Frequency of a single nucleotide (A2317G) and 56-bp variable number of tandem repeat polymorphisms within the deoxyribonuclease I gene in five ethnic populations
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Junko Fujihara
Abstract
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.
Clin Chem Lab Med 2006;44:1188–91.
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©2006 by Walter de Gruyter Berlin New York
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- Multiplexed testing in the autoimmunity laboratory
- Uncertainty calculation for calibrators and controls of laboratory diagnostic assays
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- Apolipoprotein B gene 3′VNTR polymorphism: association with plasma lipids and coronary heart disease in Han Chinese
- Paraoxonase-1 (PON1) activity, but not PON1Q192R phenotype, is a predictor of coronary artery disease in a middle-aged Serbian population
- A modified method of prothrombin time/International Normalised Ratio determination in capillary blood and monitoring oral anticoagulant therapy
- Inhibition of the ubiquitin-proteasome system: a new avenue for atherosclerosis
- Lipid peroxidation and antioxidative status in β-thalassemia major patients with or without hepatitis C virus infection
- Role of serum S100B as a predictive marker of fatal outcome following isolated severe head injury or multitrauma in males
- Preanalytical and analytical variation of surface-enhanced laser desorption-ionization time-of-flight mass spectrometry of human serum
- Effect of nitrogen mustard, a vesicant agent, on lymphocyte energy metabolism
- Partitioning reference values of several Gaussian subpopulations with unequal prevalence – a procedure with computer program support
- Biovariability of plasma adiponectin
- Multicentre evaluation of a new point-of-care test for the determination of NT-proBNP in whole blood
- Innotrac Aio!: a point-of-care or a routine analyzer? Analytical performance and plasma/whole blood comparison
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