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Background Ghrelin, in humans, is a hormone secreted from the stomach with an orexigenic effect, which is good for digestion and absorption, as well as regulating physical growth, metabolism, and energy balance. It is also involved in the development of metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM). This study assessed the association between single nucleotide variants of the GHRL gene and the risk of metabolic syndrome in a Han Chinese population. Methods A case-control study was performed on 3780 Han Chinese comprising 1813 MetS cases and 1967 controls. Three missense polymorphisms in GHRL (rs26802, rs10490816, and rs696217) were selected, and the association between these polymorphisms and the risk of MetS was investigated. Metabolic syndrome was defined according to the criteria of the International Diabetes Federation (IDF). Results Using Pearson's 2 test, we found that there were no significant differences in genotype distributions and allele frequencies between cases and controls (all p > 0.05). There were also no significant differences in haplotype distributions between MetS cases and healthy controls. Furthermore, we confirmed that rs26802 of the GHRL gene is associated with body mass index (BMI), waist circumference, systolic blood pressure (SBP), and fasting glucose; rs10490816 is associated with triglycerides (TG) and total cholesterol (TC); while rs696217 is associated with hip circumference and fasting glucose. Conclusions We concluded that mutations in the GHRL gene did not confer risk for MetS in our study population. Therefore, functional analysis and replication studies in other populations are needed to further investigate the exact role of the GHRL gene in MetS.

Rural–urban differences in the prevalence of chronic diseases in the adult population of northeast China are examined. The Jilin Provincial Chronic Disease Survey used personal interviews and physical measures to research the presence of a range of chronic diseases among a large sample of rural and urban provincial residents aged 18 to 79 years (N = 21 435). Logistic regression analyses were used. After adjusting for age and gender, rural residents had higher prevalence of hypertension, chronic ischemic heart disease, cerebrovascular disease, chronic low back pain, arthritis, chronic gastroenteritis/peptic ulcer, chronic cholecystitis/gallstones, and chronic lower respiratory disease. Low education, low income, and smoking increased the risk of chronic diseases in rural areas. Reducing rural–urban differences in chronic disease presents a formidable public health challenge for China. The solution requires focusing attention on issues endemic to rural areas such as poverty, lack of chronic disease knowledge, and the inequality in access to primary care.

Papillary thyroid cancer (PTC) is the most common type of thyroid cancer, yet few genetic markers of PTC risk useful for screening exist. Our study aimed to evaluate the association between single nucleotide polymorphisms (SNPs) of the ataxia telangiectasia mutated (ATM) gene and PTC risk. 358 patients with PTC and 360 healthy controls were included in the case-control study. Four ATM SNPs (rs664677, rs373759, rs4988099, and rs189037) were genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). The analysis of genetic data was performed using the SNPStats program. The allele frequencies and genotype distributions of the four ATM SNPs were not different between PTC patients and controls. We did not observe any tendency of increasing the frequency of the risk allele from controls, patients without metastasis to patients with metastasis (P(trend) > 0.05). Interestingly, the AG genotype of rs373759 was associated with PTC risk under an overdominant model of inheritance (adjusted OR = 1.38; 95 % CI, 1.03-1.87; P = 0.03). No haplotype was observed to be significantly associated with PTC risk. Our results suggest that heterozygosity for the ATM rs373759 polymorphism may be a potential risk factor for PTC.

Our previous studies using the mass spectrum analysis provided evidence that fibrinopeptide A (FPA) could be a potential biomarker for schizophrenia diagnosis. We sought further to demonstrate that variants in the fibrinogen alpha chain gene (FGA) coded FPA might confer vulnerability to schizophrenia. 1,145 patients with schizophrenia and 1,016 healthy volunteers from the Han population in Northeast China were recruited. The association of three tag single nucleotide polymorphisms (SNPs) (rs2070011 in the 5′UTR, rs2070016 in intron 4, and rs2070022 in the 3′UTR) in FGA and schizophrenia was examined using a case-control study design. Genotypic distributions of these three SNPs were not found to be significantly different between cases and controls (rs2070011: χ2=1.28, P=0.528; rs2070016: χ2=4.11, P=0.128; rs2070022: χ2=1.23, P=0.541). There were also no significant differences in SNP allelic frequencies between cases and controls (all P>0.05). Additionally, the frequency of haplotypes consisting of alleles of these three SNPs was not significantly different between cases and healthy control subjects (global χ2=9.27, P=0.159). Our study did not show a significant association of FGA SNPs with schizophrenia. Future studies may need to test more FGA SNPs in a larger sample to identify those SNPs with a minor or moderate effect on schizophrenia.

