Genetic Variation at a Metallothionein<i>2A</i>Promoter Single-Nucleotide Polymorphism in White and Black Females in Midwestern United States

McElroy, Jane A.; Bryda, Elizabeth C.; McKay, Stephanie; Schnabel, Robert D.; Taylor, Jeremy F.

doi:10.1080/15287394.2010.485067

Cited by 14 publications

(12 citation statements)

References 18 publications

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“…Our recent study has also reported a similar prevalence of A by G replacement at position −5 in the core region of the MT2A promoter for homozygous common allele carriers as well as for heterozygosity and homozygosity for the G variant in the studied IP group [ 39 ]. The resulting data resemble the findings in some ethnic populations such as those from Japan, Turkey, and America [ 23 , 36 – 38 ]. For example, Kita et al [ 23 ] report that an incidence of the conversion A → G in the core promoter region of the MT2A gene near the TATA box was 18 % for Japanese people, with the carriage of different genotypes being 82, 17, and 0.9 % for A/A, A/G, and G/G, respectively.…”

Section: Discussionsupporting

confidence: 80%

“…Since the expression of MTs can be affected by genetic variation in the core promoter region and diverse frequency of the essential alleles, the presence of SNPs may lead to reduced cellular activity of metallothioneins and affect abnormal intracellular pathways of cell proliferation, apoptosis, and response to oxidative stress, thus potentially influencing the susceptibility of the individual to various types of tumors [ 6 , 8 , 20 – 22 , 31 – 33 ]. Unfortunately, among the several previous reports on the rs28366003, rs1610216, and rs10636 SNPs in the MT2A gene, only single studies related to the neoplastic process report the frequency of MT isoforms within different ethnic populations [ 20 – 23 , 34 – 38 ].…”

Section: Discussionmentioning

confidence: 99%

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Metallothionein 2A core promoter region genetic polymorphism and its impact on the risk, tumor behavior, and recurrences of sinonasal inverted papilloma (Schneiderian papilloma)

et al. 2015

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Inverted papillomas are a unique group of locally aggressive benign epithelial neoplasms in the nasal cavity and paranasal sinuses arising from the Schneiderian mucosa. Metallothioneins are sulfhydryl-rich heavy metal-binding proteins required for metal toxicity protection and regulation of biological mechanisms including proliferation and invasion. The goal of this study was to identify three SNPs at loci −5 A/G (rs28366003) and −209 A/G (rs1610216) in the core promoter region and at locus +838 C/G (rs10636) in 3′UTR region of the MT2A gene with IP risk and with tumor invasiveness according to Krouse staging. Genotyping was performed using the PCR restriction fragment length polymorphism technique in 130 genetically unrelated IP individuals, and 418 randomly selected healthy volunteers. The presence of the rs28366003 SNP was significantly related to the risk of IP within the present population-based case-control study. Compared to homozygous common allele carriers, heterozygosity and homozygosity for the G variant had a significantly increased risk of IP (adjusted odds ratio [OR] = 7.71, 95 % confidence interval [CI]: 4.01–14.91, p dominant < 0.001). Moreover, risk allele carriers demonstrated higher Krouse stage (pT1 vs. pT2-4) (OR = 19.32; 95 % CI, 2.30–173.53; p < 0.0001), diffuse tumor growth (OR = 4.58; 95 % CI, 1.70–12.11; p = 0.0008), bone destruction (OR = 4.13; 95 % CI, 1.50–11.60; p = 0.003), and higher incidence of tumor recurrences (OR = 5.11; 95 % CI, 1.68–15.20; p = 0.001). The findings suggest that MT2A gene variation rs28366003 may be implicated in the etiology of sinonasal inverted papilloma in a Polish population.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Metallothionein 2A core promoter region genetic polymorphism and its impact on the risk, tumor behavior, and recurrences of sinonasal inverted papilloma (Schneiderian papilloma)

et al. 2015

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“…The −5A/G polymorphism has been studied in Japanese and Turkish populations and genotype frequencies of AA, AG and GG are 82, 17 and 0,9 % for Japanese and 87, 12,3 and 0,7 % for Turkish [13, 16]. McElroy et al [17] determined the frequency of the A and G alleles at rs28366003 in the promoter region of MT2A in White and Black females in the Midwestern United States. The frequency of the G allele was 1.1 % for Blacks and 6.4 % for Whites.…”

