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1.
Int J Mol Med ; 46(5): 1899-1907, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33000207

RESUMO

An association of vitamin D receptor (VDR) polymorphisms and vitiligo has been suggested. However, previous studies have reported contradictory results while including limited data among Caucasians. The aim of this single­center study was to evaluate the effect of three common VDR gene polymorphisms (FokI, TaqI and BsmI) on susceptibility and clinical aspects of vitiligo in a Southeastern European Caucasian population. A total of 110 unrelated vitiligo cases and 509 general population controls were enrolled from October 2018 to November 2019. Genomic DNA was extracted from whole blood after de­identification and anonymization of the samples and genotyped for the selected VDR polymorphisms by the qPCR (melting curve analysis). Subgroup analysis by clinical features among subsets of patients indicated that, compared to subjects with the FokI TT genotype or T allele, carriers of the FokI CC genotype or C allele exhibited significantly decreased risk of developing vitiligo before the age of 30 [TT vs. CC: odds ratio (OR)=0.286, 95% confidence interval (CI): 0.083­0.984, P=0.041; T vs. C: OR=0.545, 95% CI: 0.313­0.948, P=0.031]. Intra­patient analysis also revealed that, compared to T allele, the presence of TaqI C allele was adversely associated with the incidence of concurrent leukotrichia (T vs. C: OR=1.874, 95% CI: 1.018­3.451, P=0.042). Comparisons between the case and control groups showed no evidence to support an association between susceptibility to vitiligo and the VDR BsmI, TaqI, and FokI polymorphisms in this cohort. Thus, the studied VDR polymorphisms might indirectly impact the clinical course and treatment decision­making despite their lack of association with vitiligo per se. Further research with larger sample sizes, especially across Caucasian individuals, should be performed to confirm these findings.


Assuntos
Predisposição Genética para Doença , Polimorfismo Genético , Receptores de Calcitriol/genética , Vitiligo/genética , Vitiligo/patologia , População Branca/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Europa (Continente) , Feminino , Frequência do Gene/genética , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Adulto Jovem
2.
Chemosphere ; 118: 336-41, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25463259

RESUMO

OBJECTIVE: Bisphenol A (BPA) is considered as an endocrine-disruptor in which humans are exposed daily mainly by food-contact products, toys, recycled paper and drinking containers. In this study, we validated a method for the isolation and the detection of BPA in human head hair samples and estimated the burden of BPA in hair of Greek population. METHODS: Hair samples were collected from 69 volunteers. The isolation of the BPA was performed by solid­liquid extraction with methanol and its determination by a liquid chromatography­mass spectrometry technique. RESULTS: The limits of quantification (LOQ = 9.7 pg mg(−1)), the accuracy (92.6%), the precision (inter 15.3%, intra 13.0%), the ion suppression (<8.1%) and the recovery (88.3%) of the method were found satisfactory. Differences in the detection rates of the positive samples as well in detected levels of BPA between rural and urban population were observed. The 41.2% of the samples collected from urban population were positive whereas the positive samples from rural population were 14.8% (p = 0.025). The mean concentration of the positive samples for the urban population was 64.1 pg mg(−1) (17.7­192.8 pg mg(−1)), for the rural population 40.3 pg mg(−1) (13.1­72.8 pg mg(−1)) and for the children 37.9 pg mg(−1) (13.1­72.8 pg mg(−1)). Significant statistical differences (p = 0.021) were observed though between urban and rural population only when negative samples were replaced with LOD/2 values. CONCLUSION: The proposed method was successfully applied for the determination of BPA in hair for the estimation of the population burden to BPA.


Assuntos
Compostos Benzidrílicos/análise , Disruptores Endócrinos/análise , Monitoramento Ambiental/métodos , Cabelo/química , Fenóis/análise , Adolescente , Adulto , Fatores Etários , Criança , Cromatografia Líquida , Monitoramento Ambiental/instrumentação , Grécia , Humanos , Limite de Detecção , Espectrometria de Massas , População Rural , Extração em Fase Sólida , População Urbana , Adulto Jovem
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