OBJECTIVETo explore the association between monoamine oxidase A (MAOA) variable number tandem repeat (VNTR) polymorphism and major depression in Chinese Han population.

METHODSPolymerase chain reaction was used to genotype MAOA VNTR polymorphism. A total of 512 major depression patients and 566 normal controls were recruited in our study. These patients were also assessed using the 14-item Hamilton anxiety scale. RESULTS The allele frequency of MAOA VNTR was not significantly different between the male/female major depression patients and the normal controls. Compared with the normal controls, MAOA VNTR genotype was significantly more frequent in female major depression patients (P=0.002), but not in male patients (P=0.17). MAOA VNTR-L carrier was also associated with "fear" symptom in female patients (P=0.0056).

CONCLUSIONMAOA gene is associated with the major depression in Chinese Han population, especially among female patients.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; Depressive Disorder, Major ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Minisatellite Repeats ; genetics ; Monoamine Oxidase ; genetics ; Polymorphism, Genetic ; Promoter Regions, Genetic ; genetics ; Young Adult

OBJECTIVETo explore the genetic association between protein tyrosine phosphatase receptor type R (PTPRR) gene polymorphism and major depressive disorder (MDD) and its endophenotype.

METHODSA total of 517 unrelated MDD patients and 455 unrelated healthy subjects were recruited in this study to detect 11 single nucleotide polymorphisms (SNPs) in the PTPRR locus. They all were of the Chinese Han origin. Genotyping of SNPs was performed by matrix assisted laser desorption ionisation time-of-flight mass spectrometry (MALDI-TOF-MS) -based genotyping approach. The UNPHASED program was applied to analyze the genotyping data.

RESULTSOf the 11 selected SNPs, no significant allelic and genotypic association was found between MDD patients and the normal controls (corrected P > 0.05). However, analysis of haplotypes showed that the three SNPs haplotype rs1398599 (C) -rs2175711 (A) - rs4489789 (T) (P = 0.0023, OR = 1.334, 95% CI = 1.104-1.612) and four SNPs haplotype rs11178391 (C) -rs1398599 (C) -rs2175711 (A)-rs4489789(T) (P = 0.0063, OR = 1.281, 95% CI = 1.059-1.549) were associated with increased risk of MDD. Quantitative trait analysis revealed that rs2203231 in the PTPRR locus had strong allelic and genotypic association with the raw score of long-term memory (P = 0.0038 for allelic association, P = 0.0024 for genotypic association), the scaled score of long-term memory (P = 0.0057 for allelic association, P = 0.0038 for genotypic association), the raw score of short-term memory (P = 0.0027 for allelic association, P = 0.0015 for genotypic association), and the scaled score of short-term memory (P = 0.0035 for allelic association, P = 0.002 for genotypic association) in MDD patients.

CONCLUSIONThe polymorphism of PTPRR gene rs2203231 may be associated with the impairment of long-term and short-term memories in MDD patients.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Depressive Disorder, Major ; genetics ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Receptor-Like Protein Tyrosine Phosphatases, Class 7 ; genetics ; Young Adult

BACKGROUNDRecent studies have suggested that susceptibility to major depressive disorder (MDD) might be related to the serotonin 1A receptor (5-HTR1A) C (-1019) G polymorphism. In this study, we aimed to assess the association between 5-HTR1A C (-1019) G polymorphism and MDD in the Northern Han ethnic group of China.

METHODSThe C (-1019) G of 5-HTR1A was detected with polymerase chain reaction (PCR) in 400 patients with MDD and 400 unrelated age- and sex-matched healthy control subjects. Association between the C (-1019) G and MDD was statistically analyzed.

RESULTSThere was a statistically significant difference between MDD patients and controls in both the genotype distribution (Chi(2) = 10.913, df = 2, P = 0.004) and the allele frequency (Chi(2) = 10.379, df = 1, P = 0.001), and a significant difference in the genotype distribution and the allele frequency was found both in the female subjects (Genotype distribution: Chi(2) = 15.406, df = 2, P = 0.000; allele frequency: Chi(2) = 15.552, df = 1, P = 0.000) and the late-onset subjects (Genotype distribution: Chi(2) = 7.771, df = 2, P = 0.021; allele frequency: Chi(2) = 8.007, df = 1, P = 0.005) in the two groups.

CONCLUSIONThese results suggest that 5-HTR1A C (-1019) G polymorphism is probably associated with MDD and it is likely to be the susceptible gene locus for the female and late-onset MDD.

Adult ; Asian Continental Ancestry Group ; genetics ; China ; Depressive Disorder, Major ; ethnology ; genetics ; pathology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptor, Serotonin, 5-HT1A ; genetics

OBJECTIVETo investigate whether genomic copy number variants (CNVs), within metabotropic glutamate receptors 7 (GRM 7) gene are associated with schizophrenia.

METHODSWe examined CNVs in conserved region of GRM7 using real time quantitative PCR among 180 Chinese schizophrenia cases and 33 normal controls. Products of real time quantitative PCR were sequenced bilaterally.

RESULTSReal time quantitative PCR found that a biallelic deletion existed at the 200 bps up-stream of exon 2 in a schizophrenia patient and a monoallelic deletion existed at this site in another 13 schizophrenia patients and a control subject. However, sequencing results showed a substitution of C to G at the 5bp up-stream of 3' end of reverse primer for real time PCR (GRM7-SV-1R). In addition, samples with this variant were exactly those having biallelic or monoallelic deletions, indicating that the results of the real time PCR were caused by the substitution variant at the 3' end of the primer rather than a bona fide genome deletion.

