1.Genetic Correlation and Mendelian Randomization Analysis Revealed an Unidirectional Causal Relationship Between Left Caudal Middle Frontal Surface Area and Cigarette Consumption
Hongcheng XIE ; Anlin WANG ; Minglan YU ; Tingting WANG ; Xuemei LIANG ; Rongfang HE ; Chaohua HUANG ; Wei LEI ; Jing CHEN ; Youguo TAN ; Kezhi LIU ; Bo XIANG
Psychiatry Investigation 2025;22(3):279-286
Objective:
Previous studies have discovered a correlation between cigarette smoking and cortical thickness and surface area, but the causal relationship remains unclear. The objective of this investigation is to scrutinize the causal association between them.
Methods:
To derive summary statistics from a genome-wide association study (GWAS) on cortical thickness, surface area, and four smoking behaviors: 1) age of initiation of regular smoking (AgeSmk); 2) smoking initiation (SmkInit); 3) smoking cessation (SmkCes); 4) cigarettes per day (CigDay). Linkage disequilibrium score regression (LDSC) was employed to examine genetic association analysis. Furthermore, for traits with significant genetic associations, Mendelian randomization (MR) analyses were conducted.
Results:
The LDSC analysis revealed nominal genetic correlations between AgeSmk and right precentral surface area, left caudal anterior cingulate surface area, left cuneus surface area, left inferior parietal surface area, and right caudal anterior cingulate thickness, as well as between CigDay and left caudal middle frontal surface area, between SmkCes and left entorhinal thickness, and between SmkInit and left rostral anterior cingulate surface area, right rostral anterior cingulate thickness, and right superior frontal thickness (rg=-0.36–0.29, p<0.05). MR analysis showed a unidirectional causal association between left caudal middle frontal surface area and CigDay (βIVW=0.056, pBonferroni=2×10-4).
Conclusion
Left caudal middle frontal surface area has the potential to serve as a significant predictor of smoking behavior.
2.Genetic Correlation and Mendelian Randomization Analysis Revealed an Unidirectional Causal Relationship Between Left Caudal Middle Frontal Surface Area and Cigarette Consumption
Hongcheng XIE ; Anlin WANG ; Minglan YU ; Tingting WANG ; Xuemei LIANG ; Rongfang HE ; Chaohua HUANG ; Wei LEI ; Jing CHEN ; Youguo TAN ; Kezhi LIU ; Bo XIANG
Psychiatry Investigation 2025;22(3):279-286
Objective:
Previous studies have discovered a correlation between cigarette smoking and cortical thickness and surface area, but the causal relationship remains unclear. The objective of this investigation is to scrutinize the causal association between them.
Methods:
To derive summary statistics from a genome-wide association study (GWAS) on cortical thickness, surface area, and four smoking behaviors: 1) age of initiation of regular smoking (AgeSmk); 2) smoking initiation (SmkInit); 3) smoking cessation (SmkCes); 4) cigarettes per day (CigDay). Linkage disequilibrium score regression (LDSC) was employed to examine genetic association analysis. Furthermore, for traits with significant genetic associations, Mendelian randomization (MR) analyses were conducted.
Results:
The LDSC analysis revealed nominal genetic correlations between AgeSmk and right precentral surface area, left caudal anterior cingulate surface area, left cuneus surface area, left inferior parietal surface area, and right caudal anterior cingulate thickness, as well as between CigDay and left caudal middle frontal surface area, between SmkCes and left entorhinal thickness, and between SmkInit and left rostral anterior cingulate surface area, right rostral anterior cingulate thickness, and right superior frontal thickness (rg=-0.36–0.29, p<0.05). MR analysis showed a unidirectional causal association between left caudal middle frontal surface area and CigDay (βIVW=0.056, pBonferroni=2×10-4).
Conclusion
Left caudal middle frontal surface area has the potential to serve as a significant predictor of smoking behavior.
3.Genetic Correlation and Mendelian Randomization Analysis Revealed an Unidirectional Causal Relationship Between Left Caudal Middle Frontal Surface Area and Cigarette Consumption
Hongcheng XIE ; Anlin WANG ; Minglan YU ; Tingting WANG ; Xuemei LIANG ; Rongfang HE ; Chaohua HUANG ; Wei LEI ; Jing CHEN ; Youguo TAN ; Kezhi LIU ; Bo XIANG
Psychiatry Investigation 2025;22(3):279-286
Objective:
Previous studies have discovered a correlation between cigarette smoking and cortical thickness and surface area, but the causal relationship remains unclear. The objective of this investigation is to scrutinize the causal association between them.
