1.Nursing care for severe cholestatic mixed hepatotoxicity associated with immune checkpoint inhibitors:a case report
Yu LIU ; Suihua CHEN ; Miaomiao ZHU ; Huiying QIN
Modern Clinical Nursing 2024;23(8):34-40
This paper summarises the nursing experiences with a lung cancer patient who suffered Grade 4 mixed hepatotoxicity characterised with cholestasis.Summarised key care measures include close observation of liver biochemical indexes,timely and safe administration of immunosuppressants,implementation of skincare procedure,prevention of opportunistic infections,individualised exercises,nutrition care,sleep care and psychological care.The patient was discharged with oral immune inhibitors after 29 days of hospitalisation when the hepatotoxicity had been improved and down to Grade 1.In the second month of follow-up,the patient had a well-recovered liver function.
2.Screening and functional analysis of differentially expressed circRNA in rat articular chondrocyte injury induced by T-2 toxin
Miaomiao QIN ; Wenbo LU ; Chengyu ZHAO ; Kangting LUO ; Miao WANG ; Juan ZUO ; Shuiyuan YU ; Guoyu ZHOU ; Fangfang YU
Chinese Journal of Endemiology 2024;43(8):615-621
Objective:To screen differentially expressed circular RNA (circRNA) in rat articular chondrocyte injury induced by T-2 toxin, and explore the mechanism of cartilage injury.Methods:Twenty-four SD rats (males, body weight 60 - 80 g) were randomly divided into T-2 toxin group (administrated T-2 toxin 100 ng·g -1·d -1 by gavage) and control group (administrated equal amounts of deionized water by gavage) using a random number table method, 12 rats in each group. After 4 weeks of intervention, the articular cartilage was collected for transcriptome sequencing. Deseq2 software [ P < 0.05 and |log 2(fold change)| > 1, fold change was the multiple of differential expression] was used to identify differentially expressed circRNA. Based on the competing endogenous RNAs (ceRNA) hypothesis, the miRanda software was used to predict the microRNA (miRNA, miR) binding sites of differentially expressed circRNA, and Cytoscape 3.10.0 software was used to plot the circRNA-miRNA interaction network. MiRWalk 3.0, MiRDB, and miRTarBase softwares were used to predict downstream target genes, and Cytoscape 3.10.0 software was used to map the circRNA-miRNA-mRNA interaction network. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) were used to analyze the biological functions and enrichment pathways of target genes. Results:A total of 19 differentially expressed circRNAs were screened (including 10 upregulated and 9 downregulated). A total of 1 320 miRNAs binding sites and 16 target genes were predicted. Target gene enrichment analysis revealed significant enrichment of mitogen-activated protein kinase (MAPK) and nuclear factor kappa-B (NF-κB) signaling pathway ( P < 0.05). Tumour necrosis factor receptor-associated factor 6 (Traf6) and interleukin-1 receptor-associated kinase 1 (Irak1) were enriched in the MAPK and NF-κB signaling pathways, with corresponding miRNA and circRNA of miR-146a-5p and chr2: 94716330|94720889. Conclusion:Nineteen differentially expressed circRNAs in rat articular chondrocyte injury are successfully screened, and chr2: 94716330|94720889 may regulate the MAPK and NF-κB signaling pathways through the miR-146a-5p/Traf6/Irak1 axis, inducing articular chondrocyte injury.
