Association In Chinese Population Research Articles

Lower Visceral Fat Area in Patients with Type 2 Diabetic Peripheral Neuropathy.

There is preliminary evidence that visceral fat area (VFA) was associated with the presence of type 2 diabetic peripheral neuropathy (DPN) in the Korean population; however, no studies have reported the association in Chinese population. The purpose of this study was to explore the possible correlation of VFA with DPN in such a population. A total of 2498 hospitalized patients with type 2 diabetes mellitus (T2DM) undergone VFA measurement, and were divided into DPN group (n=900) and non-DPN group (n=1594). The association of VFA with the presence of DPN was evaluated by correlation and multiple logistic regression analyses, generalized additive model with a smooth curve fitting, and receiver operating characteristic (ROC) curve analysis. The VFA was significantly lower in the DPN group than in the non-DPN group (P < 0.001). VFA was significantly and positively associated with sural nerve conduction velocity (SNCV) and amplitude potential (SNAP) and negatively associated with the presence of DPN (all P< 0.001); there was no significant difference in the curve fitting (P = 0.344). Multivariate logistic regression analysis showed that the risk of presence of DPN decreased progressively across the VFA quartiles (P for trend < 0.001) and was significantly lower in patients in the highest VFA quartile than in those in the lowest quartile (OR: 0.382, 95% CI 0.151-0.968, P< 0.001) after multivariate adjustment. The ROC analysis revealed that the best cut-off value of VFA for predicting the presence of DPN was 50.5cm2 (sensitivity 84.40%; specificity 34.00%). These results suggest that lower VFA level may be associated with increased risk of the presence of DPN in T2DM patients.

Are Physical Activities Associated With Perceived Stress? The Evidence From the China Health and Nutrition Survey.

Psychological stress is a negative affective state. The association between physical activity and psychological stress was commonly reported in previous researches. Few published studies with large sample sizes have explored such an association in Chinese population. The current research aims to assess the association between perceived stress and physical activity preferences, as well as the association between risk of high perceived stress and physical activity behaviors (e.g., sports-, transport-, occupational-related physical activity, sedentary activities and time in bed). The data were collected from the China Health and Nutrition Survey (CHNS) in 2015. Generalized linear models and logistic regression models were used to explore the association between perceived stress and physical activity. In total, 11,066 participants were included in the current analysis. For physical activity preferences, we found that “like” preference of all six mentioned domains of activities contributed to lower perceived stress (i.e., lower perceived stress scale −14 score, all β < 0 and p < 0.05). For physical activity behaviors, the results indicated that none/low intensity physical activity behaviors (e.g., sports-, occupational- related, sedentary) were associated with risk of high perceived stress, except that low intensity of transport-related activities seemed to be protective from high stress. However, the association between intensity of physical activity behaviors and perceived stress was not simply the higher the better. High intensity of all these physical activity behaviors was also associated with high perceived stress. Our findings suggest that positive preferences and moderate physical activity behaviors were associated with low perceived stress. The findings herein highlight the effect of regulating physical activity on perceived stress, as well as inform potential strategies to reduce psychological stress.

Alpha synuclein (SNCA) rs7684318 variant contributes to Parkinson’s disease risk by altering transcription factor binding related with Notch and Wnt signaling

In view of inconsistencies in the association studies of alpha synuclein (SNCA) rs7684318 (chr4: 90655003 T > C) with Parkinson’s disease (PD), we conducted a meta-analysis to establish the association of this variant with PD and examined changes in transcription factor binding. SNCA rs7684318 C-allele was identified as genetic risk factor for PD in fixed (OR: 1.53, 95 % CI: 1.40–1.68, p < 0.0001) and random effect (OR: 1.65, 95 % CI: 1.30–2.09, p = 0.0003) models. Heterogeneity was observed in association (Tau2: 0.0576, H: 2.32, I2: 0.815, Q: 21.64, p = 0.0002). Egger’s test showed no evidence of publication bias (p = 0.37). Subgroup analysis showed that rs7684318 is contributing to PD risk in Japanese (OR: 1.46, 95 % CI: 1.30–1.64) and Indian (OR: 2.63, 95 % CI: 1.79–3.86) populations while showing no significant association in Chinese population (OR: 1.68, 95 % CI: 0.93–3.02). Sensitivity analysis showed that exclusion of any one of the studies has no significant impact on the association, which justifies the robustness of the analysis. Tissue-specific DNase foot print analysis revealed that this variant contributes to increased transcription factor binding in midbrain, putamen and caudate nucleus. The substitution of T > C increased binding of RBPJ and GATA-family transcription factors; and decreased binding of NKX2 family, SNAI2, SNAI3, DMRT1, HOXA13, HOXB13, HOXC13, HOXD13, WT1, POU4F1, POU4F2, POU4F3 transcriptional factors. TRANSFAC and DNA curvature analyses substantiate the association of this variant with increased binding of GATA1 that contribute to intensity of DNA curvature peaks and splitting pattern. These studies along with the meta-analysis strongly suggest that the rs7684318 variant contributes to the pathophysiology of PD by modulating binding of transcription factors related to Notch and Wnt signalling pathways that are likely to impair dopmanergic transmission.