// Rui Liu 1, * , Lifeng Ning 1, 2, * , Xiaoli Liu 3 , Huiping Zhang 4 , Yaqin Yu 1 , Shangchao Zhang 1 , Wenwang Rao 1 , Jieping Shi 1 , Hui Sun 3 , Qiong Yu 1 1 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China 2 National Research Institute for Family Planning, Beijing 100081, China 3 Jilin Provincial Key Laboratory of Surgical Translational Medicine, China-Japan Union Hospital, Jilin University, Changchun 130033, China 4 Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06511, USA * These authors have contributed equally to this work Correspondence to: Qiong Yu, email: yuqiong@jlu.edu.cn Keywords: papillary thyroid carcinoma, nodular goiter, VEGFA, SNPs, Han Chinese Received: September 01, 2016 Accepted: January 06, 2017 Published: February 02, 2017 ABSTRACT The aim of the present study was to investigate whether genetic variants in the vascular endothelial growth factor A gene ( VEGFA ) were risk factors for papillary thyroid carcinoma (PTC) or nodular goiter (NG) in Han Chinese. A total of 2,319 subjects (861 PTC patients, 562 NG patients, and 896 healthy controls) were included. Five tag single nucleotide polymorphisms (tagSNPs: rs3024997, rs3025040, rs833070, rs25648, and rs10434) in VEGFA were genotyped. SNP rs3025040 T allele was associated with a decreased risk of NG ( P

Background: The present study aimed to investigate the prevalence and associated socio-demographic factors of passive smoking among women in Jilin Province, China. Methods: A cross-sectional study was conducted in 2012, using a self-reported questionnaire interview. A representative sample of 9788 non-smoking women aged 18–79 years was collected in Jilin Province of China by a multistage stratified random cluster sampling design. Descriptive data analysis and 95% confidence intervals (CI) of prevalence/frequency were conducted. Multivariable logistic regressions were used to examine the associated socio-demographic factors of passive smoking. Results: The overall prevalence of passive smoking among non-smoking women in Jilin Province was 60.6% (95% CI: 59.3–61.8), 58.3% (95% CI: 56.7–59.9) from urban areas, and 63.4% (95% CI: 61.6–65.3) from rural areas. Twenty-six percent (95% CI: 24.9–27.1) of the non-smoking women reported daily passive smoking, of which 42.9% (95% CI: 41.6–44.1) reported passive smoking at home, and 5.1% (95% CI: 4.5–5.7) reported passive smoking in restaurants. Women in urban areas were less likely to be passive smokers than those in rural ones (OR-Odds Ratio: 0.825, 95% CI: 0.729–0.935), elderly women were less likely to be passive smokers than younger women (55–64 years OR: 0.481, 95% CI: 0.342–0.674, 65–79 years OR: 0.351, 95% CI: 0.241–0.511). Seperated/divorced women were less likely to be passive smokers (OR: 0.701, 95% CI: 0.500–0.982), and widowed women (OR: 0.564, 95%CI: 0.440–0.722), as the married were the reference group. Retired women second-hand smoked due to environmental causes significantly less than manual workers (OR: 0.810, 95% CI: 0.708–0.928). Women with a monthly family income of more than 5000 RMB were less likely to be passive smokers than those with an income less than 500 RMB (OR: 0.615, 95% CI: 0.432–0.876). Conclusions: The prevalence of passive smoking is lower than that reported in 2010 Global Adult Tobacco Survey (GATS) China, but passive smoking is still prevalent and has been an acute public health problem among non-smoking women in Jilin Province, China. Our findings suggest an urgent need for tobacco control and the efforts of public health should be both comprehensive and focus on high-risk populations in Jilin Province, China.

