Effect of metallothionein 1A rs8052394 polymorphism on lead, cadmium, zinc, and aluminum levels in factory workers

2020 ◽  
Vol 36 (10) ◽  
pp. 816-822
Author(s):  
Preeti Singh ◽  
Prasenjit Mitra ◽  
Taru Goyal ◽  
Pilla VSN Kiran Kumar ◽  
Shailja Sharma ◽  
...  

Metallothioneins (MTs) are low molecular weight cysteine-rich, metal-binding proteins. They are involved in transportation and detoxification of heavy metals, homeostasis of essential metals, and as antioxidation against reactive oxygen species. Polymorphisms in a gene may increase or decrease the expression efficiency of a gene. This study aimed to determine the genetic effect of MT1A rs8052394 on lead (Pb), cadmium (Cd), zinc (Zn), and aluminum (Al) levels in factory workers. The study included 100 occupationally heavy metal exposed workers from different factories around Jodhpur. Pb, Cd, Zn, and Al levels were measured by atomic absorption spectrophotometry. Individuals with the GG genotype had lower Pb, Zn, and Al levels and higher Cd levels than AA and AG genotypes. The genotyping of MT1A rs8052394 was done by the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). The mean ± standard deviation of Pb, Cd, Zn, and Al was 5.88 ± 13.28 µg/dL, 3.52 ± 1.25 µg/L, 16.45 ± 16.69 µg/dL, and 58.92 ± 58.91 µg/L, respectively. A significant association was found between single-nucleotide polymorphisms (SNPs) of MT1A gene and Cd ( p = 0.006) and with Zn levels ( p = 0.031) but no association found with Pb and Al levels. Among the study population, 78 participants were homozygote major (AA), 19 were heterozygote (AG), and 3 were homozygote minor (GG). The χ 2 test presented the genotypic distribution of all three genotypes under the Hardy–Weinberg equilibrium ( p > 0.05). The frequency of the A allele was 87.5% (175) and the G allele was 12.5% (25). To conclude, polymorphism in rs8052394 of the MT1A gene is associated with increased metal accumulation which in turn may lead to increased toxic effects in the exposed individuals. Factory workers thus, should be more cautious about protecting their health against the toxic effects of heavy metals.

2007 ◽  
Vol 23 (3) ◽  
pp. 161-165 ◽  
Author(s):  
O.E. Orisakwe ◽  
E. Nwachukwu ◽  
H.B. Osadolor ◽  
O.J. Afonne ◽  
C.E. Okocha

Lead, cadmium, nickel and other industrial metals used as part of paint varnishes have been reported to have adverse health implications. An evaluation study on some toxicological effects of occupational exposure to paint, among 25 occupationally exposed artisans and 25 students (control) of Ichi Technical College, Ichi Ekwusigo Local Government Area, Anambra State, Nigeria was carried out. Heavy metals were analysed by atomic absorption spectrophotometry and standard assay procedures were employed for biochemical parameters. The biochemical indices used include serum electrolytes urea, creatinine, alanine (ALT) and aspartate aminotransferases (AST), alkaline phosphatase (ALP), conjugated and total bilirubin. Others include blood lead, serum cadmium and nickel. Our results showed that occupational exposure of humans to paints increased the blood lead (39 ± 4 μg/dL), serum cadmium (13 ± 1 μg/dL) and nickel (63 ± 1 μg/dL), when compared with non-paint factory workers (PFW) lead (17 ± 4 μg/dL), serum cadmium (9 ± μg/dL) and nickel (25 ± 44 μg/dL), significantly at P < 0.05 lower values were observed for serum sodium (138.96 ± 0.58mmol/L), bicarbonate (26.88 ± 0.39 mmol/L), urea (3.15 ± 0.13 mmol/L) and creatinine (80.48 ± 1.04 μmol/L) for paints factory workers when compared with non-paint factory workers, sodium (139.84 ±0.62mmol/L), bicarbonate (26.20 ±0.22mmol/L), urea (3.44 ± 0.11 mmol/L) and creatinine (80.40 ± 1.55 μmol/L); at P > 0.05. The activities of AST (10.36 ± 0.58 μ/L), ALT(8.76 ± 0.47 μ/L) and ALP (47.12 ± 3.33 μ/L) in PFW were slightly elevated compared with non-PFW. Our result indicates that occupational exposure of humans to heavy metals in paints may have long term deleterious effects on liver and renal functions. In conclusion, it should be noted that occupational exposure to cadmium or lead among PFW, may compromise the liver and renal functions in man. Toxicology and Industrial Health 2007; 23: 161—165.


