Genetic polymorphisms in CYP1A1, CYP1B1 and COMT genes in Greenlandic Inuit and Europeans

Ghisari, Mandana; Long, Manhai; Bonefeld-Jörgensen, Eva Cecilie

doi:10.3402/ijch.v72i0.21113

Cited by 26 publications

(27 citation statements)

References 41 publications

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“…We have previously reported that serum levels of PCB153 and p,p′DDE differed significantly between genotypes of CYP1A1 Ile462Val, CYP1B1 Leu432Val and COMT Val158Met in Inuit, but not in Europeans . The allele frequencies varied as well between Inuit and Europeans .…”

Section: Discussionmentioning

confidence: 87%

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk – A Greenlandic Case–Control Study

Wielsøe

Eiberg

Ghisari

et al. 2018

Basic Clin Pharma Tox

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This study investigated the effects of single nucleotide polymorphisms (SNPs) in xenobiotic and steroid hormone-metabolizing genes in relation to breast cancer risk and explored possible effect modifications on persistent organic pollutants (POPs) and breast cancer associations. The study also assessed effects of Greenlandic BRCA1 founder mutations. Greenlandic Inuit women (77 cases and 84 controls) were included. We determined two founder mutations in BRCA1: Cys39Gly (rs80357164) and 4684delCC, and five SNPs in xenobiotic and oestrogen-metabolizing genes: CYP17A1 -34T>C (rs743572), CYP19A1 *19C>T (rs10046), CYP1A1 Ile462Val (rs1048943), CYP1B Leu432Val (rs1056836) and COMT Val158Met (rs4680). We used chi-square test for comparison of categorical variables between groups. Odds ratio (OR) estimates with 95% confidence interval (95%CI) were obtained using logistic regression models. The variant allele of BRCA1 Cys39Gly increased breast cancer risk (Gly/Cys versus Cys/Cys, OR: 12.2, 95%CI: 1.53; 98.1), and carriers of the variant allele of CYP17A1 -34T>C had reduced risk (CT+CC versus TT, OR: 0.44, 95%CI: 0.21; 0.93). CYP17A1 -34T>C was an effect modifier on the association between perfluoroalkyl acids (PFAAs) and breast cancer risk (∑PFAA, ratio of OR: 0.18, 95%CI: 0.03; 0.97). Non-significant modifying tendencies were seen for the other SNPs on the effect of polychlorinated biphenyls, organochlorine pesticides and PFAAs. In summary, the BRCA1 Cys39Gly and CYP17A1 -34T>C genetic variations were associated with breast cancer risk. Our results indicate that the evaluated genetic variants modify the effects of POP exposure on breast cancer risk; however, further studies are needed to document the data from the relatively small sample size.

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Section: Discussionmentioning

confidence: 87%

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk – A Greenlandic Case–Control Study

Wielsøe

Eiberg

Ghisari

et al. 2018

Basic Clin Pharma Tox

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“…A recent study (Ghisari et al, 2013) shows that the Inuit of Greenland, an ethnic group descended from north-east Asians, has very high frequencies of the Met allele (57%). This seriously undermines the explanation of genetic variation in terms of historical migrations of people, as the two most closely genetically related racial groups (Native American and East Asians) have much lower frequencies of Met (around 0.3).…”

Section: Discussionmentioning

confidence: 99%

“…Samples from 'European Mixed' and African American were left out as they were mixed samples of unclear geographic origin. Frequencies for the Inuit of Greenland were obtained from a recent study (Ghisari et al, 2013). This has not yet been added to the Alfred database because of slight delays (Kenneth K. Kidd, personal communication), but it will be added soon.…”

Section: Methodsmentioning

confidence: 99%

Correlation of the COMT Val158Met polymorphism with latitude and a hunter-gather lifestyle suggests culture–gene coevolution and selective pressure on cognition genes due to climate