This work reviewed all the reports on the NOTCH4 gene in schizophrenia, which have been published since the gene was found to be associated with illness among a British population in 2000. The results from independent studies were inconsistent. Allelic heterogeneity, clinical diagnosis, ethnical backgrounds, and linkage disequilibrium (LD) structures in the human genome may be major reasons for poor replication. A couple of studies suggested that the NOTCH4 gene could play a role in a subgroup of the disease, such as early-onset schizophrenia and negative symptoms. A single study revealed a weak association of the NOTCH4 gene with frontal lobe brain volumes and a strong association with frontal lobe cognitive performance. A meta-analysis showed stronger evidence of the NOTCH4 association in family-based studies than in case-control studies. In a previous study, we found that rs520692, a single nucleotide polymorphism (SNP) at the NOTCH4 locus, was associated with schizophrenia in a Chinese population. In the present study, we applied a large sample size to re-evaluate our initial findings and then confirmed the rs520692 association with illness. The pairwise measures did not show strong LD between paired SNPs although the SNPs tested are located within a 34-kb region, suggesting that LD within the NOTCH4 gene has been broken rapidly by historical recombination in the Chinese population. Taken together, the NOTCH4 gene may be associated with schizophrenia but how the gene contributes to the etiology of the illness needs a further investigation.

The present study detected 9 single nucleotide polymorphisms (SNPs) at the PLA2G4C and PLA2G6 loci among 240 Chinese parent-offspring trios of Han descent. Of these 9 SNPs, 5 showed highly polymorphic in the Chinese population. They were then applied as genetic markers to test the genetic association of these two calcium-independent cytosolic PLA2 genes with schizophrenia. The transmission disequilibrium test (TDT) showed that rs1549637 at the PLA2G4C locus was the only SNP associated with the illness (chi(2) = 5.63, P = 0.018). The global P-value was 0.082 for 1000 permutations with the TDT analysis. Neither the conditional on allele test nor the conditional on genotype test showed a disease association for the combination of these two genes. Because the PLA2G4C association is so weak, this initial finding should be interpreted with caution.

The present study was undertaken to replicate an association between the PTGS2/PLA2G4A locus and schizophrenia among a Chinese population. We recruited 168 Chinese parent-offspring trios of Han descent, consisting of fathers, mothers and affected offspring with schizophrenia. Of 3 informative SNPs genotyped, no one showed allelic association with schizophrenia; the haplotype analysis also failed to capture a haplotypic association with the illness. Because the frequencies of alleles and genotypes of SNPs analyzed differ in the Chinese population as compared with a British population that initially showed the genetic association between the PTGS2/PLA2G4A locus and schizophrenia, the ethnic background may be a major reason for poor replication of the initial finding.

This study investigates the genetic association between catechol-O-methyltransferase (COMT) gene polymorphisms and neurotic disorders. Data were derived from a case-control association study of 255 undergraduates affected by neurotic disorders and 269 matched healthy undergraduate controls. The polymorphisms of eight tag single nucleotide polymorphisms (SNPs) on the COMT gene were tested using polymerase chain reaction (PCR)-based Ligase Detection Reaction (PCR-LDR). The eight tag SNPs on the COMT gene assessed were not associated with neurotic disorders. Our finding suggests that the COMT gene may not be a susceptibility gene for neurotic disorders.

BACKGROUND Zinc finger protein 259 (ZNF259) binds to the cytoplasmic domain of epidermal growth factor receptor (EGFR) in quiescent cells and contributes tolipid metabolism. This case and control study investigated the association between ZNF259 single nucleotide polymorphisms (SNPs) and metabolic syndrome (MetS). METHODS This study included 1,812 MetS patients and 2,036 controls from the Jilin province of Northeastern China. MetS was diagnosed using the International Diabetes Federation (IDF) criteria. Three ZNF259 SNPs (rs964184, rs2075290 and rs2075294) were genotyped using matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF-MS). RESULTS There were significant differences between metabolic syndrome and healthy control subjects for the ZNF259 rs964184 and rs2075290 genotypes. The minor alleles of both SNPs were associated with an increased risk of MetS and associated conditions (elevated triglycerides, elevated blood pressure, increased abdominal obesity, fasting hyperglycemia, and low HDL-C; p < 0.05). The distribution of haplotype G-G-G (rs964184, rs2075290 and rs2075294) was significantly different between MetS patients and controls (OR = 1.39; 95% CI, 1.24 - 1.56; p < 0.01). CONCLUSIONS This study demonstrated that ZNF259 variants were associated with elevated MetS risk in a Han Chinese population from the Jilin province of Northeastern China.

