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Objective: Due to genetic factors might increase the risk of depression, this study investigated the genetic risk factors of depression in Chinese Han population by analyzing the association between 13 candidate genes and depression. Methods: 439 depression patients and 464 healthy controls were included in this case-control study. Case group consisted of 158 males and 281 females, aged (29.84±14.91) years old, who were hospitalized in three departments of the affiliated Brain Hospital of Guangzhou Medical University including Affective Disorders Department, Adult Psychiatry Department and Geriatrics Department, from February 2020 to September 2021. The control group consisted of 196 males and 268 females, aged (30.65±12.63) years old. 20 loci of 13 candidate genes in all subjects were detected by MALDI-TOF mass spectrometry. Age difference was compared using the student's t-test, the distributions of gender and genotype were analyzed with Pearson's Chi-square test. The analyses of Hardy-Weinberg equilibrium, allele frequency and the genetic association of depression were conducted using the corresponding programs in PLINK software. Results: PLINK analysis showed that SCN2A rs17183814, ABCB1 rs1045642, CYP2C19*3 rs4986893 and NAT2*5A rs1799929 were associated with depression before Bonferroni correction (χ2=10.340, P=0.001; χ2=11.010, P=0.001; χ2=9.781, P=0.002; χ2=4.481, P=0.034). The frequencies of minor alleles of above loci in the control group were 12.07%, 43.64%, 2.59% and 3.88%, respectively. The frequencies of minor alleles of loci mentioned above in the case group were 17.43%, 35.99%, 5.47% and 6.04%, respectively. OR values were 1.538, 0.726, 2.178 and 1.592, respectively. After 1 000 000 permutation tests using Max(T) permutation procedure, the four loci were still statistically significant, the empirical P-value were 0.002, 0.001, 0.003 and 0.042, respectively. However, only three loci including SCN2A rs17183814, ABCB1 rs1045642 and CYP2C19 rs4986893 had statistical significance after Bonferroni correction, the adjusted P-value were 0.026, 0.018 and 0.035, respectively. Conclusion: SCN2A rs17183814, ABCB1 rs1045642 and CYP2C19*3 rs4986893 were associated with depression's susceptibility in Chinese Han population. The A allele of SCN2A rs17183814 and CYP2C19*3 rs4986893 were risk factors for depression, while the T allele of ABCB1 rs1045642 was a protective factor for depression.
Subject(s)
Adolescent , Adult , Female , Humans , Male , Young Adult , ATP Binding Cassette Transporter, Subfamily B/genetics , Alleles , Arylamine N-Acetyltransferase/genetics , Case-Control Studies , Clopidogrel , Cytochrome P-450 CYP2C19/genetics , Depressive Disorder, Major/genetics , Gene Frequency , Genetic Predisposition to Disease , Genotype , Polymorphism, Single NucleotideABSTRACT
Objective To genotype mixed samples with next generation sequencing and evaluate its prospects in forensic DNA application. Methods Three mixed biological samples from rapes cases and their reference samples were collected. DNA was extracted using the MagAttract M48 DNA Manual Kit(200). The ForenSeqTMDNA Signature Prep Kit was used for library preparation, and next generation sequencing was performed on the MiSeq FGx system. The ForenSeqTMUniversal Analysis v1.2.1 software was used for data analysis. NGS-based STR results were compared with CE-based genotypes. Results A single length polymorphic STR allele in the mixed profile could be recognized as two sequence polymorphic STR alleles from different donors, which would assist mixed profile analysis. Such phenomenon was observed in D3S1358, D9S1122 and D13S317 in this work. Conclusion Our results suggested that precision STR genotyping of mixed samples based on NGS can provide more information and hints for mixed STR profile separation.
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Objective To study the correlation between the polymorphisms of NR3C1 gene and aggressive behavior in Yunnan Han population.Methods Five SNPs of the NR3C1 gene (rs6190,rs6191,rs6198,rs41423247 and rs56149945) were genotyped in 194 unrelated prisoners who committed violent-crimes and 301 healthy controls using improved Multiplex-ligase-detection reaction(iMLDR) method,and the data were statistically analyzed with the SPSS19.0soflware and PHASE2.1platform.Results Single locus analysis showed that the allelic distribution of rs6191and rs41423247did not show significant differencesbetween the control groupand the aggressive-behavior group as well as the robbery sub-group and intentional injury sub-group.However,significant difference was foundin the rs41423247 genotype distribution betweencontrol groupand robbery sub-group (p=0.048).In addition,there were no significant differences for the four haplotypes between the control group,the attack group,the robbery subgroup and the intentional injury subgroup.Conclusion These findings indicate that rs41423247 polymorphism of the NR3C1gene might play a role in susceptibility to aggressive behavior and rs6191 polymorphismmay not be correlated withaggressive behavior.