3.Comparison of clinical esthetic effects of two abutments of maxillary anterior dental implants with single crown
Na WANG ; Miaomiao YANG ; Wei QIN
Chinese Journal of Stomatology 2024;59(6):571-577
Objective:To compare and evaluate the clinical esthetic effect of angle screw channel abutment and personalized zirconia adhesive abutment for single crown restoration in esthetic area.Methods:A total of 44 patients (21 males and 23 females), aged (37.4±13.5) years (18-67 years) who completed single crown restoration in the esthetic area of the Department of Oral Implantology, Dalian Stomatological Hospital from January 2018 to June 2022 were retrospectively selected. A total of 44 implants were inserted. According to the abutment selected for final restoration, the patients were divided into angle screw channel abutment group and personalized zirconia bonding abutment group, with 22 patients and 22 implants in each group. The implant survival rate, complication rate, pink and white esthetic score and marginal bone resorption were compared between the two groups.Results:Follow-up to 12 months after final restoration, implant survival rates were 100% (22/22) in both groups, and there was no statistically significant difference in the incidence of mechanical complications between the two groups [9% (2/22) in the angle screw channel abutment group and 0(0/22) in the personalized zirconia bonding abutment group, χ 2=2.10, P=0.148]. In the follow-up appointment 12 months after final restoration, the pink esthetic score of the angle screw channel abutment group (12.95±1.05) was significantly better than that of the personalized zirconia bonding abutment group (11.45±2.02) ( t=3.10, P=0.003). There was no significant difference in white esthetic scores between the two groups ( t=1.27, P=0.212). There was no significant difference in the marginal bone resorption between the two groups ( t=0.32, P=0.749). Conclusions:When a single implant supported restoration is delivered in the esthetic area of the anterior maxilla, high implant survival rate and stability of the marginal bone can be obtained by using the angle screw channel abutment or the personalized zirconia bonding abutment. The clinical efficacy of the angle screw channel system is reliable, and it will provide clinicians with a new treatment option.
4.Clinical efficacy of redo rectal resection and coloanal anastomosis
Zuolin ZHOU ; Yanjiong HE ; Qiyuan QIN ; Biyan SHAO ; Miaomiao ZHU ; Rui LUO ; Qi GUAN ; Xiaoyan HUANG ; Huaiming WANG ; Hui WANG ; Tenghui MA
Chinese Journal of Digestive Surgery 2023;22(6):755-761
Objective:To investigate the clinical efficacy of redo rectal resection and coloanal anastomosis.Methods:The retrospective and descriptive study was conducted. The clinicopatholo-gical data of 49 patients who underwent redo rectal resection and coloanal anastomosis for the treatment of local recurrence of tumors and failure of colorectal or coloanal anastomosis after rectal resection in the Sixth Affiliated Hospital of Sun Yat-sen University from November 2012 to December 2021 were collected. There were 32 males and 17 females, aged 57(range,31-87)years. Redo rectal resection and coloanal anastomosis was performed according to the patient′s situations. Observa-tion indicators: (1) surgical situations; (2) postoperative situations; (3) follow-up. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distri-bution were represented as M( Q1, Q3) or M(range). Count data were described as absolute numbers or percentages. Results:(1) Surgical situations. All 49 patients underwent redo rectal resection and coloanal anastomosis successfully, with the interval between the initial surgery and the reopera-tion as 14.2(7.1,24.3)months. The operation time and volume of intraoperative bold loss of 49 patients in the redo rectal resection and coloanal anastomosis was 313(251,398)minutes and 125(50,400)mL, respectively. Of the 49 patients, there were 38 cases receiving laparoscopic surgery including 12 cases with transanoscopic laparoscopic assisted surgery, 11 cases receiving open surgery including 2 cases as conversion to open surgery, there were 20 cases undergoing Bacon surgery, 14 cases undergoing Dixon surgery, 12 cases undergoing Parks surgery, 2 cases undergoing intersphincter resection and 1 case undergoing Kraske surgery, there were 20 cases undergoing rectum dragging out excision and secondary colonic anastomosis, 13 cases undergoing dragging out excision single anastomosis, 12 cases undergoing rectum dragging out excision double anastomosis, 4 cases undergoing first-stage manual anastomosis, there were 21 cases with enterostomy before surgery, 16 cases with prophylactic enterostomy after surgery, 12 cases without prophylactic enterostomy after surgery. The duration of postoperative hospital stay of 49 patients was (14±7)days. (2) Postoperative situations. Fifteen of 49 patients underwent postoperative complications, including 8 cases with grade Ⅱ Clevien-Dindo complications and 7 cases with ≥grade Ⅲ Clevien-Dindo complications. None of 49 patient underwent postoperative transferring to intensive care unit and no patient died during hospitalization. Results of postoperative histopathological examination in 23 patients with tumor local recurrence showed negative incision margin of the surgical specimen. (3) Follow-up. All 49 patients underwent post-operative follow-up of 90 days. There were 42 cases undergoing redo rectal resection and coloanal anastomosis successfully and 7 cases failed. Of the 37 patients with enterostomy, 20 cases failed in closing fistula, and 17 cases succeed. There were 46 patients receiving follow-up with the median time as 16.1(7.5,34.6)months. The questionnaire response rate for low anterior resection syndrome (LARS) score was 48.3%(14/29). Of the patients who underwent redo coloanal anastomosis and closure of stoma successfully, there were 9 cases with mild-to-moderate LARS.Conclusion:Redo rectal resection and coloanal anastomosis is safe and feasible for patients undergoing local recurr-ence of tumors and failure of colorectal or coloanal anastomosis after rectal resection, which can successfully restore intestinal continuity in patients and avoid permanent enterostomy.