Piffer¹

2013

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Dual-inheritance theory posits that the genotype has an impact on the evolution of human behavior and that cultural traits can be constrained by genetic imperatives. A large body of studies provides evidence that the functional catechol-O-methyltransferase (COMT) Val158Met polymorphism is associated with executive function, working memory (WM), and intelligence. A survey of the population genetics database provides evidence that COMT gene frequencies vary across populations. The aim of the present study was to test the hypothesis that the COMT gene has an impact on cultural evolution, specifically on the adoption of an agricultural vs. a hunter-gatherer lifestyle. Statistically significant differences in COMT allele frequencies between hunter-gatherer and agricultural societies were found. Ethnic groups whose economy is based on farming have higher frequencies of the Met allele (symbol: A), whereas societies based on a hunter-gatherer economy have very low frequencies of the Met allele and a disproportionate predominance of the Val allele. Moreover, the frequency of the Met allele was positively correlated to the populations' IQ (r = 0.57). The FNBP1L gene (rs236330) is associated with childhood and adult intelligence and it varies in frequency across populations. Frequency of rs236330 was also significantly correlated with the populations' IQ (r = 0.81). COMT and FNBP1L had fairly similar geographical distributions (r = 0.44) although the result did not reach statistical significance. The results suggest that the genotype of a population influences its cultural development in fairly specific and predictable ways. Met allele frequency was positively correlated with latitude (r = 0.56), suggesting selective pressure due to climate.

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“…Relatively little is known about the specific genetic polymorphisms in genes involved in the activation and detoxification mechanisms of environmental contaminants in Inuit and their relation to health risk. Ghisari et al (172) compared the genotype and allele frequencies of the cytochrome P450 CYP1A1 Ile462Val (rs1048943), CYP1B1 Leu432Val (rs1056836) and catechol-O-methyltransferase (COMT) Val158Met (rs4680) in Greenlandic Inuit (n=254) and Europeans (n=262) and found that the genotype and allele frequency distributions of the three genetic polymorphisms differed significantly between the Inuit and Europeans. For Inuit, the genotype distribution was more similar to those reported for Asian populations.…”

Section: Genetic Modifiersmentioning

confidence: 99%

“…A significant difference in serum PCB153 and p,p’ -DDE levels between Inuit and Europeans was found, and for Inuit associations were also found between POP levels and genotypes for CYP1A1 , CYP1B1 and COMT . The data provide new information on gene polymorphisms in Greenlandic Inuit that might support evaluation of susceptibility to environmental contaminants (172). Studying polymorphisms in genes involved in xenobiotic metabolism and oestrogen biosynthesis, CYP1A1 , CYP1B1 , COMT and CYP17 , CYP19 and the BRCA1 founder mutation in relation to breast cancer risk, Ghisari et al (164) found that the BRCA1 founder mutation and polymorphisms in CYP1A1 and CYP17 can increase breast cancer risk among Inuit women and that risk increases with higher serum levels of PFOS and PFOA.…”

Section: Genetic Modifiersmentioning

confidence: 99%

Health effects associated with measured levels of contaminants in the Arctic

Weihe

Debes

Halling

et al. 2016

International Journal of Circumpolar Health

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The Human Health Assessment Group has over the past decade recommended that effect studies be conducted in the circumpolar area. Such studies examine the association between contaminant exposure in the Arctic populations and health effects. Because foetuses and young children are the most vulnerable, effect studies are often prospective child cohort studies. The emphasis in this article is on a description of the effects associated with contaminant exposure in the Arctic. The main topics addressed are neurobehavioural, immunological, reproductive, cardiovascular, endocrine and carcinogenic effect. For each topic, the association between exposure and effects is described, and some results are reported for similar studies outside the Arctic.

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Genetic polymorphisms in CYP1A1, CYP1B1 and COMT genes in Greenlandic Inuit and Europeans

Cited by 26 publications

References 41 publications

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk – A Greenlandic Case–Control Study

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk – A Greenlandic Case–Control Study

Correlation of the COMT Val158Met polymorphism with latitude and a hunter-gather lifestyle suggests culture–gene coevolution and selective pressure on cognition genes due to climate

Health effects associated with measured levels of contaminants in the Arctic

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