436 Deep analysis of autoimmune blistering disease subtype and HLA associations in Chinese population

Autoimmune blistering diseases (AIBDs) are a group of rare acquired blistering skin diseases, which are divided into five major subtypes based on the clinical appearance and pathology: pemphigus diseases, bullous pemphigoid (BP), epidermolysis bullosa acquisita (EBA), dermatitis herpetiformis (DH) and Linear IgA bullous dermatosis (LigA). Current understanding has been greatly increased by genetic investigations mainly focus on the HLA in various populations. We have conducted the HLA association studies on different subtypes of AIBDs in Chinese population by using Next-generation (NGS) based HLA typing methods.

The AGT Haplotype of the ESR2 Gene Containing the Polymorphisms rs2077647A, rs4986938G, and rs1256049T Increases the Susceptibility of Unexplained Recurrent Spontaneous Abortion in Women in the Chinese Hui Population.

BackgroundEstrogen has an important role in unexplained recurrent spontaneous abortion (URSA). Polymorphisms of the ESR1 gene and the ESR2 gene have been identified as risk factors for URSA, but with varied associations in Chinese populations. This study aimed to compare the role of gene polymorphisms of ESR1 and ESR2 and the risk of URSA in the Chinese Hui and Chinese Han populations.Material/MethodsChinese Hui women (n=171) and Chinese Han women (n=234) with URSA were compared with healthy controls (n=417) matched by ethnicity and age. Genotyping was performed using direct sequencing and identified three polymorphisms of the ESR1 gene (rs9340799, rs2234693, and rs3798759) and three polymorphisms of the ESR2 gene (rs207764, rs4986938, and rs1256049). The association between ESR1 and ESR2 gene polymorphisms and the risk of URSA was evaluated statistically using the odds ratio (OR) and 95% confidence interval (CI).ResultsNo association was detected between the allelic, dominant, and recessive models of ESR1 and ESR2 gene polymorphisms and the risk of URSA in Chinese Han and Hui populations (p>0.05). The distribution of the AGT haplotype containing ESR2 gene polymorphisms rs2077647A, rs4986938G, and rs1256049T was significantly reduced in patients with URSA compared with controls in the Chinese Hui population (OR, 0.29; 95% CI, 0.14–0.62; p=0.0009; padj=0.005).ConclusionsThe AGT haplotype of the ESR2 gene containing the polymorphism rs2077647A, rs4986938G, and rs1256049T (ESR2 hapAGT) was a protective factor for URSA in women in the Chinese Hui population when compared with the Chinese Han population.

Circulating folate concentrations and risk of coronary artery disease: a prospective cohort study in Chinese adults and a Mendelian randomization analysis

The association between circulating folate concentrations and risk of coronary artery disease (CAD) has been evaluated in Western populations with inconsistent results; however, the observational and causal associations in Chinese populations with relatively low folate concentrations remain unclear. We aimed to examine the association of circulating folate concentrations with incident CAD in Chinese adults, and further evaluated the causal relation using Mendelian randomization (MR) analysis. We measured baseline serum folate in 1605 incident CAD cases and 1605 age- and sex-matched controls nested within the Dongfeng-Tongji (DFTJ) cohort, which recruited 27,009 individuals with a mean age of 63.6 y in 2008-2010 and followed up until the end of 2013 (mean: 4.4 y). We quantified the observational association between folate and incident CAD using conditional logistic regression models. A 2-sample MR analysis was performed using summary statistics obtained for genetic variants identified from a genome-wide association study (GWAS) of circulating folate concentrations in participants of European ancestry (n=37,341) and from the CardiogramplusC4D 1000 genomes-based GWAS meta-analysis (n=184,305). We also conducted 1-sample MR among 1545 incident CAD cases and 1444 controls with genotyping data in the DFTJ cohort. In the DFTJ cohort, higher serum folate concentrations were associated with a lower risk of CAD: the OR (95% CI) across sex-specific quartiles of folate (from lowest to highest concentrations) was 1.00 (reference), 0.78 (0.63, 0.97), 0.77 (0.61, 0.97), and 0.75 (0.60, 0.95), respectively (P-trend=0.01). In the MR analysis, the OR of CAD per SD increase in genetically predicted serum folate was 0.99 (0.82, 1.20) and 0.88 (0.59, 1.32) for European and Chinese populations, respectively. We found an inverse association between circulating folate concentrations and incident CAD among Chinese populations. However, we confirmed that there was no genetic evidence to support the causal relation in both European and Chinese populations.