This cross-sectional survey among Chinese university students aimed to estimate the prevalence and risk factors of major depressive disorder (MDD) among undergraduates, in order to provide basic information for the prevention and treatment of depression among the college-aged population.A total of 2,046 undergraduates were interviewed face to face using the World Health Organization Composite International Diagnostic Interview Version 3.0 (WHO-CIDI, version 3.0). Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) criteria were used to diagnose MDD. Logistic regression was used to evaluate the associations between MDD and selected correlates.The survey response rate was 90.1% (N = 1,843). The prevalence rates of MDD were 3.9% (lifetime), 2.4% (12 months) and 0.4% (30 days). No significant gender or age differences were found in prevalence rates. No sociodemographic characteristics were related to the lifetime prevalence of MDD. In contrast, family structure and environment factors specifically being from a single-parent family (odds ratio [OR] = 2.513, confidence interval [CI] = 1.404-2.500), parents having mental problems (OR = 1.809, CI = 1.104-2.964), and physical punishment (OR = 1.789, CI = 1.077-3.001) were associated with higher lifetime prevalence of MDD.These findings showed a relatively lower prevalence of DSM-IV/CIDI MDD in this sample of Chinese undergraduates than that reported for students in other countries. However, the prevalence rate for university students was higher than that reported for general Chinese population. Family structure and socio-environmental factors in the student's family of origin significantly correlated with the lifetime prevalence of MDD.

This study investigates the genetic association between methyl-CpG-binding domain (MBD) gene polymorphisms and schizophrenia. A total of 200 family trios consisting of fathers, mothers, and affected offspring with schizophrenia were recruited as our participants. Four tag SNPs on MBD1 (rs125555, rs140689, rs140687, and rs140686), three tag SNPs on MBD2 (rs3876254, rs7614, and rs1145317), and three tag SNPs on MBD3 (rs7252741, rs4807934, and rs4807122) genes were tested using the PCR-based ligase detection reaction (PCR-LDR). The transmission disequilibrium test showed that rs1145317 on the MBD2 gene was significantly overtransmitted from parents to schizophrenic offspring (P=0.026). The haplotype-based haplotype relative risk test revealed that the haplotype rs7614-rs1145317 (A-G) was associated with schizophrenia (P=0.029). Our finding suggests that the MBD2 gene may be a susceptibility gene for schizophrenia.

The present study detected three single nucleotide polymorphisms (SNPs), BanISNP at the PLA2G4A locus, rs1648833 at the PLA2G4B locus, and rs1549637 at the PLA2G4C locus, to investigate a genetic association between the cytosolic PLA2 (cPLA2) genes and schizophrenia. A total of 240 Chinese parent–offspring trios of Han descent were recruited for the genetic analysis. The transmission disequilibrium test (TDT) showed allelic association for rs1549637 (χ2 = 5.68, uncorrected P = 0.017), but not for BanISNP and rs1648833. The conditioning on genotype (COG) test revealed a disease association for the BanISNP–rs1648833 combination (χ2 = 12.54, df = 3, P = 0.0057) and for the BanISNP–rs1549637 combination (χ2 = 9.72, df = 2, P = 0.021), but the conditioning on allele (COA) test did not show such an association for the above two combinations. Neither the COA test nor the COG showed a disease association for the rs1648833–rs1549637 combination. In the combination of all three SNPs, the COG test, but not the COA test, showed a strong association (χ2 = 22.93, df = 6, P = 0.0008). These findings suggest that these three cPLA2 genes may all be involved in contributing to the etiology of schizophrenia although their effect size appears to be relatively small. © 2005 Wiley-Liss, Inc.

Diagnosis of schizophrenia does not have a clear objective test at present, so we aimed to identify the potential biomarkers for the diagnosis of schizophrenia by comparison of serum protein profiling between first-episode schizophrenia patients and healthy controls. The combination of a magnetic bead separation system with matrix-assisted laser desorption/ionization time-of-flight tandem mass spectrometry (MALDI-TOF/TOF-MS) was used to analyze the serum protein spectra of 286 first-episode patients with schizophrenia, 41 chronic disease patients and 304 healthy controls. FlexAnlysis 3.0 and ClinProTools(TM) 2.1 software was used to establish a diagnostic model for schizophrenia. The results demonstrated that 10 fragmented peptides demonstrated an optimal discriminatory performance. Among these fragmented peptides, the peptide with m/z 1206.58 was identified as a fragment of fibrinopeptide A. Receiver operating characteristic analysis for m/z 1206.58 showed that the area under the curve was 0.981 for schizophrenia vs healthy controls, and 0.999 for schizophrenia vs other chronic disease controls. From our result, we consider that the analysis of serum protein spectrum using the magnetic bead separation system and MALDI-TOF/TOF-MS is an objective diagnostic tool. We conclude that fibrinopeptide A has the potential to be a biomarker for diagnosis of schizophrenia. This protein may also help to elucidate schizophrenia disease pathogenesis.