Methods:
To derive summary statistics from a genome-wide association study (GWAS) on cortical thickness, surface area, and four smoking behaviors: 1) age of initiation of regular smoking (AgeSmk); 2) smoking initiation (SmkInit); 3) smoking cessation (SmkCes); 4) cigarettes per day (CigDay). Linkage disequilibrium score regression (LDSC) was employed to examine genetic association analysis. Furthermore, for traits with significant genetic associations, Mendelian randomization (MR) analyses were conducted.
Results:
The LDSC analysis revealed nominal genetic correlations between AgeSmk and right precentral surface area, left caudal anterior cingulate surface area, left cuneus surface area, left inferior parietal surface area, and right caudal anterior cingulate thickness, as well as between CigDay and left caudal middle frontal surface area, between SmkCes and left entorhinal thickness, and between SmkInit and left rostral anterior cingulate surface area, right rostral anterior cingulate thickness, and right superior frontal thickness (rg=-0.36–0.29, p<0.05). MR analysis showed a unidirectional causal association between left caudal middle frontal surface area and CigDay (βIVW=0.056, pBonferroni=2×10-4).
Conclusion
Left caudal middle frontal surface area has the potential to serve as a significant predictor of smoking behavior.
4.Genetic Correlation and Mendelian Randomization Analysis Revealed an Unidirectional Causal Relationship Between Left Caudal Middle Frontal Surface Area and Cigarette Consumption
Hongcheng XIE ; Anlin WANG ; Minglan YU ; Tingting WANG ; Xuemei LIANG ; Rongfang HE ; Chaohua HUANG ; Wei LEI ; Jing CHEN ; Youguo TAN ; Kezhi LIU ; Bo XIANG
Psychiatry Investigation 2025;22(3):279-286
Objective:
Previous studies have discovered a correlation between cigarette smoking and cortical thickness and surface area, but the causal relationship remains unclear. The objective of this investigation is to scrutinize the causal association between them.
Methods:
To derive summary statistics from a genome-wide association study (GWAS) on cortical thickness, surface area, and four smoking behaviors: 1) age of initiation of regular smoking (AgeSmk); 2) smoking initiation (SmkInit); 3) smoking cessation (SmkCes); 4) cigarettes per day (CigDay). Linkage disequilibrium score regression (LDSC) was employed to examine genetic association analysis. Furthermore, for traits with significant genetic associations, Mendelian randomization (MR) analyses were conducted.
Results:
The LDSC analysis revealed nominal genetic correlations between AgeSmk and right precentral surface area, left caudal anterior cingulate surface area, left cuneus surface area, left inferior parietal surface area, and right caudal anterior cingulate thickness, as well as between CigDay and left caudal middle frontal surface area, between SmkCes and left entorhinal thickness, and between SmkInit and left rostral anterior cingulate surface area, right rostral anterior cingulate thickness, and right superior frontal thickness (rg=-0.36–0.29, p<0.05). MR analysis showed a unidirectional causal association between left caudal middle frontal surface area and CigDay (βIVW=0.056, pBonferroni=2×10-4).
Conclusion
Left caudal middle frontal surface area has the potential to serve as a significant predictor of smoking behavior.
5.Genetic Correlation and Mendelian Randomization Analysis Revealed an Unidirectional Causal Relationship Between Left Caudal Middle Frontal Surface Area and Cigarette Consumption
Hongcheng XIE ; Anlin WANG ; Minglan YU ; Tingting WANG ; Xuemei LIANG ; Rongfang HE ; Chaohua HUANG ; Wei LEI ; Jing CHEN ; Youguo TAN ; Kezhi LIU ; Bo XIANG
Psychiatry Investigation 2025;22(3):279-286
Objective:
Previous studies have discovered a correlation between cigarette smoking and cortical thickness and surface area, but the causal relationship remains unclear. The objective of this investigation is to scrutinize the causal association between them.
Methods:
To derive summary statistics from a genome-wide association study (GWAS) on cortical thickness, surface area, and four smoking behaviors: 1) age of initiation of regular smoking (AgeSmk); 2) smoking initiation (SmkInit); 3) smoking cessation (SmkCes); 4) cigarettes per day (CigDay). Linkage disequilibrium score regression (LDSC) was employed to examine genetic association analysis. Furthermore, for traits with significant genetic associations, Mendelian randomization (MR) analyses were conducted.