5.Genetic variation and distribution characteristics of thalassemia in people of childbearing age in Hubei Province
Runhong XU ; Hui LI ; Yayun QIN ; Yufei JIANG ; Meiqi YI ; Guoqiang SUN ; Miaomiao CHEN ; Jieping SONG
Chinese Journal of Endemiology 2023;42(4):280-285
Objective:To study the genetic variation and distribution characteristics of thalassemia in people of childbearing age in Hubei Province, and to provide clinical basis for the local government decision-making departments to formulate and promote appropriate policies for prevention and control of thalassemia.Methods:Venous blood samples were collected from 44 849 people of childbearing age in hospitals in Hubei Province from May 13, 2019 to August 17, 2021. PCR-flow fluorescence hybridization and PCR+diversion hybridization were used to screen thalassemia genes. Spouses of those who tested positive were also tested for thalassemia genes. When both spouses carried the same type of thalassemia gene, the amniotic fluid of pregnant women was extracted for prenatal diagnosis and followed up.Results:Among the 44 849 people of childbearing age, 2 286 cases were diagnosed as thalassemia gene carriers through genetic testing, and the total detection rate was 5.10% (2 286/44 849). Among them, 1 488 cases were diagnosed as α-thalassemia, and the detection rate was 3.32% (1 488/44 849); 767 cases were diagnosed as β-thalassemia, and the detection rate was 1.71% (767/44 849); 31 cases were diagnosed as α-thalassemia combined with β-thalassemia, and the detection rate was 0.07% (31/44 849). The top three genotypes of α-thalassemia were -α 3.7/αα, -- SEA/αα, and -α 4.2/αα, accounting for 58.06% (864/1 488), 26.14% (389/1 488), and8.74% (130/1 488), respectively. The top three genotypes of β-thalassemia were β IVS-Ⅱ-654/β N, β CD41-42/β N, and β CD17/β N, accounting for 41.72% (320/767), 21.25% (163/767), and 16.04% (123/767), respectively. The main genotypes of α-thalassemia combined with β-thalassemia were -α 3.7/αα complex β IVS-Ⅱ-654/β N and -α 3.7/αα complex β CD41-42/β N, accounting for 29.03% (9/31) and 16.13% (5/31), respectively. A total of 59 people of childbearing age were conducted prenatal diagnosis, among fetus, there were 4 cases of severe thalassemia (2 cases of severe α-thalassemia, 2 cases of severe β-thalassemia), 5 cases of intermediate α-thalassemia, 5 cases of intermediate or severe β-thalassemia, 19 cases of mild thalassemia (8 cases of mild α-thalassemia, 11 cases of mild β-thalassemia), 13 cases of stationary α-thalassemia, and 1 case of stationary α-thalassemia combined with mild β-thalassemia, there were 12 cases without α-thalassemia or β-thalassemia genes. After follow-up, 4 cases of severe thalassemia, 2 cases of intermediate α-thalassemia, and 5 cases of intermediate or severe β-thalassemia were terminated pregnancy by the joint decision of both parents. Conclusions:In Hubei Province, the detection rate of thalassemia is high, and α-thalassemia is the main mutation type. The combination of thalassemia gene screening and prenatal diagnosis is of great significance in reducing the birth rate of children with thalassemia.
