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1.
BMC Med Genet ; 18(1): 17, 2017 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-28212612

RESUMO

BACKGROUND: Melasma is a chronic acquired focal hypermelanosis affecting photoexposed areas, especially for women during fertile age. Several factors contribute to its development: sun exposure, sex steroids, medicines, and family history. Melanic pigmentation pathway discloses several SNPs in different populations. Here, we evaluated the association between genetic ancestry and facial melasma. METHODS: A cross-sectional study involving women with melasma and an age-matched control group from outpatients at FMB-Unesp, Botucatu-SP, Brazil was performed. DNA was extracted from oral mucosa swabs and ancestry determined by studying 61 INDELs. The genetic ancestry components were adjusted by other known risk factors by multiple logistic regression. RESULTS: We evaluated 119 women with facial melasma and 119 controls. Mean age was 39 ± 9 years. Mean age at beginning of disease was 27 ± 8 years. Pregnancy (40%), sun exposure (37%), and hormonal oral contraception (22%) were the most frequently reported melasma triggers. All subjects presented admixed ancestry, African and European genetic contributions were significantly different between cases and controls (respectively 10% vs 6%; 77% vs 82%; p < 0.05). African ancestry (OR = 1.04; 95% CI 1.01 to 1.07), first generation family history (OR = 3.04; 95% CI 1.56 to 5.94), low education level (OR = 4.04; 95% CI 1.56 to 5.94), and use of antidepressants by individuals with affected family members (OR = 6.15; 95% CI 1.13 to 33.37) were associated with melasma, independently of other known risk factors. CONCLUSIONS: Facial melasma was independently associated with African ancestry in a highly admixed population.


Assuntos
População Negra/genética , Melanose/genética , Adulto , Brasil , Estudos de Casos e Controles , Anticoncepcionais Orais/administração & dosagem , Anticoncepcionais Orais/efeitos adversos , Estudos Transversais , DNA/química , DNA/isolamento & purificação , DNA/metabolismo , Feminino , Humanos , Mutação INDEL , Modelos Logísticos , Melanose/etiologia , Pessoa de Meia-Idade , Mucosa Bucal/metabolismo , Razão de Chances , Gravidez , Fatores de Risco , População Branca/genética
2.
Cell Stress Chaperones ; 21(5): 755-62, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27383757

RESUMO

The generation of reactive oxygen species (ROS), a byproduct of aerobic energy metabolism, is maintained at physiological levels by the activity of antioxidant components. Insufficiently opposed ROS results in oxidative stress characterized by altered mitochondrial function, decreased protein activity, damage to nucleic acids, and induction of apoptosis. Elevated levels of inadequately opposed ROS induce autophagy, a major intracellular pathway that sequesters and removes damaged macromolecules and organelles. In early pregnancy, autophagy induction preserves trophoblast function in the low oxygen and nutrient placental environment. Inadequate regulation of the ROS-autophagy axis leads to abnormal autophagy activity and contributes to the development of preeclampsia and intrauterine growth restriction. ROS-autophagy interactions are altered at the end of gestation and participate in the initiation of parturition at term. The induction of high levels of ROS coupled with a failure to induce a corresponding increase in autophagy results in the triggering of preterm labor and delivery.


Assuntos
Autofagia , Estresse Oxidativo , Animais , Feminino , Retardo do Crescimento Fetal/metabolismo , Retardo do Crescimento Fetal/patologia , Humanos , Pré-Eclâmpsia/metabolismo , Pré-Eclâmpsia/patologia , Gravidez , Resultado da Gravidez , Nascimento Prematuro/metabolismo , Nascimento Prematuro/patologia
3.
Am J Reprod Immunol ; 65(6): 549-56, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21214658

RESUMO

PROBLEM: We compared the frequency of intra-amniotic infection in preterm labor (PL) with women not in labor, and correlated infection with amniotic fluid (AF) cytokines. Detailed identification of species, especially mycoplasmata, was tried to improve our understanding of the pathogenesis of PL. METHOD OF STUDY: AF from 20 women with PL and 20 controls were evaluated. Infection was detected by PCR for Mycoplasma hominis, Ureaplasma urealyticum and 16S rRNA bacterial gene, which was cloned and sequenced for bacterial identification. Interleukin (IL)-1ß, IL-6, IL-8 and tumor necrosis factor (TNF)-α levels were measured by ELISA. RESULTS: Frequency of intra-amniotic infection is higher in PL (40.0%). Sequencing-based method identified Bacteroides fragilis, Prevotella bivia and Leptotrichia amnionii, in addition to Mycoplasma species detected by PCR. AF infection correlated with increased IL-1ß and IL-6 levels. CONCLUSION: The frequency of intra-amniotic infection, especially M. hominis, in PL women who delivered with 7 days, is high and correlates with high IL-1ß and IL-6 levels, but not IL-8.


Assuntos
Líquido Amniótico/metabolismo , Bactérias Anaeróbias Gram-Negativas/fisiologia , Infecções por Bactérias Gram-Negativas/imunologia , Interleucina-1beta/metabolismo , Interleucina-6/metabolismo , Infecções por Mycoplasma/imunologia , Mycoplasma hominis/fisiologia , Trabalho de Parto Prematuro/imunologia , Infecções por Ureaplasma/imunologia , Ureaplasma urealyticum/fisiologia , Líquido Amniótico/imunologia , Líquido Amniótico/microbiologia , Feminino , Bactérias Anaeróbias Gram-Negativas/patogenicidade , Infecções por Bactérias Gram-Negativas/epidemiologia , Humanos , Interleucina-1beta/genética , Interleucina-1beta/imunologia , Interleucina-6/genética , Interleucina-6/imunologia , Interleucina-8/genética , Interleucina-8/imunologia , Interleucina-8/metabolismo , Infecções por Mycoplasma/epidemiologia , Mycoplasma hominis/patogenicidade , Trabalho de Parto Prematuro/epidemiologia , Trabalho de Parto Prematuro/microbiologia , Gravidez , Prevalência , RNA Ribossômico 16S/análise , Análise de Sequência de RNA , Fator de Necrose Tumoral alfa/genética , Fator de Necrose Tumoral alfa/imunologia , Fator de Necrose Tumoral alfa/metabolismo , Infecções por Ureaplasma/epidemiologia , Ureaplasma urealyticum/patogenicidade
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