Results:
The LDSC analysis revealed nominal genetic correlations between AgeSmk and right precentral surface area, left caudal anterior cingulate surface area, left cuneus surface area, left inferior parietal surface area, and right caudal anterior cingulate thickness, as well as between CigDay and left caudal middle frontal surface area, between SmkCes and left entorhinal thickness, and between SmkInit and left rostral anterior cingulate surface area, right rostral anterior cingulate thickness, and right superior frontal thickness (rg=-0.36–0.29, p<0.05). MR analysis showed a unidirectional causal association between left caudal middle frontal surface area and CigDay (βIVW=0.056, pBonferroni=2×10-4).
Conclusion
Left caudal middle frontal surface area has the potential to serve as a significant predictor of smoking behavior.
6.Prognostic value of difference between hematocrit and albumin in patients with sepsis.
Shaobo WANG ; Bin HUANG ; Yuxin XU ; Bingyu WEI ; Rongfang LONG ; Ying QIU
Chinese Critical Care Medicine 2025;37(7):633-637
OBJECTIVE:
To investigate the value of difference between hematocrit (HCT) and albumin (Alb) in predicting the prognosis of patients with sepsis.
METHODS:
A retrospective study was conducted on the septic patients hospitalized at the First Affiliated Hospital of Guangxi Medical University from January to October in 2024. Clinical data including gender, age, body mass index (BMI), history of hypertension or diabetes, vital signs on admission, and sequential organ failure assessment (SOFA) score, acute physiology and chronic health evaluation II (APACHE II) score, blood lactic acid (Lac), oxygenation index (PaO2/FiO2), hemoglobin (Hb), white blood cell count (WBC), platelet count (PLT), lymphocyte count (LYM), HCT, Alb, difference between HCT and Alb, bilirubin, scrum creatinine (SCr), and fibrinogen (Fib) within 48 hours of admission were collected. The 28-day prognosis of patients was also recorded. Binary multivariate Logistic regression analysis was used to identify risk factors for 28-day death in patients with sepsis. The predictive efficacy of the difference between HCT and Alb on 28-day death was evaluated using the receiver operator characteristic curve (ROC curve).
RESULTS:
Among 180 enrolled septic patients, 140 survived and 40 died on 28 days. Compared with the survival group, the patients in the death group was significantly older (years old: 64±16 vs. 55±15, P < 0.05), and had higher SOFA score, APACHE II score, and SCr [SOFA score: 6 (4, 9) vs. 3 (2, 5), APACHE II score: 13 (10, 18) vs. 8 (6, 11), SCr (μmol/L): 136 (70, 416) vs. 77 (58, 126), all P < 0.05] as well as lower Hb, PLT, HCT, difference between HCT and Alb, and Fib within 48 hours of admission [Hb (g/L): 90±30 vs. 106±79, PLT (×109/L): 158 (57, 240) vs. 215 (110, 315), HCT: 0.258±0.081 vs. 0.333±0.077, difference between HCT and Alb: -6.52±7.40 vs. 1.07±7.63, Fib (g/L): 3.72±1.57 vs. 4.59±1.55, all P < 0.05]. No significant difference in gender, BMI, history of hypertension or diabetes, vital signs on admission, or other laboratory indicators was found between the two groups. Binary multivariate Logistic regression analysis revealed that age [odds ratio (OR) = 1.040, 95% confidence interval (95%CI) was 1.004-1.078, P = 0.030], APACHE II score (OR = 1.218, 95%CI was 1.038-1.430, P = 0.016), Hb (OR = 1.040, 95%CI was 1.014-1.068, P = 0.003), and difference between HCT and Alb (OR = 0.804, 95%CI was 0.727-0.889, P < 0.001) were independent risk factors for 28-day death of septic patients. ROC curve analysis showed that the area under the ROC curve (AUC) of difference between HCT and Alb for predicting 28-day death of septic patients was 0.764 (95%CI was 0.679-0.849, P < 0.001). A cut-off value of difference between HCT and Alb ≤ -5.35 yielded a sensitivity of 80.7% and specificity of 65.0%.
CONCLUSIONS
The difference between HCT and Alb at early admission is a valuable predictor of prognosis in septic patients. A difference ≤ -5.35 indicates an increased death risk of septic patients.