6.Analysis of anxiety and depressive status and influencing factors in patients with colorectal polyps in part of Xinjiang area
Xuejiao TAN ; Yaqiong PENG ; Xin PENG ; Miaomiao LUO ; Jian QIN ; Jiaxue LI ; Lina YE ; Ronghui PU ; Li LAI ; Jiajing MA ; Qinglin ZHANG ; Fang LIU ; Weigang CHEN
Chinese Journal of Digestion 2023;43(7):472-480
Objective:To investigated the prevalence of anxiety and depression symptoms in patients with colorectal polyps in part of Xinjiang area and to explore the associated influencing factors related to psychological status, and to provide evidence and clues to promote the diagnosis and treatment of psychosomatic diseases in digestive system.Methods:From December 2021 to June 2022, at the First Affiliated Hospital of Shihezi University, the Fourth Division Hospital of Xinjiang Production and Construction Corps, the Third Division Hospital of Xinjiang Production and Construction Corps (Kashgar Hospital), the Thirteenth Division Red Star Hospital of Xinjiang Production and Construction Corps, the Tenth Division Beitun Hospital of Xinjiang Production and Construction Corps, the Seventh Division Hospital of Xinjiang Production and Construction Corps, the Fifth Division Hospital of Xinjiang Production and Construction Corps, patients who underwent colonoscopy and colorectal polyps detected were enrolled. The generalized anxiety disorder scale-7 (GAD-7) was used to screen anxiety symptoms, and the patient health questionaire-8 (PHQ-8) was performed to screen depression symptoms, and the general situation questionnaire was used to collect clinical information of patients. The questionnairs were completed via the Questionnaire Star platform or paper questionnaire, and a database was established. The patients were divided into groups according to whether with anxiety and depression symptoms. Multivariable logistic regression models was performed to analyze the factors related to anxiety and depression.Results:A total of 516 questionnaires were distributed and collected, among which 9 questionnaires were incomplete and 507 questionnaires were valid, the effective rate of questionnaires was 98.26%. The detection rates of anxiety and depression symptoms in 507 patients with colorectal polyps were 21.50%(109/507) and 19.33%(98/507), respectively. The results of multivariable logistic analysis revealed that female ( OR=3.87, 95% confidence interval (95% CI) 2.30 to 6.51, P<0.001), maximum diameter of polyp ( OR=1.74, 95% CI 1.14 to 2.67, P=0.011), perception of polyps as cancer ( OR=13.96, 95% CI 1.48 to 132.07, P=0.022), and the occurrence of gastrointestinal symptoms after polyp detection ( OR=5.43, 95% CI 1.74 to 16.92, P=0.004) were independent risk factors of anxiety in patients with colorectal polyps. Female ( OR=2.42, 95% CI 1.47 to 4.00, P=0.001), the number of polyps ( OR=1.07, 95% CI 1.01 to 1.13, P=0.028) and the count of gastrointestinal symptoms ( OR=2.04, 95% CI 1.34 to 3.10, P=0.001) were independent risk factors of depression in patients with colorectal polyps. Conclusion:Gender, polyp size, number of polyps, disease perception, and concomitant gastrointestinal symptoms are associated with anxiety and depression in patients with colorectal polyps.
7.Effect of sitagliptin on expression of airway mucin 5AC in mice with endotoxin-induced lung injury
Jiajia WANG ; Miaomiao WEI ; Weiwei QIN ; Xiao ZHANG ; Fuguo MA ; Lixin SUN ; Wei HAN
Chinese Journal of Anesthesiology 2023;43(9):1124-1128
Objective:To evaluate the effect of sitagliptin on the expression of airway mucin 5AC (MUC5AC) in mice with endotoxin-induced lung injury.Methods:Thirty-six healthy male SPF C57BL/6 mice, aged 6-8 weeks, weighing 20-25 g, were divided into 3 groups ( n=12 each) using a random number table method: control group (group C), endotoxin-induced lung injury group (group L), and endotoxin-induced lung injury+ sitagliptin group (group S). Lipopolysaccharide (LPS) 3 mg/kg was intratracheally infused to prepare endotoxin-induced lung injury model in L and S groups, while the equal volume of normal saline was given instead in group C. Sitagliptin 100 mg/kg was intraperitoneally injected at 1 h before LPS infusion in group S, and normal saline was intraperitoneally injected at 1 h before endotracheal infusion in C and L groups. The arterial blood samples from femoral artery were taken at 24 h of LPS or normal saline infusion for measurement of PaO 2 and glucose levels.The mice were then sacrificed, and broncho-alveolar lavage fluid (BALF) and lung tissues were collected for determination of the concentrations of interleukin-6 (IL-6), interleukin-1beta (IL-1β), and tumor necrosis factor-alpha (TNF-α)in serum and BALF (by enzyme-linked immunosorbent assay), wet/dry weight ratio (W/D ratio), expression of MUC5AC (by immunohistochemistry and immunohistochemical comprehensive score), and expression of MUC5AC mRNA in lung tissues (by quantitative real-time polymerase chain reaction) and for examination of the pathological changes of lung tissues (using haematoxylin and eosin staining) which were scored. Results:Compared with group C, PaO 2 was significantly decreased, the glucose levels, W/D ratio and lung injury score were increased, the concentrations of IL-6, IL-1β and TNF-α in serum and BALF were increased, and the expression of MUC5AC mRNA in lung tissues was up-regulated in L and S groups( P<0.05). Compared with group L, PaO 2 was significantly increased, the glucose levels, W/D ratio and lung injury score were decreased, the concentrations of IL-6, IL-1β and TNF-α in serum and BALF were decreased, and the expression of MUC5AC mRNA in lung tissues was down-regulated in group S( P<0.05). Conclusions:The mechanism by which sitagliptin alleviates endotoxin-induced lung injury is related to down-regulation of MUC5AC expression in mice.