Papillary thyroid carcinoma (PTC) is one of the most common tumors of the thyroid gland. The common risk factors of PTC include ionizing radiation, positive family history, and thyroid nodular disease. PTC was identified in Europeans by conducting a genome-wide association study, and a strong association signal with PTC was observed in rs944289 and NKX2-1 (located at the 14q13.3 locus), which was probably the genetic risk factor of PTC. This study aimed to examine the association of this gene with PTC in Chinese. A total of 354 patients with PTC and 360 healthy control subjects from the Han population of Northern China were recruited in the study. These individuals were genotyped to determine rs12589672, rs12894724, rs2076751, and rs944289. The association of rs944289 with PTC was obtained (C vs. T, P = 0.027, OR = 1.264, 95% CI = 1.026 - 1.557; and C/C - C/T vs. T/T, P = 0.034, OR = 1.474, 95% CI = 1.028 - 2.112). Conducting a subgroup analysis, we found a marginal difference in the allele frequency distribution of rs944289 (adjusted P = 0.062) between the patients with PTC and multi-nodular goiter and the control subjects. We also observed an interaction (P = 0.029; OR = 2.578, 95% CI = 1.104 - 6.023) between rs944289 and diabetes in patients with PTC. In conclusion, rs944289 was associated with an increased risk of PTC in the Han population of Northern China, but no clear association was observed in either of the tag single nucleotide polymorphisms of NKX2-1.

Objective The purpose of this study was to explore the association between single nucleotide polymorphisms (SNPs) in the phospholipase A2 (PLA2), group XIIA gene (PLA2G12A) and schizophrenia. Methods This study included 1,063 schizophrenia patients and 1,103 healthy controls from a Han Chinese Population in Northeast China. Four tagSNPs (rs11728699 in intron 1, synonymous rs2285714 in exon 3, rs3087494 in the 3’ UTR, and rs7694620 in the downstream region) in PLA2G12A were selected, and they were genotyped by the MALDI-TOF-MS technology. The Chi-square (χ2) test and haplotype analysis were performed to analyze the association of PLA2G12A SNPs and schizophrenia using the software packages SPSS 16.0 and Haploview 4.2. Results Among the four tagSNPs, only SNP rs3087494 in the 3’ UTR of PLA2G12A showed significant differences in both allele frequencies (χ2 = 20.136, P

To explore the association between histone deacetylase-2 (HDAC2) and histone deacetylase-3 (HDAC3) gene polymorphisms and schizophrenia.A total of 208 family trios consisting of fathers, mothers and affected offspring with schizophrenia were recruited as our subjects. Four tag SNPs on HDAC2 (rs10499080, rs6568819, rs2499618 and rs13204445) and two tag SNPs on HDAC3 (rs11741808, rs2530223) genes were selected. The Mass ARRAY Assay Design software (Sequenom) was used to design amplification and allele specific extension primers. The Hardy-Weinberg equilibrium (HWE) for genotypic distributions was tested using the chi-square goodness-of-fit test. Allelic association for a single tag SNP was analyzed by using family-based association tests including the haplotype-based haplotype relative risk (HHRR) test and the transmission disequilibrium test (TDT).The genotypic distributions of HDAC2 SNPs rs6568819, rs2499618 and rs13204445 and HDAC3 SNPs rs11741808 and rs2530223 were all in Hardy-Weinberg equilibrium (P0.05). HHRR analysis revealed no associations between the SNPs and schizophrenia (P0.05). In addition, the TDT did not show any significant associations between HDAC2 and HDAC3 SNPs and schizophrenia (P0.05).HDAC2 and HDAC3 might not be associated with schizophrenia in the Chinese population.

