1.Pathological typing and clinical features in 70 cases of pediatric interstitial pneumonia
Min LI ; Zehong WEI ; Xin YAN ; Tao SONG ; Yuan DONG ; Minzhu ZHAO ; Yunzhi LIU ; Jianbo LI ; Renkuan TANG
Journal of Clinical Pediatrics 2014;(8):727-731
Objective To better understand pathological types of pediatric interstitial pneumonia and improve clinical diagnosis by analyzing the clinical records and pathological typing of interstitial pneumonia. Methods 70 cases of children diagnosed as interstitial pneumonia by autopsy were retrospectively analyzed. Results The number of males was more than that of females. There was a signiifcant predominance of infants less than 2 years. The clinical features include acute onset, rapid development, short duration and atypical clinical manifestations. Most patients had poor prognosis and curative effect with general therapies. Twelve cases had dubious etiology. Pathologic types of 58 cases with unclear etiology were diffuse alveolar damage type (DAD type, 38/58), desquamative interstitial pneumonia type (DIP type, 5/58), lymphoid interstitial pneumonia type (LIP type, 3/58), DAD type complicating DIP type (6/58), DAD type complicating LIP type (2/58), DAD type complicating respiratory bronchiolotitis-associated interstitial lung disease type (RB-ILD type, 3/58), DIP type complicating LIP type (1/58). Conclusions The conifrmed diagnosis rate was relatively low for pediatric interstitial pneumonia. Postmortem examination was helpful for diagnosis and improving clinical diagnosis and pathological typing.
2.The single nucleotide polymorphism rs1814521 in long non-coding RNA ADGRG3 associates with the susceptibility to silicosis: a multi-stage study.
Wei WANG ; Xiaofeng CHEN ; Chunping LI ; Rui ZHAO ; Jinlong ZHANG ; Hong QIN ; Miaomiao WANG ; Yao SU ; Minzhu TANG ; Lei HAN ; Na SUN
Environmental Health and Preventive Medicine 2022;27(0):5-5
BACKGROUND:
This study aimed to evaluate the correlation between long non-coding RNA (lncRNA)-related single nucleotide polymorphisms (SNPs) and susceptibility to silicosis.
METHODS:
First, RNA-sequencing (RNA-seq) data were comprehensively analyzed in the peripheral blood lymphocytes of eight participants (four silicosis cases and four healthy controls) exposed to silica dust to identify differentially expressed lncRNAs (DE-lncRNAs). The functional SNPs in the identified DE-lncRNAs were then identified using several databases. Finally, the association between functional SNPs and susceptibility to silicosis was evaluated by a two-stage case-control study. The SNPs of 155 silicosis cases and 141 healthy silica-exposed controls were screened by genome-wide association study (GWAS), and the candidate SNPs of 194 silicosis cases and 235 healthy silica-exposed controls were validated by genotyping using the improved Mutiligase Detection Reaction (iMLDR) system.
RESULTS:
A total of 76 DE-lncRNAs were identified by RNA-seq data analysis (cut-offs: fold change > 2 or fold change < 0.5, P < 0.05), while 127 functional SNPs among those 76 DE-lncRNAs were identified through multiple public databases. Furthermore, five SNPs were found to be significantly correlated with the risk of silicosis by GWAS screening (P < 0.05), while the results of GWAS and iMLDR validation indicated that the variant A allele of rs1814521 was associated with a reduced risk of silicosis (OR = 0.76, 95% CI = 0.62-0.94, P = 0.011).
CONCLUSION
The presence of the SNP rs1814521 in the lncRNA ADGRG3 is associated with susceptibility to silicosis. Moreover, ADGRG3 was found to be lowly expressed in silicosis cases. The underlying biological mechanisms by which lncRNA ADGRG3 and rs1814521 regulate the development of silicosis need further study.
Case-Control Studies
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Genetic Predisposition to Disease
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Genome-Wide Association Study
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Humans
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Polymorphism, Single Nucleotide
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RNA, Long Noncoding/genetics*
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Silicosis/genetics*