Abstract
Brazilian population is one of the largest consumers of pesticides in the world, especially the Central Brazil population. Thus, the aim of this study was to evaluate the frequency of genotypes, alleles, haplotypes, and the linkage disequilibrium (DL) of the OGG1 gene in rural workers from Central Brazil, comparing with the populations of the 1000 genome. Three hundred thirty healthy individuals not related and randomly selected were included in this study. We obtained genomic DNA from peripheral blood lymphocytes. The 748-bp OGG1 gene was amplified by PCR and sequenced. Of the 330 individuals, 215 (65%) were males and 115 (35%) were females. There were no differences in the distribution of the rs1052133 and rs293795 with age and sexes. Haplotypes containing only conserved T/C alleles were the most common in our population. The frequency of the mutant alleles of rs1052133 and rs293795, in our population, was 20% and 30%, respectively, and it is noteworthy, worldwide, that mutant alleles are commonly associated to an increased risk for the development of cancer, specially due to direct or indirect contact to pesticides, as occurs in rural workers of Central Brazil population.
Similar content being viewed by others
References
Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA (2010) A map of human genome variation from population-scale sequencing. Nature 467(7319):1061–1073. https://doi.org/10.1038/nature09534
Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56–65. https://doi.org/10.1038/nature11632
Alanazi M, Pathan AAK, Shaik JP, Alhadheq A, Khan Z, Khan W, Parine NR (2016) The hOGG1 Ser326Cys gene polymorphism and breast cancer risk in Saudi population. Pathol Oncol Res 23(3):525–535. https://doi.org/10.1007/s12253-016-0146-6
Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263–265. https://doi.org/10.1093/bioinformatics/bth457
Carneiro FF, Silva Augusto LG, Rigotto RM, Friedrich K, Búrigo AC (2015) Dossiê Abrasco: um alerta sobre os impactos dos agrotóxicos na saúde. Rio de Janeiro: EPSJV; São Paulo: Expressão Popular
Duan W-X, Hua RX, Yi W, Shen LJ, Jin ZX, Zhao YH, Yi DH, Chen WS, Yu SQ (2012) The association between OGG1 Ser326Cys polymorphism and lung cancer susceptibility: a meta-analysis of 27 studies. PLoS One 7:e35970. https://doi.org/10.1371/journal.pone.0035970
Espitia-Pérez L, Sosa MQ, Arteaga SS, León-Mejía G, Hoyos-Giraldo LS, Brango H, Kvitko K, da Silva J, Henriques JAP (2016) Polymorphisms in metabolism and repair genes affects DNA damage caused by open-cast coal mining exposure. Mutat Res Genet Toxicol Environ Mutagen 808:38–51. https://doi.org/10.1016/j.mrgentox.2016.08.003
Franco FC, Alves AA, Godoy FR, Avelar JB, Rodrigues DD, Pedroso TM, da Cruz AD, Nomura F, de Melo e Silva D (2016) Evaluating genotoxic risks in Brazilian public health agents occupationally exposed to pesticides: a multi-biomarker approach. Environ Sci Pollut Res Int 23(19):19723–19734. https://doi.org/10.1007/s11356-016-7179-y
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296(5576):2225–2229. https://doi.org/10.1126/science.1069424
Giolo SR, Soler JMP, Greenway SC, Almeida MAA, de Andrade M, Seidman JG, Seidman CE, Krieger JE, Pereira AC (2012) Brazilian urban population genetic structure reveals a high degree of admixture. Eur J Hum Genet 20(1):111–116. https://doi.org/10.1038/ejhg.2011.144
Godoy FR, Costa EO, da Silva Reis AA, Batista MP, de Melo AV, Gonçalves MW, Cruz AS, de Araújo Melo CO, Minasi LB, Ribeiro CL, da Cruz AD, Silva d ME (2014) Do GSTT1 and GSTM1 polymorphisms influence intoxication events in individuals occupationally exposed to pesticides? Environ Sci Pollut Res Int 21(5):3706–3712. https://doi.org/10.1007/s11356-013-2349-7
Guo SW, Thompson EA (1992) Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48(2):361–372
Hall TA (1999) BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symposium Series 41:95–98
Hansen R, Saebo M, Furu C, Andersen B, Christian P, Marie I, Johnson E (2005) GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer. Cancer Lett 229(1):85–91. https://doi.org/10.1016/j.canlet.2005.04.019
Karahalil B, Emerce E, Koçer B, Han S, Alkis N, Karakaya AE (2008) The association of OGG1 Ser326Cys polymorphism and urinary 8-OHdG levels with lung cancer susceptibility: a hospital-based case-control study in Turkey. Arh Hig Rada Toksikol 59:241–250. https://doi.org/10.2478/10004-1254-59-2008-1924