To investigate the association between the polymorphisms of fatty acid desaturase 1 ( FADS1 ), fatty acid desaturase 2 ( FADS2 ) and elongation of very long chain fatty acids like 2 ( ELOVL2 ) gene and coronary artery disease (CAD) in a Chinese Han population. Three single nucleotide polymorphisms (SNPs) from these genes were genotyped using PCR-based restriction fragment length polymorphism analysis in 199 CAD cases and 192 controls of Han Chinese origin. rs174556 in the FADS1 gene showed allelic ( P= 0.002) and genotypic ( P= 0.030) association with the disease, while there was no disease association for the other two SNPs. The frequency of rs174556 minor allele (T) was significantly higher in the case group than the control group. The trans phase gene–gene interaction analysis showed that the combined genotype of rs174556 (T/T) and rs3756963 (T/T) was weakly associated with the disease ( P= 0.043). rs174556 in the FADS1 gene is very likely to be associated with CAD in the Chinese Han population.

To investigate an association between gene polymorphisms of FADS 1 (fatty acid desaturase 1) , FADS2 (fatty acid desaturase 2) and ELOVL2 (elongation of very long chain fatty acids (FEN1/ Elo2, SUR4/Elo3, yeast) -like 2) and paranoid schizophrenia of the Han ethnicity in Jilin province of China.We genotyped 3 single nucleotide polymorphisms from 3 candidate genes in 100 paranoid schizophrenia cases and 95 healthy controls using polymerase chain reaction-restriction fragment length polymorphism method. All samples are from Han ethnicity in Jilin province of China.The genotype distributions of rs174556 in FADS1 gene and rs174617 in FADS2 gene showed no significant difference between case and control groups (P0.05). The genotype distribution of rs3756963 in ELOVL2 gene showed significant difference between case group and control group (P0.05). The distribution proportion of allele T carriers in case group was higher than that in control group. Trans-phase gene interaction analysis showed that the distribution proportion of combined genotypes included rs3756963 (T/T) was higher in case group than that in control group (P0.05).rs174556 in FADS1 gene and rs174617 in FADS2 gene may not be associated with paranoid schizophrenia. rs3756963 in ELOVL2 gene may be associated with paranoid schizophrenia.

To study the prevalence and risk factors of neurotic disorders (NDs) among Chinese university students. Stratified random sampling was used to select students who were interviewed using the World Health Organization Composite International Diagnostic Interview Version 3.0 to diagnose psychiatric disorder and collected socio-demographic, and family structure and environment data. The response rate was 90 % (N = 1,843). The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) criteria were used to diagnose NDs. We used logistical regression to evaluate the links between NDs and selected correlates. The prevalence of NDs was 25.6 % (lifetime), 15.7 % (12-month), and 6.8 % (30-day) among the university students with no significant gender differences in these rates. No family structure characteristics were related to 12-month prevalence of NDs (P > 0.05). In contrast, family environment factors including a history of family disputes (OR 1.562, CI 1.108–2.203), parental mental health problems (OR 1.800, CI 1.379–2.349), and absence of care in childhood (OR 1.916, 95 % CI 1.331–2.759) were associated with higher prevalence rates of NDs. Our findings show a high prevalence of NDs in this sample of Chinese undergraduates. Social environment factors, in the student’s family of orientation, were significantly associated with the prevalence of NDs. These findings support the importance of negative family experiences during childhood and adolescence and increasing vulnerability to NDs.

Background Analyses of large scale psychiatric epidemiology surveys suggest that common mental disorders can be generalized into two underlying dimensions, internalizing disorders (e.g. depression, and anxiety) and externalizing disorders (e.g. addictions). The present study explores the interactions among the genes (SLC6A4, BDNF, and MAOA) and selected environment factors (G × E), and gene × gene (G × G) interactions for internalizing disorders in the sample of Chinese university students. Methods This is a genetic case control study. 259 undergraduates affected with internalizing disorders and 269 healthy controls were included. Multiple logistic regression was used to explore the potential environmental risk factors. G × E interactions were analyzed using the method developed by Mukherjee et al. (2008). Analyses of G × G interactions were conducted by generalized multifactor dimensionality reduction (GMDR) (Lou et al., 2007). We have previously reported on the polymorphism information for ten single nucleotide polymorphisms (SNPs) on SLC6A4, BDNF, and MAOA genes (Meng et al., 2009; Meng, 2010). Results We found that an offspring's reported parents' negative mood, subject's unwillingness to express emotion, being an only child, having an unfulfilling relationship with his/her mother, and increased activity and behavior restrictions by his/her father were social environment risk factors for internalizing disorders. No statistically significant interactions were found in the G × E analyses. G × G analyses found that subjects with mutational alleles concurrently on rs10835210 and rs2030324 (BDNF gene) were significantly likely to develop internalizing disorders. Those with one mutated allele on either SNPs were 1.761 times, and those with both mutated alleles were 3.353 times, more likely to develop internalizing disorders. Conclusion A negative family emotional environment was found to be associated with internalizing disorders. BDNF gene variants were also found to be similarly associated. Using conservative statistical analyses we did not find any G × E interactions.

