the C-C chemokine receptor 2 gene polymorphism V64I (CCR2-64I) in sarcoidosis in a Japanese population. Am J Respir Crit Care Med 1999 159(6) 2021-2023. 

Beyond phase I metabolism, clozapine is a substrate for UTT1A4 and polymorphisms have already been identified in Japanese populations (Mori et al., 2005). Presumably other populations will display some variability. How this relates to everyday clinical practice is as yet unknown. 

Fukuda, T. et al. (2000). The impact of the CYP2D6 and CYP2C19 genotypes on venlafaxine pharmacokinetics in a Japanese population. Eur. J. Clin. Pharmacol, 56, 175-80. 

Although this finding is consistent with previous studies in Caucasians (Bondy, Baghai, Zill etal, 2002 Zill etal, 2000 Siffert, 2003), it differs from a study on a Japanese population (Kunugi, Kato, Fukuda etal, 2002). 

Obana, A., T. Hiramitsu et al. (2008). Macular carotenoid levels of normal subjects and age-related maculopathy patients in a Japanese population. Ophthalmology 115(1) 147-157. 

Nozawa, T., Nakajima, M., Tamai, I., Noda, K., Nezu, J., Sai, Y., Tsuji, A., Yokoi, T., Genetic polymorphisms of human organic anion transporters OATP-C (SLC21A6) and OATP-B (SLC21A9) allele frequencies in the Japanese population and functional analysis, J. Pharmacol. Exp. Ther. 2002, 302, 804-813. 

Ohnishi Y, Tanaka T, Yamada R, Sue-matsu K, Minami M, Fujii K, Hoki N, Kodama K, Nagata S, Hayashi T, Ki-noshita N, Sato H, Sato H, Kuzuya T, Takeda H, Hori M, Nakamura Y. Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population. Hum Genet 2000 106 288-292. 

Ando Y, Chida M, Nakayama K et al. The UGT1A1 28 allele is relatively rare in a Japanese population. Pharmacogenetics 1998 8 357-360. 

A promoter polymorphism at bp -361 [49, 50] affects promoter function. The G-allele is more active in H4IIE-C3 cells than the A-allele [49]. In the Japanese population, this polymorphism is in linkage disequilibrium with the structural polymorphism the inactive variant ALDH2 2 allele is more frequently associated with the G promoter allele [50]. Unlike the structural polymorphism, this promoter polymorphism is found in a wide variety of populations, including North-Ameri-can Caucasians and African Americans [49,50]. This makes it of possible pharma-cogenetic importance in affecting the risk for alcoholism or alcohol effects. 

Ikeuchi, T., Takano, H., Koide, R. et al Spinocerebellar ataxia type 6 CAG repeat expansion in alA voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann. Neurol 42 879-884,1997. 

Kiyohara, C., Nakanishi, Y., Inutsuka, S., Takayama, K., Hara, N., Motohiro, A., Tanaka, K., Kono, S. and Hirohata, T. (1998) The relationship between CYP1A1 aryl hydrocarbon hydroxylase activity and lung cancer in a Japanese population. Pharmacogenetics, 8 (4), 315-323. 

A2. Abe, A., and Noma, A., Studies on apolipoprotein(a) phenotypes. Part 1. Phenotype frequencies in a healthy Japanese population. Atherosclerosis (Shannon. Irel.) 96, 1-8 (1992). 

Studies on particular organophosphates are currently being conducted by EPA to substantiate the findings that these organophosphates, including disulfoton, are associated with the development of myopia in humans, as reported in Japanese populations (Dementi 1994). 

Hu, J., Miyatake, F., Aizu, Y et al. (1999) Angiotensin-converting enzyme genotype is associated with Alzheimer disease in the Japanese population. Neurosci. Lett., 277, 65-67. 

Chronic exposure to high levels of cadmium in food has caused bone disorders including osteoporosis and osteomalacia. Long-term ingestion of water, beans, and rice contaminated with cadmium by a Japanese population was associated with a crippling condition, Itai-Itai disease. The affliction is characterized by pain in the back and joints, osteomalacia, bone fractures, and occasional renal failure, and it most often affected women with multiple risk factors such as multiparity and poor nutrition. ... 

Franchini L, Serretti A, Gasperini M, Smeraldi E (1998) Familial concordance of fluvoxamine response as a tool for differentiating mood disorder pedigrees. J Psychiatr Res 32 255-259 Fukuda T, Nishida Y, Zhou Q, Yamamoto I, Kondo S, Azuma J (2000) The impact of the CYP2D6 and CYP2C19 genotypes on venlafaxine pharmacokinetics in a Japanese population. Fur J Clin Pharmacol 56 175-180... 

Yamaguehi K, Aral Y, Kanda Y et al. Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxieity to 5-Fluorouracil. Jpn J Cancer Res 2001 92 337-342. 

Regarding the haplotypes covering exons 25 (Block C), the haplotypes harboring three linked SNPs in the 3 -UTR (1813C>T, 1941 C>G and 2042 C>G) were originally identified in the Japanese population and named IB (38). The frequency of IB was much higher in African-Americans (18.3%) and Caucasians (15.7%) subjects than in the Japanese (9.7%) (39). 

Saeki M, Saito Y, Jinno Ft et al. Haplotype structures of the UGTIA gene complex in a Japanese population. Pharmacogenomics J2006 6 63-75. 

Sai K, Kaniwa N, Itoda M et al. Haplotype analysis of ABCBl/MDRl blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan. Pharmacogenetics 2003 13 741-757. 

In another cohort study of a Japanese population, researcher surveyed more than 8000 individuals over 40 years of age on their living habits, including daily consumption of green tea. Results found a negative association between green tea consumption and cancer incidence, especially among females drinking more than 10 cups per day [212]. 

Another oxidation reaction, which shows variation in human populations, is the oxidation of ethanol. This has been shown to be significantly lower in Canadian Indians compared with Caucasians, and thus the Indians are more susceptible to the effects of alcoholic drinks. The rate of metabolism in vivo in Indians is 0.101 g kg-1 hr-1 compared with 0.145 g kg-1 hr-1 in Caucasians. This seems to be due to variants in alcohol dehydrogenase, although differences in aldehyde dehydrogenase may also be involved. Variants of alcohol dehydrogenase resulting in increased metabolism have also been described within Caucasian and Japanese populations. 

Human polymorphisms in several enzymes involved in toluene metabolism are known. In Mongoloid populations, deficiency in the low form of aldehyde dehydrogenase H2 (ALDH2) is common approximately half of the Japanese population lacks this enzyme. In ALDH2-deficient exposed workers, an increased level of benzyl alcohol was found, but benzaldehyde was not detectable urinary excretion of hippurate was decreased in the deficient individuals. The CYPlAl polymorphism, alcohol consumption and smoking were all associated with decreased hippurate excretion, but the interdependence was too complex to allow detailed conclusions on the mechanisms to be drawn (Kawamoto et al., 1995). 

The immunological predisposition to thyroid disorders has been studied in 17 of 439 Japanese patients who had symptomatic autoimmune thyroid disorders during interferon alfa treatment (521). There was a significantly higher incidence of the human leukocyte antigen (HLA)-A2 hap-lotype compared with the general Japanese population (88 versus 41%), suggesting that HLA-A2 is a possible additional risk factor for the development of interferon alfa-induced autoimmune thyroid disease. 

---