8.Pelvic exenteration for late complications of radiation-induced pelvic injury: a preliminary study
Yanjiong HE ; Zuolin ZHOU ; Qiyuan QIN ; Binjie HUANG ; Xiaoyan HUANG ; Jiamin LI ; Miaomiao ZHU ; Bing YAO ; Dejuan WANG ; Jianguang QIU ; Hui WANG ; Tenghui MA
Chinese Journal of Gastrointestinal Surgery 2023;26(10):940-946
Objective:To investigate the safety and efficacy of total pelvic exenteration (TPE) for treating late complications of radiation-induced pelvic injury.Methods:This was a descriptive case series study. The inclusion criteria were as follows: (1) confirmed radiation-induced pelvic injury after radiotherapy for pelvic malignancies; (2) late complications of radiation-induced pelvic injury, such as bleeding, perforation, fistula, and obstruction, involving multiple pelvic organs; (3) TPE recommended by a multidisciplinary team; (4) patient in good preoperative condition and considered fit enough to tolerate TPE; and (5) patient extremely willing to undergo the procedure and accept the associated risks. The exclusion criteria were as follows: (1) preoperative or intraoperative diagnosis of tumor recurrence or metastasis; (2) had only undergone diversion or bypass surgery after laparoscopic exploration; and (3) incomplete medical records. Clinical and follow-up data of patients who had undergone TPE for late complications of radiation-induced pelvic injury between March 2020 and September 2022 at the Sixth Affiliated Hospital of Sun Yat-sen University were analyzed. Perioperative recovery, postoperative complications, perioperative deaths, and quality of life 1 year postoperatively were recorded.Results:The study cohort comprised 14 women, nine of whom had recto-vagino-vesical fistulas, two vesicovaginal fistulas, one ileo-vesical fistula and rectal necrosis, one ileo-vesical and rectovaginal fistulas, and one rectal ulcer and bilateral ureteral stenosis. The mean duration of surgery was 592.1±167.6 minutes and the median blood loss 550 (100–6000) mL. Ten patients underwent intestinal reconstruction, and four the Hartmann procedure. Ten patients underwent urinary reconstruction using Bricker's procedure and 7 underwent pelvic floor reconstruction. The mean postoperative hospital stay was 23.6±14.9 days. Seven patients (7/14) had serious postoperative complications (Clavien-Dindo IIIa to IVb), including surgical site infections in eight, abdominopelvic abscesses in five, pulmonary infections in five, intestinal obstruction in four, and urinary leakage in two. Empty pelvis syndrome (EPS) was diagnosed in five patients, none of whom had undergone pelvic floor reconstruction. Five of the seven patients who had not undergone pelvic floor reconstruction developed EPS, compared with none of those who had undergone pelvic floor reconstruction. One patient with EPS underwent reoperation because of a pelvic abscess, pelvic hemorrhage, and intestinal obstruction. There were no perioperative deaths. During 18.9±10.1 months of follow-up, three patients died, two of renal failure, which was a preoperative comorbidity, and one of COVID-19. The remaining patients had gradual and significant relief of symptoms during follow-up. QLQ-C30 assessment of postoperative quality of life showed gradual improvement in all functional domains and general health at 1, 3, and 6 months postoperatively (all P<0.05). Conclusions:TPE is a feasible procedure for treating late complications of radiation-induced pelvic injury combined with complex pelvic fistulas. TPE is effective in alleviating symptoms and improving quality of life. However, the indications for this procedure should be strictly controlled and the surgery carried out only by experienced surgeons.