2013 ◽  
Vol 65 (2) ◽  
pp. 475-486
Author(s):  
G. Brajuskovic ◽  
Zorana Nikolic ◽  
A. Kojic ◽  
Dusanka Savic-Pavicevic ◽  
Snezana Cerovic ◽  
...  

Prostate cancer (PCa) is the second most commonly diagnosed cancer among men worldwide. Despite its high incidence rate, the molecular basis of PCa onset and its progression remains little understood. Genome-wide association studies (GWAS) have greatly contributed to the identification of single nucleotide polymorphisms (SNP) associated with PCa risk. Several GWAS identified 8q24 as one of the most significant PCa-associated regions. The aim of this study was to evaluate the association of SNP rs378854 at 8q24 with PCa risk in the Serbian population. The study population included 261 individuals diagnosed with PCa, 257 individuals diagnosed with benign prostatic hyperplasia (BPH) and 106 healthy controls. Data quality analysis yielded results showing deviations from Hardy-Weinberg equilibrium in groups of PCa patients and BPH patients as well as in the control group. There was no significant association between alleles and genotypes of the genetic variant rs378854 and PCa risk in the Serbian population.


2011 ◽  
Vol 38 (6) ◽  
pp. 1033-1038 ◽  
Author(s):  
BAPTISTE COUSTET ◽  
SANDEEP K. AGARWAL ◽  
PRAVITT GOURH ◽  
MICKAEL GUEDJ ◽  
MAUREEN D. MAYES ◽  
...  

Objective.Accumulating evidence shows that shared autoimmunity is critical for the pathogenesis of many autoimmune diseases. Systemic sclerosis (SSc) belongs to the connective tissue disorders, and recent data have highlighted strong associations with autoimmunity genes shared with other autoimmune diseases. To determine whether novel risk loci associated with systemic lupus erythematosus or multiple sclerosis may confer susceptibility to SSc, we tested single-nucleotide polymorphisms (SNP) from ITGAM, ITGAX, and CD58 for associations.Methods.SNP harboring associations with autoimmune diseases, ITGAM rs9937837, ITGAX rs11574637, and CD58 rs12044852, were genotyped in 2 independent cohorts of European Caucasian ancestry: 1031 SSc patients and 1014 controls from France and 1038 SSc patients and 691 controls from the USA, providing a combined study population of 3774 individuals. ITGAM rs1143679 was additionally genotyped in the French cohort.Results.The 4 polymorphisms were in Hardy-Weinberg equilibrium in the 2 control populations, and allelic frequencies were similar to those expected in European Caucasian populations. Allelic and genotypic frequencies for these 3 SNP were found to be statistically similar in SSc patients and controls. Subphenotype analyses for subgroups having diffuse cutaneous subtype disease, specific autoantibodies, or fibrosing alveolitis did not reveal any difference between SSc patients and controls.Conclusion.These results obtained through 2 large cohorts of SSc patients of European Caucasian ancestry do not support the implication of ITGAM, ITGAX, and CD58 genes in the genetic susceptibility of SSc, although they were recently identified as autoimmune disease risk genes.