Section: Resultsmentioning

confidence: 99%

Metallothionein 2A genetic polymorphisms and risk of ductal breast cancer

et al. 2012

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Metallothioneins (MTs) are a family of metal binding proteins that play an important role in cellular processes such as proliferation and apoptosis. Metallothionein 2A is the most expressed MT isoform in the breast cells. A number of studies have demonstrated increased MT2A expression in various human tumors, including breast cancer. We carried out an association study to examine whether MT2A gene polymorphisms are associated with risk of breast cancer. Information on lifestyle risk factors was collected via a self-administered questionnaire. Genotyping was conducted using polymerase chain reaction–restriction fragment length polymorphism technique. Three single nucleotide polymorphisms (SNP) rs28366003, rs1610216 and rs10636 were genotyped in 534 breast cancer cases and 556 population controls. One SNP in MT2A (rs28366003) showed a positive association with breast cancer. Compared with homozygous common allele carriers, heterozygous for the G variant [odds ratio (OR) = 1.92, 95 % confidence interval (CI):1.28–2.81, p trend <0.01; the OR assuming a dominant model 1.93 (95 % CI: 1.29–2.89, pdominant <0.02) after adjustment for age, family history, smoking status, BMI, menarche, parity, menopausal status and use of contraceptive and menopausal hormones] had a significantly increased risk of breast cancer in Polish population, as well as women with haplotypes, including variant allele of rs28366003 SNP (OR = 1.58, CI: 0.41–6.33, p global = 0.03). Our data suggest that the rs28366003 SNP in MT2A is associated with risk of breast cancer in Polish population.

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“…The minor allele (G) of rs28366003 is rare in the white population of North America (McElroy et al 2010), and our study included only one homozygote for the minor allele; the association we observed with reduced urinary Cd, Cu, and Zn must be interpreted cautiously. Heterozygotes at rs28366003 also had lower U-Cd than AA homozygotes, although the difference was not statistically significant.…”

Section: Discussionmentioning

confidence: 98%

Genetic variation in metallothionein and metal-regulatory transcription factor 1 in relation to urinary cadmium, copper, and zinc

Adams

Barrick

Christopher

et al. 2015

Toxicology and Applied Pharmacology

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Background Metallothionein (MT) proteins play critical roles in the physiological handling of both essential (Cu and Zn) and toxic (Cd) metals. MT expression is regulated by metal-regulatory transcription factor 1 (MTF1). Hence, genetic variation in the MT gene family and MTF1 might therefore influence excretion of these metals. Methods 321 women were recruited in Seattle, WA and Las Cruces, NM and provided demographic information, urine samples for measurement of metal concentrations by mass spectrometry and creatinine, and blood or saliva for extraction of DNA. Forty-one single nucleotide polymorphisms (SNPs) within the MTF1 gene region and the region of chromosome 16 encoding the MT gene family were selected for genotyping in addition to an ancestry informative marker panel. Linear regression was used to estimate the association of SNPs with urinary Cd, Cu, and Zn, adjusted for age, urinary creatinine, smoking history, study site, and ancestry. Results Minor alleles of rs28366003 and rs10636 near the MT2A gene were associated with lower urinary Cd, Cu, and Zn. Minor alleles of rs8044719 and rs1599823, near MT1A and MT1B, were associated with lower urinary Cd and Zn, respectively. Minor alleles of rs4653329 in MTF1 was associated with lower urinary Cd. Conclusions These results suggest that genetic variation in the MT gene region and MTF1 influences urinary Cd, Cu, and Zn excretion.

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Genetic Variation at a Metallothionein2APromoter Single-Nucleotide Polymorphism in White and Black Females in Midwestern United States

Cited by 14 publications

References 18 publications

Metallothionein 2A core promoter region genetic polymorphism and its impact on the risk, tumor behavior, and recurrences of sinonasal inverted papilloma (Schneiderian papilloma)

Metallothionein 2A core promoter region genetic polymorphism and its impact on the risk, tumor behavior, and recurrences of sinonasal inverted papilloma (Schneiderian papilloma)

Metallothionein 2A genetic polymorphisms and risk of ductal breast cancer

Genetic variation in metallothionein and metal-regulatory transcription factor 1 in relation to urinary cadmium, copper, and zinc

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