Abstract
DNASE1, the encoding gene of deoxyribonuclease I (DNase I), exhibits polymorphisms, including a single nucleotide polymorphism (SNP A2317G) in exon 8 and a 56 bp variable number of tandem repeat, designated as HumDN1 in intron 4. Several different ethnic population studies have revealed both A2317G and HumDN1 demonstrate genetic heterogeneity in the worldwide distribution. Recently, G2317 allele was proposed as an independent risk factor for myocardial infarction in Japanese population. In the present study, we identified A2317G and HumDN1 genotypes in 402 unrelated healthy Han Chinese individuals. At the same time, the impact of different genotypes and diplotypes of DNase I on plasma lipids levels and fasting blood glucose was also illuminated. Polymerase chain reaction and restriction fragment length polymorphism were used for the detection of HumDN1 and A2317G polymorphisms. Plasma glucose and lipids were measured in fasting state by biochemical methods. Three genotypes of A2317G and 9 genotypes of HumDN1 were detected in Han Chinese population. Among them, the most predominate alleles were A2317 (frequency = 53.6%) and HumDN1*3 (frequency = 47.4%) respectively. Linkage disequilibrium between A2317G and HumDN1 polymorphisms was also observed (D′ = 0.717). Haplotype A-3, presented in frequency of 46.5%, was most common. Compared to other ethnic populations, Han Chinese had its own unique DNase I gene distribution characteristics. As for the influence of DNase I gene polymorphisms on lipids and glucose levels, no association was found between either genotype or diplotype and these parameters. (all P > 0.05). Results obtained in this study could be used for anthropological investigation, probing into relations between DNase I gene and diseases.
Similar content being viewed by others
References
Kishi K, Yasuda T, Awazu S et al (1989) Genetic polymorphism of human urine deoxyribonuclease I. Hum Genet 81:295–297
Iida R, Yasuda T, Aoyama M et al (1997) The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism. Electrophoresis 18:1936–1939
Yasuda T, Takeshita H, Iida R et al (1999) A new allele, DNASE1*6, of human deoxyribonuclease I polymorphism encodes an Arg to Cys substitution responsible for its instability. Biochem Biophys Res Commun 260:280–283
Yasuda T, Iida R, Ueki M et al (2004) A novel 56-bp variable tandem repeat polymorphism in the human deoxyribonuclease I gene and its population data. Legal Med 6:242–245
Takeshita H, Yasuda T, Nakashima Y et al (2001) Geographical north-south decline in DNase I allele 2 in Japanese populations. Hum Biol 73:129–135
Fujihara J, Hieda Y, Takayama K et al (2005) Analysis of genetic polymorphism of deoxyribonuclease I in Ovambo and Turk populations using a genotyping method. Biochem Genet 43:629–635
Fujihara J, Yasuda T, Shiwaku K et al (2006) Frequency of a single nucleotide (A2317G) and 56-bp variable number of tandem repeat polymorphisms within the deoxyribonuclease I gene in five ethnic populations. Clin Chem Lab Med 44:1188–1191
Takeshita H, Fujihara J, Soejima M et al (2007) Extremely high prevalence of DNASE1*1 allele in African populations. Cell Biochem Funct 3: [Epub ahead of print]
Yasuda T, Kawai Y, Ueki M et al (2005) Clinical applications of DNase I, a genetic marker already used for forensic identification. Legal Medicine 7:274–277
Kawai Y, Yoshida M, Arakawa K et al (2004) Diagnostic use of serum deoxyribonuclease I as a novel early-phase marker in acute myocardial infarction. Circulation 109:2398–2400
Arakawa K, Kawai Y, Kumamoto T et al (2005) Serum deoxyribonuclease I activity can be used as a sensitive marker for detection of transient myocardial ischemia induced by percutaneous coronary intervention. Eur Heart J 26:2375–2380
Fujihara J, Takatsuka H, Kataoka K et al (2007) Two deoxyribonuclease I gene polymorphisms and correlation between genotype and its activity population. Leg Med (Tokyo) 21:[Epub ahead of print]
Kumamoto T, Kawai Y, Arakawa K et al (2006) Association of Gln222Arg polymorphism in the deoxyribonuclease I (DNase I) gene with myocardial infarction in Japanese patients. Eur Heart J 27:2081–2087
Antoniades C, Tousoulis D, Vasiliadou C et al (2005) Genetic polymorphism on endothelial nitric oxide synthase affects endothelial activation and inflammatory response during the acute phase of myocardial infarction. J Am Coll Cardiol 46:1101–1109
Tsai CT, Hwang JJ, Ritchie MD et al (2006) Renin-angiotensin system gene polymorphisms and coronary artery disease in a large angiographic cohort: Detection of high order gene-gene interaction. Atherosclerosis 20: [Epub ahead of print]
Yang W, Huang W, Su S et al (2006) Association study of ACE2 (angiotensin I-converting enzyme 2) gene polymorphisms with coronary heart disease and myocardial infarction in a Chinese Han population. Clin Sci (Lond) 111:333–340
Kharrazi H, Vaisi Raygani A, Sabokroh AR et al (2006) Association between apolipoprotein E polymorphism and coronary artery disease in the Kermanshah population in Iran. Clin Biochem 9:613–616
Koch W, Hoppmann P, Schomig A et al (2007) Apolipoprotein E gene epsilon2/epsilon3/epsilon4 polymorphism and myocardial infarction: Case-control study in a large population sample. Int J Cardiol 10: [Epub ahead of print]
Yasuda T, Nadano D, Tenjo E et al (1995) Genotyping of human deoxyribonuclease I polymorphism by the polymerase chain reaction. Electrophoresis 16:1899–1993
Shi YY, He L (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 15:97–98
Yasuda T, Nadano D, Iida R et al (1995) Chromosomal assignment of the human deoxyribonuclease I gene, DNASE1(DNL1), to band 16p13.3 using the polymerase chain reaction. Cytogenet Cell Genet 70:221–223
Tsutsumi S, Asao T, Nagamachi Y et al (1998) Phenotype 2 of deoxyribonuclease I may be used as a risk factor for gastric carcinoma. Cancer 82:1621–1625
Tsutsumi S, Takeshita H, Yasuda T et al (2000) Association of the DNase I phenotype 2 with colorectal carcinoma risk in a Japanese population. Cancer Lett 159:109–112
Bodaño A, González A, Ferreiros-Vidal I et al (2006) Association of a non-synonymous single-nucleotide polymorphism of DNASE1 with SLE susceptibility. Rheumatology 45:819–823
Mannherz HG, Peitsch MC, Zanotti S et al (1995) A new function for an old enzyme: the role of DNase I in apoptosis. Curr Top Microbiol Immuno 198:161–174
Oliveri M, Daga A, Lunardi C et al (2004) DNase I behaves as a transcription factor which modulates Fas expression in human cells. Eur J Immunol 34:273–279
Mizuno H, Sato H, Sakata Y et al (2005) Impact of atherosclerosis-related gene polymorphisms on mortality and recurrent events after myocardial infarction. Atherosclerosis 185:400–405
Yusuf S, Hawken S, Ounpuu S et al (2004) Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study. Lancet 364:937–952
Hu DY, Pan CY, Yu JM et al (2006) The relationship between coronary artery disease and abnormal glucose regulation in China: the China Heart Survey. Eur Heart J 27:2573–2579
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Ni, Y., Zhang, J. & Sun, B. Deoxyribonuclease I gene polymorphism in Han Chinese population: frequency and effect on glucose and lipid parameters. Mol Biol Rep 35, 479–484 (2008). https://doi.org/10.1007/s11033-007-9110-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11033-007-9110-6