Humans
;
Prognosis
;
Sepsis/blood*
;
Retrospective Studies
;
Hematocrit
;
Serum Albumin/analysis*
;
Male
;
Female
;
Middle Aged
;
Aged
;
APACHE
7.Clinicopathological and molecular genetic features of neuromuscular choristoma-associated desmoid type fibromatosis
Rongfang DONG ; Wen GUO ; Nan LI ; Ziyi WANG ; Xiaoqi SUN ; Yi DING
Chinese Journal of Pathology 2024;53(7):685-690
Objective:To investigate the clinicopathological and genetic characteristics of neuromuscular choristoma-associated desmoid type fibromatosis (NMC-DF).Methods:The clinical morphological and immunohistochemical features of 7 NMC-DF cases diagnosed from January 2013 to January 2023 in Beijing Jishuitan Hospital were retrospectively analyzed. A series of neuromuscular choristoma and neuromuscular choristoma-associated desmoid type fibromatosis were evaluated for CTNNB1 mutations, and hotspot mutations for CTNNB1 were tested in 4 NMC-DF cases using Sanger sequencing.Results:The tumors were collected from 3 females and 4 males, aged 1 to 22 years (mean 7.1 years), involving the sciatic nerve ( n=4), brachial plexus ( n=2) or multiple nerves ( n=1). The course of the disease spanned from 3 months to 10 years. Two cases were recurrent tumors. All the 7 NMC cases showed endoneurial intercalation of mature skeletal muscle fibers among the peripheral nerve fascicles, and the histologic features of the NMC-DF were strikingly similar to the conventional desmoid-type fibromatosis. By immunohistochemistry, all NMC and NMC-DF cases showed aberrant nuclear staining of β-catenin (7/7), the muscle cells in NMC were intensely immunoreactive for desmin, and the admixed nerve fibers were highlighted by NF and S-100 (7/7). Four NMC and NMC-DF had CTNNB1 mutations, 3 c.121A>G (p.T41A) and 1 c.134C>T (p.S45F). Follow-up of the 7 cases, ranging from 22 to 78 months, showed tumor recurrence in 2 patients at 3 and 8 months respectively after the first surgical resection, of which 1 patient underwent above-knee amputation. No recurrence occurred in other cases with tumor excision and neurological reconstruction surgery. There was no metastasis occurred in the 7 cases. Conclusions:NMC is a rare congenital lesion with differentiated mature skeletal muscle tissue found in peripheral nerve fascicles, and approximately 80% of patients with NMC develop a soft tissue fibromatosis. CTNNB1 mutation in the Wnt signaling pathway may be involved in the pathogenesis of NMC and NMC-DF, and S45F mutations seems to have a higher risk of disease progression.
8.Identification of novel genetic loci associated with major depressive disorder and the hippocampus in a European population using the condFDR method
Qing DU ; Minglan YU ; Xuemei LIANG ; Tingting WANG ; Rongfang HE ; Wei LEI ; Jing CHEN ; Chaohua HUANG ; Kezhi LIU ; Bo XIANG
Chinese Journal of Medical Genetics 2024;41(7):769-775
Objective:To identify additional loci associated with depression and the hippocampus (HIP) through genome-wide association study.Methods:The depression-related genome-wide association study (GWAS) meta summary data was downloaded from the official website of the Psychiatric Genomics Consortium, which had involved 170 756 cases and 329 443 controls. The left and right hippocampal volume GWAS data sets were downloaded from the UK Biobank, which involved 33 224 participants. The conditional false discovery rate (condFDR) was used to identify novel genetic loci for depression and left and right hippocampal volumes, and a conjunctional false discovery rate (conjFDR) was used to evaluate the enrichment of pleiotropic loci between depression and left and right hippocampal volumes.Results:Respectively, 7, 13, and 12 new loci have been associated with depression, left hippocampal volume and right hippocampal volume, with a significant threshold of condFDR < 0.01. A site of rs1267073 locus was found to be shared by the depression and right hippocampal volume with a threshold of conjFDR < 0.01.Conclusion:Above findings have provided more insights into the genetic mechanisms underlying the volume of hippocampus and the risk for depression. The results may also provide evidence for future clinical trials for treating depression.
