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Possible Protective Effect of LOXL1 Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers.

ABSTRACT: Ionising radiation (IR) is an environmental factor known to alter genomes and therefore challenge organisms to adapt. Lithuanian clean-up workers of the Chernobyl nuclear disaster (LCWC) experienced high doses of IR, leading to different consequences. This study aims to characterise a unique protective genomic variation in a relatively healthy LCWC group. This variation influenced their individual reaction to IR and potentially protects against certain diseases such as exfoliation syndrome and glaucoma. Clinical and IR dosage data were collected using a questionnaire to characterise the cohort of 93 LCWC. Genome-wide genotyping using Illumina beadchip technology was performed. The control group included 466 unrelated, self-reported healthy individuals of Lithuanian descent. Genotypes were filtered out from the microarray dataset using a catalogue of SNPs. The data were used to perform association, linkage disequilibrium, and epistasis analysis. Phenotype data analysis showed the distribution of the most common disease groups among the LCWC. A genomic variant of statistical significance (Fishers' exact test, p = 0.019), rs3825942, was identified in LOXL1 (NM_005576.4:c.458G>A). Linkage disequilibrium and epistasis analysis for this variant identified the genes LHFPL3, GALNT6, PIH1D1, ANKS1B, and METRNL as potentially involved in the etiopathogenesis of exfoliation syndrome and glaucoma, which were not previously associated with the disease. The LOXL1 variant is mostly considered a risk factor in the development of exfoliation syndrome and glaucoma. The influence of recent positive selection, the phenomenon of allele-flipping, and the fact that only individuals with the homozygous reference allele have glaucoma in the cohort of the LCWC suggest otherwise. The identification of rs3825942 and other potentially protective genomic variants may be useful for further analysis of the genetic architecture and etiopathogenetic mechanisms of other multifactorial diseases.

SUBMITTER: Zukauskaite G

PROVIDER: S-EPMC8392314 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:The GuLF STUDY is investigating health outcomes associated with oil spill-related chemical exposures among workers involved in the spill response and clean-up following the Deepwater Horizon disaster. Due to the lack of dermal exposure measurements, we estimated dermal exposures using a deterministic model, which we customized from a previously published model. Workers provided information on the frequency of contact with oil, tar, chemical dispersants applied to the oil spill and sea water, as well as the use of protective equipment, by job/activity/task. Professional judgment by industrial hygienists served as a source of information for other model variables. The model estimated dermal exposures to total hydrocarbons (THC), benzene, ethylbenzene, toluene, xylene, n-hexane (BTEX-H), polycyclic aromatic hydrocarbons (PAHs), and dispersants in GuLF DREAM units (GDUs). Arithmetic means (AMs) of THC exposure estimates across study participants ranged from <0.02 to 5.50 GDUs for oil and <0.02 to 142.14 GDUs for tar. Statistical differences in the estimates were observed among the AMs of the estimates for some broad groups of worker activities over time and for some time periods across the broad groups of activities. N-Hexane had ranges similar to THC for oil exposures (e.g. AMs up to 2.22 GDUs) but not for tar (up to 5.56 GDUs). Benzene, ethylbenzene, toluene, and xylene, in contrast, were characterized by higher exposure levels than THC for oil (AMs up to 12.77, 12.17, 17.45, and 36.77 GDUs, respectively) but lower levels than THC to tar (AMs up to 3.69, 11.65, 42.37, and 88.18 GDUs, respectively). For PAHs, the AMs were as high as 219.31 and 587.98 for oil and tar, respectively. Correlations of these seven substances to each other were high (>0.9) for most of the substances in oil but were lower for some of the substances in tar. These data were linked to the study participants to allow investigation of adverse health effects that may be related to dermal exposures.

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Possible Protective Effect of LOXL1 Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers.

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