Khayat CB, Costa EO, Gonçalves MW, da Cruz e Cunha DM, da Cruz AS, de Araújo Melo CO, Bastos RP, da Cruz AD, de Meloe Silva D (2013) Assessment of DNA damage in Brazilian workers occupationally exposed to pesticides: a study from Central Brazil. Environ Sci Pollut Res Int 20(10):7334–7340. https://doi.org/10.1007/s11356-013-1747-1
Li H, Hao X, Zhang W, Wei Q, Chen K (2008) The hOGG1 Ser326Cys polymorphism and lung cancer risk: a meta-analysis. Cancer Epidemiol Biomark Prev 17(7):1739–1745. https://doi.org/10.1158/1055-9965.EPI-08-0001
Li Z, Guan W, Li MX, Zhong ZY, Qian CY, Yang XQ, Liao L, Li ZP, Wang D (2011) Genetic polymorphism of DNA base-excision repair genes (APE1, OGG1 and XRCC1) and their correlation with risk of lung cancer in a chinese population. Arch Med Res 42:226–234. https://doi.org/10.1016/j.arcmed.2011.04.005
Lischer HEL, Excoffier L (2012) PGDSpider: an automated data conversion tool for connecting population genetics and genomics programs. Bioinformatics 28:298–299. https://doi.org/10.1093/bioinformatics/btr642
Lu J, Yin Y, Du M, Ma G, Ge Y, Zhang Q, Zhang Z (2016) The association analysis of hOGG1 genetic variants and gastric cancer risk in a Chinese population. Oncotarget 6(31):31255–31262. https://doi.org/10.18632/oncotarget.11802
Lwanga SK, Lemeshow S (1991) Sample size determination in health studies: a practical manual. World Health Organization, Geneva
Mitra AK, Singh SV, Garg VK, Sharma M, Chaturvedi R, Rath SK (2011) Protective association exhibited by the single nucleotide polymorphism (SNP) rs1052133 in gene human 8-oxoguanine DNA glycosylase (hOGGI) with the risk of squamous cell carcinomas of the head and neck (SCCHN) among north Indians. Indian J Med Res 133:605–12
Price BD, Andrea ADD (2014) Chromatin remodeling at DNA double strand breaks. Cell 152(6):1344–1354. https://doi.org/10.1016/j.cell.2013.02.011
Qin ZS, Niu T, Liu JS (2002) Partition-ligation EM algorithm for haplotype inference with single nucleotide polymorphisms. Am J Hum Genet 71(5):1242–1247. https://doi.org/10.1086/344207
Raymond M, Rousset F (1995) GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J Heredity 86:248–249. https://doi.org/10.1111/j.1471-8286.2007.01931.x
Rohr P, da Silva J, Erdtmann B, Saffi J, Guecheva TN, Antônio Pêgas Henriques J, Kvitko K (2011) BER gene polymorphisms (OGG1 Ser326Cys and XRCC1 Arg194Trp) and modulation of DNA damage due to pesticides exposure. Environ Mol Mutagen 52(1):20–27. https://doi.org/10.1002/em.20562
Stephens M, Donnelly PA (2003) A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162–1169. https://doi.org/10.1086/379378
Stephens M, Smith N, Donnelly PA (2000) New statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978–989. https://doi.org/10.1086/319501
Wright S (1968) Evolution and the genetics of populations: the theory of gene frequencies. University of Chicago, Chicago
Zhenquan J, Misra HP (2007) Reactive oxygen species in in vitro pesticide-induced neuronal cell (SH-SY5Y) cytotoxicity: role of NFkappa B and caspase-3. Free Radic Biol Med 42(2):288–298. https://doi.org/10.1016/j.freeradbiomed.2006.10.047
Acknowledgments
AAA, HFN, DMS, and TNS thank CAPES and CNPq for their fellowships. The authors also thank FAPEG DOCFIX Edital 04/2014 (Process: 201510267000196). We finally thank the individuals that voluntarily participated of this study.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
All participants provided their informed consent and the study was approved by the Human Research Ethics Committee of the Universidade Federal de Goiás (Protocol 165.735). Demographic and clinical data were collected for a statistical survey.
Additional information
Responsible editor: Philippe Garrigues
Electronic supplementary material
S1.
Electropherogram of three distinct aligned samples. The red arrow indicates rs 1052133. (A) Homozygous genotype of the G allele (B) Heterozygote C/G. (C) Homozygous genotype of ancestral C allele. (JPG 68 kb)
S2.
Electropherogram of three distinct aligned samples. The red arrow indicates rs 293795. (A) Homozygous genotype of the A allele. (B) Heterozygote A/G. (C) Homozygous genotype of the altered G allele. (JPG 56 kb)
Rights and permissions
About this article
Cite this article
de Melo e Silva, D., Alves, A.A., Nunes, H.F. et al. Evaluating the OGG1 rs1052133 and rs293795 polymorphisms in a sample of rural workers from Central Brazil population: a comparative approach with the 1000 Genomes Project. Environ Sci Pollut Res 25, 25612–25617 (2018). https://doi.org/10.1007/s11356-018-2766-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11356-018-2766-8