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1. Glutathione S-transferase class omega (GSTO) 1 and 2 are members of the glutathione-S-transferase family, which uses glutathione in the process of the biotransformation of drugs, xenobiotics and oxidative stress. Associations with the age-at-onset of Alzheimer's and Parkinson's diseases have been shown in the genetic polymorphism of GSTO1 and GSTO2. 2. In the present study, the frequencies of GSTO1*A140D and GSTO2*N142D in Ovambos (n = 163), Turks (n = 194), Mongolians (n = 243) and Japanese (n = 102) were investigated and compared with findings from other studies. Detection of these single nucleotide polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism analysis. 3. The allele frequencies of these polymorphisms in Ovambos, Turks, Mongolians and Japanese were 0.040, 0.085, 0.128 and 0.108, respectively, for GSTO1*A140D and 0.583, 0.219, 0.173 and 0.216, respectively, for GSTO2*N142D. Ovambos showed the lowest allele frequency of GSTO1*A140D. Conversely, Africans, including Ovambos, showed higher allele frequencies of GSTO2*N142D than Caucasians and Asians. 4. The existence of a certain genetic heterogeneity in the worldwide distribution of these two polymorphisms is revealed in the present study.

Human arsenic (+3 oxidation state) methyltransferase (AS3MT) is known to catalyze the methylation of arsenite, and intronic single-nucleotide polymorphisms (SNPs: G7395A, G12390C, T14215C, T35587C, and G35991A) in the AS3MT gene were shown to be related to inter-individual variation in the arsenic metabolism. In the present study, the genotyping for these SNPs was developed using the polymerase chain reaction and restriction fragment length polymorphism technique. Applying this method, the genotype distribution among the Ovambo, Turkish, Mongolian, Korean, and Japanese populations was investigated, and our results were compared with those from other studies. G7395, G12390, T35587, and A35991 were predominant among the five populations in our study. However, a previous study in Argentina, C12390 and G35991 showed the highest allele frequency among the eight populations studied in other studies. The dominant allele of T14215C differed among populations: the T14215 allele was predominant in Argentina, the allele frequency of C14215 was higher than that of T14215 among Turks, Mongolians, Europeans, and American ancestry. In Korea and Japan, similar allele frequencies were observed in T14215 and C14215. Higher allele frequencies were observed in haplotype G7395/G12390/C14215/T35587 with frequencies of 0.40 (Turks), 0.28 (Mongolians), and 0.23 (Koreans). On the other hand, the allele frequency for G7395/G14215/T35587/A35991 was the highest among the Ovambos (0.32), and the frequency for G7395/G12390/C35587/G35991 was the highest among the Japanese (0.27). It is noteworthy that the Japanese haplotype differs from that of the Koreans and Mongolians, which indicates the importance of investigating other intronic polymorphisms in AS3MT, especially in Asians.

Background: Many single-nucleotide polymorphisms (SNPs) have been identified in the coding region of the FUT2 locus, which encodes secretor type alpha(1,2)fucosyltransferase. These SNPs are highly population-specific., Study Design and Methods: The 1121-bp polymerase chain reaction (PCR) product containing the whole FUT2 coding region in three human populations, Ovambos (n = 74), Turks (n = 70), and Mongolians (n = 118), was sequenced. The haplotypes consisting of novel SNPs were determined by sequencing cloned inserts, and the haplotypes consisting of already reported SNPs were inferred by free computer software (PHASE). The functional significance of novel SNPs by transient expression study was also examined., Results: Twenty-four SNPs were found including seven novel SNPs (i.e., 4G > A, 244G > A, 442C > A, 489G > A, 569G > A, 665G > A, and 950C > T). A transient expression study suggested that the 244G > A, 569G > A, and 950C > T SNPs are enzyme-inactivating mutations., Conclusion: This study identified 24 SNPs in the FUT2 gene, of which 7 were novel. The frequencies of alleles and genotypes were determined in Ovambos, Turks, and Mongolians. The allelic composition of each population was similar to those of geographically closer populations.

Arsenic poisoning from drinking groundwater is a serious problem, particularly in developing Asian countries. Human arsenic (+3 oxidation state) methyltransferase (AS3MT) is known to catalyze the methylation of arsenite. Recently, a single nucleotide polymorphism (SNPs; rs17885947, M287T (T860C)) in the AS3MT gene was shown to be related to enzyme activity and considered to be related to genetic susceptibility to arsenic. In the present study, a useful genotyping method for M287T was developed using the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) technique. Applying this method, the genotype distribution of M287T in Ovambo (n=185), Turkish (n=191), Mongolian (n=233), Korean (n=200), and Japanese (n=370) populations were investigated. The mutation frequencies in Asian populations were relatively lower than those of African and Caucasian populations, including those from previous studies: the frequencies of mutation in the Mongolian, Korean, and Japanese populations were 0.040, 0.010, and 0.010, respectively. In the course of this study, a PCR-based genotyping method that is inexpensive and does not require specialized equipment was developed. This method could be applied to a large number of residents at risk for arsenic poisoning.

Background: The single nucleotide polymorphism (SNP) at deoxyribonuclease I (DNase I), designated as DNASE1 (NCBI SNP number; 1053874), in exon 8 (A2317G) is considered to be one of the susceptibility genes for gastric and colorectal carcinoma and myocardial infarction. Recently, the presence of a variable number of tandem repeat (VNTR) polymorphisms, designated as HumDN1, in intron 4 was found., Methods: Simultaneous genotyping of the DNASE1 and HumDN1 polymorphisms within the DNase I gene was performed in Ovambo, Turkish, Mongolian, Korean, and Japanese populations., Results: The allele frequencies of the DNASE1 and HumDN1 loci differed among five populations. There was general uniformity for the two polymorphisms in the three Asian populations, but significant differences in genotype distribution between the Ovambo and Turkish populations. The DNASE1 *1 and HumDN1 *3 alleles were found to be the most predominant among the Ovambos. Turks had the highest allele frequency for DNASE1 *2, HumDN1 *4, and HumDN1 *5. A linkage disequilibrium between the single-nucleotide (A2317G) and 56-bp VNTR polymorphisms was revealed in all populations except the Ovambos., Conclusions: This study is the first to demonstrate the simultaneous genotyping of DNASE1 and HumDN1 polymorphisms and reveal the existence of a certain genetic heterogeneity in the worldwide distribution of these two polymorphisms. The combination of the two polymorphisms within a DNase I gene may be potentially useful for clinical purposes and in population genetic studies.

Deoxyribonuclease I (DNase I) polymorphism has been used as a valuable marker in genetic and clinical investigations. Six codominant alleles are known for DNase I, DNASE1*1, *2, *3, *4, and the recently discovered alleles *5 and *6. To detect these two new alleles, we added a new DNase I genotyping method based on both an allele-specific amplification and mismatched polymerase chain reaction (PCR). These methods were used to examine the distribution of DNase I genotypes in unrelated individuals from bloodstains of Ovambo and Turkish populations. The DNASE1*1 allele was found to be most dominant in the Ovambos. In contrast, Turks showed the highest allele frequency for DNASE1*2. This study is the first to demonstrate that there is a certain genetic heterogeneity in the worldwide distribution of DNase I polymorphism using the genotyping method of human DNase I polymorphism with PCR.