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1.
J Transl Med ; 21(1): 47, 2023 01 25.
Artigo em Inglês | MEDLINE | ID: mdl-36698149

RESUMO

BACKGROUND: Genetic knowledge of gestational diabetes mellitus (GDM) in Chinese women is quite limited. This study aimed to identify the risk factors and mechanism of GDM at the genetic level in a Chinese population. METHODS: We conducted a genome-wide association study (GWAS) based on single nucleotide polymorphism (SNP) array genotyping (ASA-CHIA Bead chip, Illumina) and a case-cohort study design. Variants including SNPs, copy number variants (CNVs), and insertions-deletions (InDels) were called from genotyping data. A total of 2232 pregnant women were enrolled in their first/second trimester between February 2018 and December 2020 from Anqing Municipal Hospital in Anhui Province, China. The GWAS included 193 GDM patients and 819 subjects without a diabetes diagnosis, and risk ratios (RRs) and their 95% confidence intervals (CIs) were estimated by a regression-based method conditional on the population structure. The calling and quality control of genotyping data were performed following published guidelines. CNVs were merged into CNV regions (CNVR) to simplify analyses. To interpret the GWAS results, gene mapping and overexpression analyses (ORAs) were further performed to prioritize the candidate genes and related biological mechanisms. RESULTS: We identified 14 CNVRs (false discovery rate corrected P values < 0.05) and two suggestively significant SNPs (P value < 0.00001) associated with GDM, and a total of 19 candidate genes were mapped. Ten genes were significantly enriched in gene sets related to lipase (triglyceride lipase and lipoprotein lipase) activity (LIPF, LIPK, LIPN, and LIPJ genes), oxidoreductase activity (TPH1 and TPH2 genes), and cellular components beta-catenin destruction complex (APC and GSK3B genes), Wnt signalosome (APC and GSK3B genes), and lateral element in the Gene Ontology resource (BRCA1 and SYCP2 genes) by two ORA methods (adjusted P values < 0.05). CONCLUSIONS: Genes related to lipolysis, redox reaction, and proliferation of islet ß-cells are associated with GDM in Chinese women. Energy metabolism, particularly lipolysis, may play an important role in GDM aetiology and pathology, which needs further molecular studies to verify.


Assuntos
Diabetes Gestacional , Humanos , Feminino , Gravidez , Diabetes Gestacional/genética , Estudo de Associação Genômica Ampla , Estudos de Coortes , População do Leste Asiático , Lipólise , Polimorfismo de Nucleotídeo Único/genética
2.
Indoor Air ; 31(6): 2312-2328, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-33969921

RESUMO

In this paper, a three-dimensional non-isothermal computational model for predicting indoor SVOC distribution is proposed, considering the effects of turbulence diffusion and suspended particles. The realizable k-ε model is introduced for turbulent flow simulation in a room. The Euler-Euler method is adopted to deal with the gas-particle two-phase flow coupled problem. Inertia slip velocity and irreversible first-order absorption boundary are employed for more accurate prediction of particle motion. The simulated curve of outlet gas-phase di-2-ethylhexyl phthalate (DEHP) concentration with emission time is verified by available experimental data. The emission process of DEHP in a 15 m2 room in Beijing during 100 days with or without air cleaner is simulated by the developed model considering air leak through window and door gaps. It is found that if the air cleaner keeps on all the time during 100 days the gas-phase DEHP concentration in the room will tend to be uniform, while the emission process is far from equilibrium without an air cleaner even the emission lasts 100 days. Results also suggest that floor heating, decrease of particle concentration, weaken of heat transfer, enhancement of mass transfer, and air infiltration in window gap contribute to decrease DEHP concentration.


Assuntos
Poluição do Ar em Ambientes Fechados , Dietilexilftalato , Compostos Orgânicos Voláteis , Poluição do Ar em Ambientes Fechados/análise , Pequim , Dietilexilftalato/análise , Pisos e Cobertura de Pisos
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