Frequency of M287T/AS3MT Single Nucleotide Polymorphism in an Iranian Population
-
Fatemeh Farhid
,
Fatemeh Nadali
,
Bahram Chahardouli
,
Saeed Mohammadi
,
Shahrbano Rostami
,
Kamran Alimoghaddam
,
Ardeshir Ghavamzadeh
Abstract
Background: To determine the frequency of the single nucleotide polymorphism M287T in exon 9 of the AS3MT gene in Iranian population and to assess the difference in allele frequencies with other ethnicities.
Subjects and Methods: Genotyping analysis was performed on 150 healthy subjects using the PCR-RFLP assay. We used chi-square analysis to check the deviation from Hardy–Weinberg equilibrium and compare of the observed genotype frequencies in various ethnic. The level of statistical significance was considered as p<0.05.
Results: The homozygous CC, homozygous TT and heterozygous CT genotypes were observed in 2%, 80% and 18% of participated individuals. The SNP rs11191439 passed the Hardy-Weinberg equilibrium chi-squared test with p-value>0.05 and had a minor allele frequency (MAF)>5%.
Conclusion: Iranians are genetically very similar to Caucasian and African individuals and they are considerably different from other East Asians including Koreans, Chinese and Japanese individuals. Due to genetic polymorphisms can contribute to the variability in AS3MT activity; they may contribute to interindividual as well as intra-ethnic differences in response to the detoxification of arsenic.
García-Esquinas E, Pollán M, Umans JG, et al. Arsenic exposure and cancer mortality in a US-based prospective cohort: the strong heart study. Cancer Epidemiol Biomarkers Prev. 2013; 22(11):1944-53.
Martinez VD, Vucic EA, Becker-Santos DD, et al. Arsenic exposure and the induction of human cancers.J Toxicol. 2011; 2011: 431287.
Huq SM, Joardar JC, Parvin S, et al. Arsenic contamination in food-chain: transfer of arsenic into food materials through groundwater irrigation. J Health Popul Nutr. 2006. 24(3):305-16.
Rahman M , Vahter M, Sohel N, et al. Arsenic exposure and age and sex-specific risk for skin lesions: a population-based case-referent study in Bangladesh. Environ Health Perspect. 2006; 114(12):1847-52.
Ferreccio C, González C, Milosavjlevic V, et al. Lung cancer and arsenic concentrations in drinking water in Chile. Epidemiology.2000; 11(6):673-9.
Gruber JF, Karagas MR, Gilbert-Diamond D, et al. Associations between toenail arsenic concentration and dietary factors in a New Hampshire population. Nutr J. 2012; 11(1):45.
Wu F, Jasmine F, Kibriya MG, et al. Interaction between arsenic exposure from drinking water and genetic susceptibility in carotid intima-media thickness in Bangladesh. Toxicol Appl Pharmacol. 2014; 276(3):195-203.
Rodrigues EG, Kile M, Hoffman E, et al. GSTO and AS3MT genetic polymorphisms and differences in urinary arsenic concentrations among residents in Bangladesh. Biomarkers. 2012; 17(3):240-7.
Fujihara J, Soejima M, Yasuda T, et al. Global analysis of genetic variation in human arsenic (+3 oxidation state) methyltransferase (AS3MT). Toxicol Appl Pharmacol. 2010; 243(3):292-9.
Schläwicke Engström K, Broberg K, Concha G, et al. Genetic polymorphisms influencing arsenic metabolism: evidence from Argentina. Environ Health Perspect. 2007; 115(4):599-605.
Fujihara J, Kunito T, Agusa T, et al. Population differences in the human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene polymorphism detected by using genotyping method. Toxicol Appl Pharmacol.2007; 225(3):251-4.
Lindberg AL, Kumar R, Goessler W, et al. Metabolism of low-dose inorganic arsenic in a central European population: influence of sex and genetic polymorphisms. Environ Health Perspect. 2007; 115(7):1081-6.
Janasik B, Reszka E, Stanislawska M, et al. Biological monitoring and the influence of genetic polymorphism of AS3MT and GSTs on distribution of urinary arsenic species in occupational exposure workers. Int Arch Occup Environ Health. 2015; 88(6):807-18.
Wood TC, Salavagionne OE, Mukherjee B, et al. Human arsenic methyltransferase (AS3MT) pharmacogenetics: gene resequencing and functional genomics studies. J Biol Chem. 2006; 281(11):7364-73.
Agusa T, Iwata H, Fujihara J, et al. Genetic polymorphisms in AS3MT and arsenic metabolism in residents of the Red River Delta, Vietnam. Toxicol Appl Pharmacol. 2009; 236(2): 131-41.
Drobná Z, Waters SB, Walton FS, et al. Interindividual variation in the metabolism of arsenic in cultured primary human hepatocytes. Toxicol Appl Pharmacol. 2004; 201(2):166-77.
Hernández A, Xamena N, Surrallés, et al. Role of the Met(287)Thr polymorphism in the AS3MT gene on the metabolic arsenic profile. Mutat Res. 2008; 637(1-2):80-92.
Fujihara J, Soejima M, Koda Y, et al., Asian specific low mutation frequencies of the M287T polymorphism in the human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene. Mutat Res. 2008; 654(2):158-61.
Chowdhury UK, Biswas BK, Chowdhury TR, et al. Groundwater arsenic contamination in Bangladesh and West Bengal, India. Environ Health Perspect. 2000; 108(5):393-7.
Saber MM, Boroumand M, Behmanesh M. Investigation of CYP2C19 allele and genotype frequencies in Iranian population using experimental and computational approaches. Thromb Res. 2014; 133(2):272-5.
Fazeli Z, Vallian S. Molecular phylogenetic study of the Iranians based on polymorphic markers. Gene. 2013; 512(1):123-6.
Ghavamzadeh A, Alimoghaddam K, Ghaffari SH, et al. Treatment of acute promyelocytic leukemia with arsenic trioxide without ATRA and/or chemotherapy. Ann Oncol. 2006; 17(1):131-4.
Madan V, Shyamsunder P, Han L, et al. Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia. Leukemia. 2016; 30(8):1672-81.
| Files | ||
| Issue | Vol 11, No 1 (2017) | |
| Section | Articles | |
| Keywords | ||
| AS3MT gene Polymorphism Arsenic | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