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Epigenetics is the study of heritable changes in gene expression other than the changes in the underlying DNA sequence. Such changes include DNA methylation,genomic imprinting,X chromosome inactivation and non-coding RNA regulation. Recent progresses on epigenetics offer new ideas to tackling these problems in forensic science,including determination of the necessary allele in paternity,identification of fetal paternity testing in embryonic period,discrimination of identical twins,origination analysis of tissue,and individual age estimation. This review focuses on the main concept of epigenetics and its application in the field of forensic science.
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ObjectiveTo investigate the clinical value of serum complement C3 and C4 levels for predicting the severity of hepatic fibrosis in patients with chronic hepatitis B.MethodsHistopathological diagnosis was confirmed in 442 patients with chronic hepatitis B.Serum complement C3 and C4 levels were determined by Beckman-Coulter Immage 800 immunochemistry system.ROC curve was used to analyze the value of serum complement C3 and C4 levels in predicting the severity of hepatic fibrosis.ResultsThe areas under ROC curve of complement C3 and C4 for predicting significant fibrosis ( ≥ S2),severe fibrosis ( ≥ S3) and cirrhosis (S4) were all significantly larger than the area under diagonal reference line ( P =0.009,0.000,0.000 and P =0.005,0.000,0.000,respectively).According to ROC curves,the optimal cut-offs of serum complement G3 for predicting severe fibrosis and cirrhosis were ≤0.74 g/L and ≤0.64 g/L,and the corresponding sensitivity,specificity,positive predictive value,negative predictive value,accuracy were 0.585,0.681,0.617,0.650,0.636 and 0.509,0.775,0.423,0.830,0.710,respectively.The optimal cut-offs of serum complement C4 for predicting severe fibrosis and cirrhosis were ≤0.14 g/L and ≤0.12 g/L,and the corresponding sensitivity,specificity,positive predictive value,negative predictive value,accuracy were 0.565,0.634,0.576,0.623,0.602 and 0.463,0.781,0.407,0.818,0.704,respectively.ConclusionSerum complement C3 and C4 may be used for predicting severe fibrosis and cirrhosis in patients with chronic hepatitis B,but its stability and reliability need to be improved.
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Objective To assess the value of enhanced multislice spiral CT (MSCT) scan using fat-dense enema for the staging of colorectal carcinoma.Methods 33 cases with colorectal carcinoma confirmed by colonoscopy were examined by enhanced MSCT scan ,from the dome of the diaphragm to symphysis pubica,after bowel cleaning,administration of smooth muscle relaxant, and rectal fat-dense contrast agent insuffation .Carcinomas were staged with TNM by axial,multiplannar reconstruction(MPR) and CT virtual endoscopy (CTVE) images. The staging results on CT were compared with that of postoperative pathological examination in all cases.Results All the 33 colorectal carcinoma were demonstrated clearly by MSCT ,the total accurate rate in staging with the TNM classification was 78.78%.The sensitivity and positive accurate values for T staging were 100%and 87.88%(29/33),respectively. The sensitivity and positive accurate values for in detecting lymph node involvement were 86.36%(19/22)and 68.18%(15/22), respectively. Five cases in M stage were all diagnosed correctly. Conclusion Using fat-dense contrast medium and enhanced multislice spiral CT is of very important value in staging of colorectal carcinoma.
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Objective To evaluate tear ferning changes of conjunctivochalasis.Design Prospective case study series.Partici- pants 30 patients(60 eyes)of conjunctivochalasis and normal subjects were selected.Methods The subjects were observed with gen- eral ophthalmic examination and tear fern test(TFT).Tear ferning was classified into 4 types.TypeⅠand TypeⅡare normal.TypeⅢand TypeⅣare abnormal.Main Outcome Measures The type of tear feming.Results TFT showed that tear ferning was de- creased in conjunctivochalasis group(TypeⅢand TypeⅣoccupied 61.7%).The difference between conjunctivoehalasis and normal control group was significant(P
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The potency and safety of thyroid artery embolization by Pingyangmycin Lipiodol Emulsion(PLE) were observed. The results suggested that PLE is a potential embolization agent in interventional therapy of hyperthyroidism with relative safety and efficacy.