The present work was undertaken to investigate the association of the UFD1L locus with schizophrenia among 304 Chinese family trios of Han descent. We detected four single nucleotide polymorphisms (SNPs) in the 5′-end region of the UFD1L gene. The transmission disequilibrium test (TDT) revealed allelic associations for rs5746744 (χ2 = 8.02, P = 0.005) and rs1547931 (χ2 = 7.18, P = 0.007), but failed to replicate disease association for rs5992403 present in the promoter region, which was initially found in Italian and Canadian samples. The allelic association for rs5746744 and rs1547931 was replicated with independently recruited case–control samples. The 2-SNP haplotype analysis showed an association for the rs5992403-rs5746744 haplotypes (χ2 = 18.92, df = 3, P = 0.0003), the rs5746744-rs1547931 haplotypes (χ2 = 11.06, df = 3, P = 0.011) and the rs1547931-rs2238769 haplotypes (χ2 = 18.88, df = 3, P = 0.0003). The 4-SNP haplotype analysis also showed strong association with illness (χ2 = 29.54, df = 9, P = 0.0005) but there were more than one individual haplotypes with a low frequency excessively non-transmitted. The four SNPs tested were not located in the same LD block among the Chinese population. This study raises the possibility that a disease-resistant variant may be carried by two or more haplotypes at the UFD1L locus due to frequent recombination during meiosis. © 2008 Wiley-Liss, Inc.

Objective The present study investigated the prevalence and risk factors for Metabolic syndrome. We evaluated the association between single nucleotide polymorphisms (SNPs) in the apolipoprotein APOA1/C3/A4/A5 gene cluster and the MetS risk and analyzed the interactions of environmental factors and APOA1/C3/A4/A5 gene cluster polymorphisms with MetS. Methods A study on the prevalence and risk factors for MetS was conducted using data from a large cross-sectional survey representative of the population of Jilin Province situated in northeastern China. A total of 16,831 participations were randomly chosen by multistage stratified cluster sampling of residents aged from 18 to 79 years in all nine administrative areas of the province. Environmental factors associated with MetS were examined using univariate and multivariate logistic regression analyses based on the weighted sample data. A sub-sample of 1813 survey subjects who met the criteria for MetS patients and 2037 controls from this case-control study were used to evaluate the association between SNPs and MetS risk. Genomic DNA was extracted from peripheral blood lymphocytes, and SNP genotyping was determined by MALDI-TOF-MS. The associations between SNPs and MetS were examined using a case-control study design. The interactions of environmental factors and APOA1/C3/A4/A5 gene cluster polymorphisms with MetS were assessed using multivariate logistic regression analysis. Results The overall adjusted prevalence of MetS was 32.86% in Jilin province. The prevalence of MetS in men was 36.64%, which was significantly higher than the prevalence in women (29.66%). MetS was more common in urban areas (33.86%) than in rural areas (31.80%). The prevalence of MetS significantly increased with age (OR = 8.621, 95%CI = 6.594–11.272). Mental labor (OR = 1.098, 95%CI = 1.008–1.195), current smoking (OR = 1.259, 95%CI = 1.108–1.429), excess salt intake (OR = 1.252, 95%CI = 1.149–1.363), and a fruit and dairy intake less than 2 servings a week were positively associated with MetS (P