Exposure to organochlorine pesticides and the risk of type 2 diabetes in the population of East China

Organochlorine pesticides (OCPs) have been reported to be associated with an elevated risk of type 2 diabetes, although no study has focused on such associations in Chinese populations. In this case-control study, we aimed to explore the associations between OCPs and type 2 diabetes and their potential mechanisms in a population from East China. Participants diagnosed with type 2 diabetes and nondiabetic participants from Shandong Province, East China, were enrolled in this case-control study. Six OCPs (β-HCH, trans-chlordane, trans-nonachlor, p,p'-DDE, p,p'-DDT and mirex/kepone) were detected in more than 75% of serum samples. Logistic regression analysis and multiple linear regression analysis were used to assess the associations between OCP exposure and the outcomes. After adjusting for potential confounding factors such as age, sex and body mass index, all six OCPs showed positive associations with type 2 diabetes in a linear dose-response manner. Serum concentrations of β-HCH and p,p'-DDE were associated with higher levels of fasting plasma glucose in participants without diabetes, although no OCPs showed significant associations with hemoglobin A1c. In addition, certain OCPs showed significantly positive associations with triglycerides, total cholesterol, and low-density lipoprotein cholesterol and negative relationships with high-density lipoprotein cholesterol in nondiabetics, indicating that OCP exposure may disrupt lipid metabolism. Findings in the current study indicated that OCPs may be a diabetogenic factor in the population of this study. To our knowledge, this is the first study to investigate the associations between OCP exposure and type 2 diabetes in a Chinese population.

Association between an indel polymorphism within the distal promoter of EGLN2 and cancer risk: An updated meta-analysis.

BackgroundThe association between a 4‐bp indel polymorphism (rs10680577) within the distal promoter of EGLN2 and cancer risk has been investigated by several case–control studies in recent years, but investigation results were inconsistent. Thus, a systematic assessment of the association was performed based on a literature review and pooled analysis.MethodsTwo investigators independently retrieved relevant studies from PubMed, Chinese National Knowledge Infrastructure (CNKI), Embase, and Google Scholar. The fixed or random effects model was selected to calculate odds ratios (ORs) with 95% confidence intervals (CIs) based on heterogeneity level. All analyses including heterogeneity assessment, subgroup analysis, sensitivity analysis, and publication bias assessment were performed using RevMan 5.3 software and Stata 12.0 software.ResultsA total of six relevant studies with 3,406 cases and 5,147 controls were included in the final analysis. The overall pooled analysis showed that EGLN2 rs10680577 polymorphism was significantly associated with cancer risk under all genetic models. However, subgroup analysis based on cancer type showed that the polymorphism was significantly associated with the risk of digestive system cancer under all genetic models, and with the risk of lung cancer under dominant model, heterozygote comparison model, and allele comparison model. Subgroup analysis based on population sources showed a significant association in Chinese population under all genetic models.ConclusionThe present result suggests that EGLN2 rs10680577 polymorphism is associated with cancer risk, and may act as a promising predictive biomarker for cancer risk, especially in Chinese population. However, further well‐designed studies are warranted to confirm these results.

Anti-centrosome antibodies: Prevalence and disease association in Chinese population.

