RESUMO
The Chinese keratoconus (CKC) cohort study is a population-based longitudinal prospective cohort study in the Chinese population involving a clinical database and biobanks. This ongoing study focuses on the prevention of KC progression and is the first to involve the effect of geneâenvironment interactions on KC progression. The CKC cohort is hospital-based and dynamic and was established in Zhengzhou, China; KC patients (n = 1114) from a large geographical area were enrolled from January 2019 to June 2023, with a mean age of 22.23 years (6â57 years). Demographic details, socioeconomic characteristics, lifestyle, disease history, surgical history, family history, and visual and social function data are being collected using questionnaires. General physical examination, eye examination, biological specimen collection, and first-degree relative data were collected and analyzed in the present study. The primary focus of the present study was placed on gene, environment and the effect of geneâenvironment interactions on KC progression. The follow-up of the CKC cohort study is expected to include data collection at 3 months, 6 months, and 1 year after the initial examination and then at the annual follow-up examinations. The first follow-up of the CKC cohort study was recorded. A total of 918 patients completed the follow-up by June 1, 2023, with a response rate of 82.40%. Aside from the younger age of patients who were followed up, no significant differences were found between patients who were followed up and patients who were not.
Assuntos
Interação Gene-Ambiente , Ceratocone , Humanos , Ceratocone/genética , Ceratocone/epidemiologia , Feminino , Masculino , Adulto , China/epidemiologia , Pessoa de Meia-Idade , Estudos Prospectivos , Adolescente , Adulto Jovem , Estudos Longitudinais , Criança , Progressão da Doença , Estudos de Coortes , Inquéritos e Questionários , Povo Asiático/genética , Povo Asiático/estatística & dados numéricos , População do Leste AsiáticoRESUMO
The authors prepared nc-SiOx: H thin films using plasma enhanced chemical vapor deposition methods (PECVD) and investigated the influence of oxygen incorporation on the microstructure and band gap properties of the films. The results indicated that with the increase in oxygen mixing ratio (CO2/SiH4), the grain size of the nanocrystal-silicon grain as well as the crystallinity of the film reduced, and the surface tensile stress of the nanocrystal-silicon grain first increased and then decreased. Fourier infrared absorption spectra analysis indicated that, with the increase in oxygen mixing ratio, the intensity of the oxygen rich Si--O bond increased while that of the silicon rich Si--O bond decreased and the structure factor reduced in the meantime accompanied by the improved order degree of thin films. The structure factor increased when the oxygen mixing ratio exceeded 0.08, which shows that the order degree of thin films dropped. In addition, the optical gap increased and the band tail width first increased and then decreased as a result of the incorporation of the oxygen. As a result, the microstructure and band gap properties of the films can be controlled by incorporating oxygen. And the crystallinity and optical gap of the material was high, and the microstructure of the films was improved at the same time when the oxygen mixing ratio was 0. 08, so it can be used as intrinsic layer of the thin-film solar cells.
RESUMO
Purpose: Keratoconus (KC) is a progressive corneal disease that can lead to corneal blindness if not properly managed. The purpose of this study was to identify genetic associations with KC in China and to investigate whether these genetic variants are associated with corneal thickness and corneal curvature in KC cases. Methods: A genome-wide association study was conducted on 853 patients with KC and 6248 controls. The KC cases were genotyped with the Illumina Infinium Human Asian Screening Array BeadChip, and the controls were genotyped with the Illumina Infinium Human Global Screening Array BeadChip. Genetic associations with KC, as well as correlations between the positive variants and corneal parameters including central corneal thickness (CCT) and mean keratometry (Km), were compared using PLINK version 1.90. Results: Our present study identified four single-nucleotide polymorphisms (SNPs) within four risk loci (PTGER3: rs2300163, EYA1: rs1077435, ASS1: rs141365191, and CHTF8: rs3743680) associated with KC in Chinese patients that reached genome-wide significance. Among the identified SNPs with P < 1.00 × 10-4, seven SNPs (FOSL2-PLB1: rs12622211, RXRA-COL5A1: rs3118515, rs3132306, rs1536482, rs3118520, KAT6B: rs192187772, RAP2A-IPO5: rs41361245) were observed to be associated with CCT, and one SNP (USP13: rs6767552) was found to be associated with Km. Conclusions: In the first genome-wide association study of KC with a relatively large study population in China, we identified four SNPs in four risk loci associated with the disease. The findings enriched the understanding of genetic susceptibility to KC and provided new insights into the genetic etiology of the disease.
Assuntos
Povo Asiático , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Ceratocone , Polimorfismo de Nucleotídeo Único , Humanos , Ceratocone/genética , Feminino , Masculino , China/epidemiologia , Adulto , Povo Asiático/genética , Adulto Jovem , Pessoa de Meia-Idade , Córnea/patologia , Adolescente , Loci Gênicos , Topografia da Córnea , População do Leste AsiáticoRESUMO
The ATP-binding cassette (ABC) transporters have crucial roles in various biological processes such as growth, development and immune defense in eukaryotes. However, the roles of ABC transporters in the immune system of crustaceans remain elusive. In this study, 38 ABC genes were systematically identified and characterized in Penaeus vannamei. Bioinformation analysis revealed that PvABC genes were categorized into ABC A-H eight subfamilies with 17 full-transporters, 11 half transporters and 10 soluble proteins, and multiple immunity-related cis-elements were found in gene promoter regions. Expression analysis showed that most PvABC genes were widely and highly expressed in immune-related tissues and responded to the stimulation of Vibrio parahaemolyticus. To investigate whether PvABC genes mediated innate immunity, PvABCC5, PvABCF1 and PvABCB4 were selected for dsRNA interference experiment. Knockdown of PvABCF1 and PvABCC5 not PvABCB4 increased the cumulative mortality of P. vannamei and bacterial loads in hepatopancreas after infection with V. parahaemolyticus. Further analysis showed that the PvABCF1 and PvABCC5 knockdown decreased expression levels of NF-κB pathway genes and antimicrobial peptides (AMPs). Collectively, these findings indicated that PvABCF1 and PvABCC5 might restrict V. parahaemolyticus challenge by positively regulating NF-κB pathway and then promoting the expression of AMPs, which would contribute to overall understand the function of ABC genes in innate immunity of invertebrates.