CONCLUSIONSReal-time quantitative PCR combined with sequencing can avoid false positive deletions and therefore is effective in detecting CNVs. According to our results, CNVs in GRM 7 gene is not associated with schizophrenia in the Han Chinese population. However, some potential rare CNVs may still have such relationship, and require further study.

Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; DNA Copy Number Variations ; Female ; Humans ; Male ; Mutation ; Receptors, Metabotropic Glutamate ; genetics ; Schizophrenia ; genetics

OBJECTIVESTo explore the relationships between the peripheral blood levels of CD61, CD63, PAC-1 and the incidence of acute rejection and tubular necrosis after renal transplantation, and recovery of the graft function.

METHODSThe peripheral blood levels of CD61, CD63, and PAC-1 of 86 patients with uremia in different stages before and after transplantations were analyzed by flow cytometry. The patients were divided into three groups: (1) twenty-nine patients with normal grafts function, (2) hirty with acute rejection and (3) twenty-seven with acute tubular necrosis. The patients with acute rejection were randomly divided into treatment group with anticoagulants and cntrol group.

RESULTSThe peripheral blood levels of CD61, CD63 and PAC-1 significantly increased (P < 0.05) in the patients with acute rejection, in comparison with those with normal grafts function and those with acute tubular necrosis. The peripheral blood levels of CD61, CD63 and PAC-1 in patients with acute rejection in anticoagulants therapy was lower, recovery time of the grafts function was shorter, one-year survival rates of patients and grafts were higher, as compared with those of controls.

CONCLUSIONSThe patients with acute rejection have significantly high peripheral blood levels of CD61, CD63 and PAC-1 before transplantation, however, these values in patients with acute tubular necrosis are not high, this suggesting that acute rejection might relate to platelet activation, while acute tubular necrosis might not relate to it. After anticoagulants therapy in patients with acute rejection, the grafts function might recover faster and their one-year survival rates and grafts might be higher in those with CD61, CD63 and PAC-1 decreasing remarkably.

Adult ; Aged ; Antigens, CD ; blood ; Dual Specificity Phosphatase 2 ; Female ; Graft Rejection ; Humans ; Integrin beta3 ; blood ; Kidney ; physiopathology ; Kidney Transplantation ; Male ; Middle Aged ; Platelet Activation ; Platelet Membrane Glycoproteins ; Protein Phosphatase 2 ; Protein Tyrosine Phosphatases ; blood ; Tetraspanin 30

Objective: To analyze the morbidity and mortality trends of thyroid cancer in China from 1990 to 2019, explore the causes of the trends, and predict morbidity and mortality in the future. Methods: The morbidity and mortality data of thyroid cancer in China from 1990 to 2019 were collected from the 2019 Global Burden of Disease database. The Joinpoint regression model was used to describe the change trends. Based on the morbidity and mortality data from 2012 to 2019, a grey model GM (1,1) was constructed to predict the trends in the next ten years. The model was tested by the posterior error method and residual test method. Results: In all populations, men and women, the AAPC values of the crude morbidity rates were 4.15% (95%CI: 3.86%-4.44%, P<0.001), 5.98% (95%CI: 5.65%-6.31%, P<0.001) and 3.23% (95%CI: 2.94%-3.53%, P<0.001) respectively, the AAPC values of age-standardized morbidity rates were 2.47% (95%CI: 2.12%-2.83%, P<0.001), 3.98% (95%CI: 3.68%-4.29%, P<0.001), 1.65% (95%CI: 1.38%-1.93%, P<0.001), the AAPC values of crude mortality rates were 2.09% (95%CI: 1.92%-2.25%, P<0.001), 3.68% (95%CI: 3.45%-3.90%, P<0.001), 0.60% (95%CI: 0.50%-0.71%, P<0.001). The age-standardized mortality rates in men showed a fluctuating trend of first decrease (1990-1994), then increase (1994-2012), and then decrease (2012-2019) (AAPC=1.35%, 95%CI: 1.16%-1.53%, P<0.001). The age-standardized mortality rate in women continuously decreased (AAPC=-1.70%, 95%CI: -1.82%- -1.58%, P<0.001). The GM (1,1) models can be used for medium and long-term predictions. The results of the residual test show that the average relative error values of all models are less than 10.00%, the prediction accuracy values are more than 80.00%, and the prediction effects are good. The results of the posterior error method show that all the prediction results are good except the qualified prediction of the age-standardized morbidity rate in men. In 2029, the crude morbidity rates would increase to 3.57/100 000, 2.78/100 000, and 4.40/100 000, respectively, and the age-standardized incidence rates would increase to 2.38/100 000, 1.89/100 000, and 2.88/100 000, respectively, the crude mortality rates would increase to 0.57/100 000, 0.62/100 000 and 0.53/100 000, and the age-standardized mortality rates would decrease to 0.33/100 000, 0.42/100 000 and 0.27/100 000 in all population, men and women in China. Conclusions: The overall, gender- specific age-standardized mortality rates showed downward trends in the last decade or so, and the prediction results showed that it might further decline. However, the crude morbidity rates, age-standardized and crude mortality rates have been on the rise, and the population aging is becoming increasingly serious in China, which requires close attention and targeted prevention and control measures.
Male ; Humans ; Female ; Morbidity ; Thyroid Neoplasms/epidemiology* ; Aging ; China/epidemiology*