9.Relationship between white matter microstructural features and cognitive function in patients with bipolar disorder
Junfan LIANG ; Hua LIU ; Xinyin GUO ; Xuehua LI ; Jixiang YUAN ; Minglan YU ; Tingting WANG ; Rongfang HE ; Bo XIANG ; Kezhi LIU ; Xuemei LIANG
Chinese Mental Health Journal 2024;38(10):833-839
Objective:To explore the white matter structural characteristics in patients with bipolar disorder(BD)using diffusion tensor imaging(DTI)and investigate their relationship with cognitive function.Methods:A total of 15 patients with BD type Ⅰ and 26 patients with BD type Ⅱ who met the Diagnostic and Statistical Manual of Mental Disorders,Fourth Edition(DSM-Ⅳ)diagnostic criteria and 37 normal controls were included.Cognitive function was assessed with the Trail Making Test(TMT)and Repeatable Battery for the Assessment of Neuropsy-chological Status(RBANS).The tract-based spatial statistics(TBSS)method was used to explore the differences in fractional anisotropy(FA)and mean diffusivity(MD)among the three groups and perform correlation analyses with cognitive function.Results:Patients with BD Ⅰ and BD Ⅱ had lower scores in attention(P<0.001),delayed memory(P<0.01),and total scores(P<0.001)on the RBANS compared to the normal control group.They also exhibited lower FA values in the corpus callosum and right superior corona radiata compared to the normal control group(P<0.05).In the BD Ⅰ group,there was a positive correlation between FA values in the genu of corpus cal-losum and visuospatial/constructional scores(r=0.74,P<0.05),while in the BD Ⅱ group,a positive correlation was found between FA values in the same region and language function scores(r=0.55,P<0.05).Conclusion:It suggests that patients with bipolar disorder may have impaired white matter integrity in the corpus callosum and right superior corona radiata,which may be associated with cognitive impairment.
10.Effects of Xinkang Granules-contained Serum on the Proliferation of Cardiac Fibroblasts via Regulating GAS5-miR21
Rongfang LIU ; Bing GUO ; Yi YU ; Yuan LI ; Min WANG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(9):102-109
Objective To observe the effects of Xinkang Granules-contained serum on the proliferation of cardiac fibroblasts(CFs)induced by angiotensin Ⅱ(Ang Ⅱ);To explore its mechanism of inhibiting the proliferation of CFs.Methods Taking out the heart of SD suckling rats,extracting the CFs from the hearts by differential attachment,and then they were used to replicate cell proliferation model induced by Ang Ⅱ.After transfection with miR-21 overexpressing lentivirus and growth arrest specific transcript 5(GAS5)silencing lentivirus,Xinkang Granules-contained serum was intervened for 24 hours,respectively.Cell viability was detected by cell CCK-8 method,cell cycle was detected by flow cytometry,α-smooth muscle actin(α-SMA)was detected by immunofluorescence,RT-qPCR was used to detect the mRNA expression of GAS5,miR-2l,phosphatase and tensin homolog(PTEN),Western blot was used to detect the expressions of PTEN,protein kinase B(Akt),Cyclin D1 and cyclin-dependent kinase 4(CDK4)protein.Results Compared with the blank group,the activity of CFs in the model group increased,the proportion of G0/G1 phase cells decreased,the proportion of S phase cells increased,the positive expression of α-SMA increased,the expressions of GAS5,PTEN mRNA and PTEN protein decreased,the expressions of miR-21 mRNA and Akt,Cyclin D1,CDK4 protein increased,with statistical significance(P<0.05).Compared with the model group,the activity of CFs in the Xinkang Granules group decreased,the proportion of G0/G1 phase cells increased,the proportion of S phase cells decreased,the positive expression of α-SMA decreased,the expressions of GAS5,PTEN mRNA and PTEN protein increased,while the expressions of miR-21 mRNA and Akt,Cyclin D1 and CDK4 protein decreased;The activity of CFs increased in the miR-21 overexpression group and the GAS5 silencing group,and the proportion of G0/G1 phase cells decreased,the proportion of S phase cells increased,and the positive expression of α-SMA increased,the expressions of GAS5,PTEN mRNA and PTEN protein decreased,while the expressions of miR-21 mRNA and Akt,Cyclin D1 and CDK4 protein increased,with statistical significance(P<0.05).Compared with the miR-21 overexpression group and the GAS5 silencing group,the miR-21 overexpression+Xinkang Granules group and the GAS5 silencing+Xinkang Granules group showed a decrease in CFs activity and an increase in the proportion of G0/G1 phase cells,the proportion of S phase cells decreased,the positive expression of α-SMA decreased,the expressions of GAS5,PTEN mRNA and PTEN protein increased,and the expressions of miR-21 mRNA and Akt,Cyclin D1,CDK4 protein decreased,with statistical significance(P<0.05).Conclusion Xinkang Granules-contained serum can inhibit the increase of miR-21 and Akt expression caused by silence GAS5,resist the decrease of GAS5 and PTEN caused by overexpress miR-21,inhibit the proliferation cycle of CFs,promote GAS5 to play the role of"molecular sponge",and improve the excessive proliferation of CFs induced by Ang Ⅱ.

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