The phospholipid hypothesis of schizophrenia is becoming popular because of the findings from the niacin flush test, the treatment with polyunsaturated fatty acids (PUFAs), biochemical studies for the phospholipid metabolism pathway and genetic studies of phospholipase A2. The present study attempted to investigate the gene coding for phosphatidylethanolamine N -methyltransferase (PEMT), which is an important enzyme for the synthesis of membrane phospholipids. We recruited 271 Chinese parent-offspring trios of Han descent and detected 3 single nucleotide polymorphisms (SNPs) at the PEMT locus. The transmission disequilibrium test (TDT) showed allelic association for rs464396 ( X 2 = 9.4, P = 0.002), but not for the other two. The 2-SNP haplotype analysis showed haplotypic association for both the rs936108-rs464396 haplotypes ( X 2 = 25.7, d.f. = 3, P = 0.00001) and the rs464396-rs4244593 haplotypes ( X 2 = 17.3, d.f. = 3, P = 0.0006). The 3-SNP haplotype analysis also showed a haplotypic association ( X 2 = 24.4, d.f. = 7, P = 0.0006). The present results suggest that the PEMT gene may contribute to the etiology of schizophrenia.

The present study detected two single nucleotide polymorphisms (SNPs) at the PLA2G4D locus, rs2459692 and rs4924618, to investigate a genetic association between the PLA2G4D gene and schizophrenia. A total of 236 Chinese parent–offspring trios of Han descent were recruited for the genetic analysis. The transmission disequilibrium test (TDT) did not show allelic association either for rs2459692 ( χ 2 = 0.217 , P = 0.641 ) or for rs4924618 ( χ 2 = 0.663 , P = 0.416 ). To see the combined effect of the PLA2G4D locus with the other three PLA2G4 genes, we applied the above two SNPs as a conditional marker to test the pair-wise combination for a disease association. The conditioning on allele (COA) test revealed a weak association for the rs2459692–PLA2G4A combination ( χ 2 = 6.03 , df=2, P = 0.049 ), the rs2459692–PLA2G4B combination ( χ 2 = 7.16 , df=3, P = 0.028 ) and the rs4924618–PLA2G4C combination ( χ 2 = 7.01 , df=2, P = 0.03 ), whereas the conditioning on genotype (COG) test showed a weak association only for the rs4924618–PLA2G4C combination ( χ 2 = 8.52 , df=3, P = 0.036 ). Because we performed a multi-locus analysis in this study, the weak association shown by the conditional tests could make little biological sense. In conclusion, the PLA2G4D gene may not be involved in a susceptibility to schizophrenia.

The NOTCH4 locus was reported to be associated with schizophrenia in our previous study but the subsequent replication by other workers has been inconsistent. To find out possible reasons for the poor replication, the present work was undertaken to analyse four functional single nucleotide polymorphisms (SNPs) (rs367398, rs915894, rs520692 and rs422951) at the NOTCH4 locus among 141 schizophrenic family trios of Chinese Han descent. Of these four SNPs, rs520692 was the only one associated with schizophrenia (P = 0.017); the other three, however, did not show any association with the illness, including rs367398 located in the promoter region, which had shown a strong association with the illness in our previous study conducted with British samples. Although these four SNPs analysed lie within a less than 4 kb segment of genomic DNA, the pattern of linkage disequilibrium between them was unexpected. The strongest linkage disequilibrium was shown only between rs367398 and rs520692 and between rs520692 and rs422951 in both parent and patient groups. This study raises the possibility that there might be two or more disease-underlying variants at the NOTCH4 locus or at a nearby locus, and that the allelic or locus heterogeneity may be one of the possible reasons for the poor replication of the NOTCH4 finding.

The present study was designed to detect three single nucleotide polymorphisms (SNPs) located on 22q11 that was thought as being of particularly importance for genetic research into schizophrenia. We recruited a total of 176 Chinese family trios of Han descent, consisting of mothers, fathers and affected offspring with schizophrenia for the genetic analysis. The transmission disequilibrium test (TDT) showed that of three SNPs, rs10314 in the 3′-untranslated region of the CLDN5 locus was associated with schizophrenia (χ2= 4.75,P= 0.029). The other two SNPs, rs1548359 present in the CDC45L locus centromeric of rs10314 and rs739371 in the 5′-flanking region of the CLDN5 locus, did not show such an association. The global chi-square (χ2) test showed that the 3-SNP haplotype system was not associated with schizophrenia although the 1-df test for individual haplotypes showed that the rs1548359(C)-rs10314(G)-rs739371(C) haplotype was excessively non-transmitted (χ2= 5.32,P= 0.02). Because the claudin proteins are a major component for barrier-forming tight junctions that could play a crucial role in response to changing natural, physiological and pathological conditions, the CLDN5 association with schizophrenia may be an important clue leading to look into a meeting point of genetic and environmental factors.