2020 ◽  
Vol 99 (5) ◽  
pp. 478-482
Author(s):  
N. P. Setko ◽  
A. G. Setko ◽  
Ekaterina V. Bulycheva ◽  
A. V. Tyurin ◽  
E. Yu. Kalinina

Introduction. Changes in the body of children and adolescents aimed at adapting to environmental factors are determined by genetic polymorphism in xenobiotic biotransformation genes, determining the degree of susceptibility of the child’s body to pollutants, which is the basis of modern personalized preventive medicine when managing risks to the health of the child population under the influence of environmental factors. Material and methods. Trace elements, including heavy metals, lead and cadmium, were determined in the hair of 256 practically healthy teenagers by atomic absorption spectrophotometry. Depending on the level of content of the latter, two groups of adolescents were formed to determine six genes of the cytochrome P-450 family. Group 1 consisted of adolescents whose cadmium lead content exceeded the average Russian indices. The second group included adolescents whose heavy metals were above the level of average Russian standards. Results. Studies have shown that in adolescents of the 1st group, compared with the data of adolescents of the 2nd group, an increase in the number of carriers of two mutant alleles at the locus rs 1048943 (gene CYP1A1) is 3.08 times, rs 464621 (gene CYP1A1) is 1. 8 times; locus rs 2069522 (CYP1A2 gene) 3.63 times; locus rs 1799853 (CYP2C9 * 2 gene) 4.5 times; locus rs 1057910 (gene CYP2C9 * 3) 3.8 times and locus rs 2279343 (gene CYP2B6) 4.25 times. Moreover, carriers of two normal alleles in adolescents of the first group at the locus rs 1048943 (gene CYP1A1) were 5.14 times; locus rs 2279343 (CYP2B6 gene) was 6.5 fold less than among adolescents of the 2nd group; and at the locus rs 464621 (gene CYP1A1), rs 2069522 (gene CYP1A2), rs 1799853 (gene CYP2C9 * 2), rs 1057910 (gene CYP2C9 * 3) there were no carriers of normal homozygotes. Conclusion. Group 1 adolescents with heavy metal contamination of the body are carriers significantly in a greater number of pathological mutations in the genes of the cytochrome P-450 detoxification system in comparison with data from group 2 adolescents.


2019 ◽  
Author(s):  
Chem Int

A significant flux of heavy metals, among other toxins, reaches the lungs through smoking. This study reports Cd, Pb, Cu and Zn contents in tobacco of 11 brands of cigarette commonly sold in Ethiopia. The heavy metals were determined by atomic absorption spectrophotometry after wet digestion of cigarette tobacco using HNO3 and H2O2. The concentration of trace metals in the cigarettes ranged (mean) (μg/g), Cd: 1.3−7.6 (2.48±0.32), Pb: 0.50−12.50 (6.24±2.2), Cu: 2.89−25.35 (13.70±4.12) and Zn: 24.40−62.55 (36.22±7.50) while Ni was not detected in all the eleven brands of cigarettes. Comparable levels of trace metals were obtained in the tobacco of both imported and Ethiopian cigarettes. The average trace metal contents of cigarettes available in Ethiopia were Cd 1.82±0.39, Pb 4.23±0.97, Cu 10.2±3.1 and Zn 28.2±7.8 μg/cigarette and a person who smokes 20 cigarettes per day is estimated to increase his/her daily Cd, Pb, Cu and Zn retention by approximately 0.036, 0.085, 0.204, 0.564 mg/day, respectively. The results indicate that smoking and exposure to cigarette smoke is a serious problem to be taken into account when carrying out epidemiological studies on human exposure to trace metals.


2021 ◽  
Vol 14 (3) ◽  
pp. 235
Author(s):  
Jen-Sheng Pei ◽  
Chao-Chun Chen ◽  
Wen-Shin Chang ◽  
Yun-Chi Wang ◽  
Jaw-Chyun Chen ◽  
...  