9.Pelvic exenteration for late complications of radiation-induced pelvic injury: a preliminary study
Yanjiong HE ; Zuolin ZHOU ; Qiyuan QIN ; Binjie HUANG ; Xiaoyan HUANG ; Jiamin LI ; Miaomiao ZHU ; Bing YAO ; Dejuan WANG ; Jianguang QIU ; Hui WANG ; Tenghui MA
Chinese Journal of Gastrointestinal Surgery 2023;26(10):940-946
Objective:To investigate the safety and efficacy of total pelvic exenteration (TPE) for treating late complications of radiation-induced pelvic injury.Methods:This was a descriptive case series study. The inclusion criteria were as follows: (1) confirmed radiation-induced pelvic injury after radiotherapy for pelvic malignancies; (2) late complications of radiation-induced pelvic injury, such as bleeding, perforation, fistula, and obstruction, involving multiple pelvic organs; (3) TPE recommended by a multidisciplinary team; (4) patient in good preoperative condition and considered fit enough to tolerate TPE; and (5) patient extremely willing to undergo the procedure and accept the associated risks. The exclusion criteria were as follows: (1) preoperative or intraoperative diagnosis of tumor recurrence or metastasis; (2) had only undergone diversion or bypass surgery after laparoscopic exploration; and (3) incomplete medical records. Clinical and follow-up data of patients who had undergone TPE for late complications of radiation-induced pelvic injury between March 2020 and September 2022 at the Sixth Affiliated Hospital of Sun Yat-sen University were analyzed. Perioperative recovery, postoperative complications, perioperative deaths, and quality of life 1 year postoperatively were recorded.Results:The study cohort comprised 14 women, nine of whom had recto-vagino-vesical fistulas, two vesicovaginal fistulas, one ileo-vesical fistula and rectal necrosis, one ileo-vesical and rectovaginal fistulas, and one rectal ulcer and bilateral ureteral stenosis. The mean duration of surgery was 592.1±167.6 minutes and the median blood loss 550 (100–6000) mL. Ten patients underwent intestinal reconstruction, and four the Hartmann procedure. Ten patients underwent urinary reconstruction using Bricker's procedure and 7 underwent pelvic floor reconstruction. The mean postoperative hospital stay was 23.6±14.9 days. Seven patients (7/14) had serious postoperative complications (Clavien-Dindo IIIa to IVb), including surgical site infections in eight, abdominopelvic abscesses in five, pulmonary infections in five, intestinal obstruction in four, and urinary leakage in two. Empty pelvis syndrome (EPS) was diagnosed in five patients, none of whom had undergone pelvic floor reconstruction. Five of the seven patients who had not undergone pelvic floor reconstruction developed EPS, compared with none of those who had undergone pelvic floor reconstruction. One patient with EPS underwent reoperation because of a pelvic abscess, pelvic hemorrhage, and intestinal obstruction. There were no perioperative deaths. During 18.9±10.1 months of follow-up, three patients died, two of renal failure, which was a preoperative comorbidity, and one of COVID-19. The remaining patients had gradual and significant relief of symptoms during follow-up. QLQ-C30 assessment of postoperative quality of life showed gradual improvement in all functional domains and general health at 1, 3, and 6 months postoperatively (all P<0.05). Conclusions:TPE is a feasible procedure for treating late complications of radiation-induced pelvic injury combined with complex pelvic fistulas. TPE is effective in alleviating symptoms and improving quality of life. However, the indications for this procedure should be strictly controlled and the surgery carried out only by experienced surgeons.
10.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
;
Genetic Predisposition to Disease
;
Genome-Wide Association Study
;
Humans
;
Polymorphism, Single Nucleotide
;
RNA, Long Noncoding/genetics*
;
Silicosis/genetics*

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