The purpose of our study was to investigate whether genetic variations in lncRNA H19 were associated with susceptibility to childhood leukemia. Two hundred and sixty-six childhood leukemia patients and 266 healthy controls were enrolled in Taiwan, and two single nucleotide polymorphisms (SNPs), rs2839698 and rs217727, in H19 were genotyped and analyzed. There was a significant difference in the genotypic distribution of rs2839698 between patients and healthy controls (p = 0.0277). Compared to the wild-type CC genotype, the heterozygous variant CT and homozygous variant TT genotypes were associated with significantly increased risks of childhood leukemia with an adjusted odd ratio (OR) of 1.46 (95% confidence interval (CI), 1.08–2.14, p = 0.0429) and 1.94 (95%CI, 1.15–3.31, p = 0.0169), respectively (pfor tread = 0.0277). The difference in allelic frequencies between childhood leukemia patients and controls was also significant (T versus C, adjusted OR = 1.53, 95%CI, 1.13–1.79, p = 0.0077). There were no significant differences in the genotypic and allelic distributions of rs217727 between cases and controls. Interestingly, the average level of H19 rs2839698 was statistically significantly higher for patients with CT and TT genotypes than from those with the CC genotype (p < 0.0001). Our results indicate that H19 SNP rs2839698, but not rs217727, may serve as a novel susceptibility marker for childhood leukemia.


1981 ◽  
Vol 27 (9) ◽  
pp. 1546-1550 ◽  
Author(s):  
B W Renoe ◽  
C E Shideler ◽  
J Savory

Abstract We describe an integrated, molecular-absorbance, atomic absorption instrument for studying metal/ligand binding in clinical samples. For an interface between the "high-performance" liquid chromatograph and the atomic absorption instrument we used a flow-injection sample manipulator, thus allowing both the chromatograph and the atomic absorption detector to operate at their separate optimum conditions. After specimen separation with a gel permeation column, we measured the molecular components of the column eluate by molecular absorbance spectrometry and the atomic components (calcium and magnesium) by flame atomic absorption spectrophotometry. This instrument system is capable of separating and analyzing multiple components within 20 min of injection of the sample on the column. The chromatograms presented demonstrate the utility of the system for investigating metal binding to a variety of ligands in clinical samples.


Cephalalgia ◽  
2015 ◽  
Vol 36 (7) ◽  
pp. 624-639 ◽  
Author(s):  
Anne Francke Christensen ◽  
Ann-Louise Esserlind ◽  
Thomas Werge ◽  
Hreinn Stefánsson ◽  
Kári Stefánsson ◽  
...  

Objective Specific acute treatments of migraine are 5HT1B/D receptor agonists; triptans and ergotamine, but only two-thirds of patients respond well without side effects. No migraine-prophylactic drugs are specific to migraine. Prophylactic drugs are selected by time-consuming “trial and error.” Personalized treatment is therefore much needed. The objective of this study was to test the effect of 12 single nucleotide polymorphisms (SNPs) significantly associated with migraine on migraine drug responses. Methods Semi-structured migraine interviews including questions on drug responses, blood samples and genotyping were performed on 1806 unrelated migraine cases recruited from the Danish Headache Center. Association analyses were carried out using logistic regression, assuming an additive model for the genetic effect. The effect on drug responses was tested for a combined genetic score and for each of the 12 SNPs. Significant findings were subsequently tested in an independent replication sample of 392 unrelated Danish migraine cases. Results A single risk variant, rs2651899 in PRDM16, was significantly associated with efficacy of triptans with an odds ratio (OR) of treatment success of 1.3, and a higher combined genetic score was significantly associated with efficacy of triptans with an OR of success of up to 2.6. A number of SNPs showed nominal preferential association with the efficacy of triptans and others with prophylactic drugs. Analyses of triptans and ergotamine complemented each other and gave a stronger signal when analyzed together. The associations between response to triptans and genetic load and rs2651899 were partially confirmed in the independent sample. Conclusion We show for the first time an association between genetic constitution and migraine drug response. This is a first step toward future individualized medicine.


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