Anti-centrosome antibodies are rare findings with undefined clinical significance in clinical research. We aimed at investigating the prevalence and clinical significance of anti-centrosome antibodies in Chinese population. Testing results of total of 281,230 ANA-positive sera were retrospectively obtained from West China Hospital Sichuan University in China between 2008 and 2017. We retrospectively collected and analysed the clinical and laboratory data of the patients with positive anti-centrosome antibody. Of the 356453 patients tested, 281230 patients had positive antinuclear antibodies (ANAs, 78.9%), but only 78 patients with positive anti-centrosome antibodies (0.022%), of which 74.4% are females. Diagnoses were established in 69 of 78 patients: 37 cases were autoimmune diseases, mainly including undifferentiated connective tissue diseases (UCTD, 9/37), rheumatoid arthritis (RA, 6/37), Sjögren's syndrome (SS, 5/37) and primary biliary cirrhosis (PBC, 5/37), and the remaining were other autoimmune conditions. The most frequent clinical symptoms of the anti-centrosome-positive patients were arthralgia and eyes and mouth drying. Additionally, 86.7% of anti-centrosome antibodies were not associated with other ANAprofiles; however, when associated, the most frequent ANA was anti-U1RNP. Anti-centrosome antibodies are featured by a low prevalence and female gender predominance. They are correlated with some specific diseases, both autoimmune diseases, especially UCTD, RA, SS and PBC, and non-autoimmune diseases, such as infection and cancer, which suggests that they might be potential supporting serological markers of these diseases.

Anti-golgi antibodies: Prevalence and disease association in Chinese population

ObjectiveAnti-golgi antibodies (AGAs) are rarely encountered and often considered in relation to autoimmune diseases in clinical practice. This research was performed for studying the prevalence and clinical significance of AGAs in Chinese population. MethodsWe retrospectively reviewed 22,619 laboratory reports of AGAs detected by indirect immunofluorescence (IIF) were consecutively collected from the First People's Hospital of Wenling between June 2012 and June 2017. Eight patients with AGAs were followed up for relevant clinical and laboratory characteristics. ResultA total of 22,619 laboratory reports were collected. Of 19 patients with AGAs, 7 cases (all females) had autoimmune diseases (AID) and 12 cases (6 females and 6 males) had non-AID. High titer AGAs ranging from 1:1000 to 1:3200 were persistently present in AID patients, while low-titer AGAs ranging from 1:100 to 1:320 were transient in non-AID patients. ConclusionThis is the first study to assess the AGA positive rate and relevant clinical manifestations in a hospitalized Chinese population. AGAs were rare and occurred in a variety of diseases. They were persistently strongly positive in AID, whereas low-titered and transient in non-AID.

Genetic Polymorphisms of CCDC26 rs891835, rs6470745, and rs55705857 in Glioma Risk: A Systematic Review and Meta-analysis.

A genetic component is accepted in the etiology of the glioma. Evidence from candidate genes studies and GWAS reveal that CCDC26 gene could increase the risk of glioma. We performed a systematic review and up-to-date meta-analysis to explore if polymorphisms of CCDC26 gene (rs891835, rs6470745, and rs55705857) may be a susceptibility factor in developing glioma. An online search in PubMed, Web of Science, and SCOPUS up to September 2018 was performed. The pooled odds ratios were evaluated by fixed effects model and random effects model. Analyses of the overall sample and ethnic sub-groups were performed. In all the analyses, the allelic, additive, dominant, and recessive models were used. We found an association between all polymorphisms evaluated and an increased risk for glioma in the overall population in all the models studied. In sub-group analysis, we found that rs891835 and rs6470745 increased the risk of glioma in Europeans and Caucasians. On the other hand, the rs891835 polymorphism did not reveal any statistical association in Chinese population. Taken into consideration the limitations of this study, the present findings suggest a possible participation of rs891835, rs6470745, and rs55705857 as risk factors to develop glioma. Furthermore, it is possible that the involvement of CCDC26 variants depends on ethnicity. However, we recommend to perform further studies to have conclusive outcomes.

TIMD4 rs6882076 SNP Is Associated with Decreased Levels of Triglycerides and the Risk of Coronary Heart Disease and Ischemic Stroke.

Background: The T-cell immunoglobulin and mucin domain 4 gene (TIMD4) rs6882076 single nucleotide polymorphism (SNP) has been associated with serum total cholesterol, low-density lipoprotein cholesterol and triglycerides (TG) levels, but the results are inconsistent. Moreover, little is known about such association in Chinese populations. The aim of this study was to detect the association of the TIMD4 rs6882076 SNP and serum lipid levels and the risk of coronary heart disease (CHD) and ischemic stroke (IS) in a Southern Chinese Han population.Methods: Genotypes of the TIMD4 rs6882076 SNP in 1765 unrelated subjects (CHD, 581; IS, 559 and healthy controls, 625) were determined by the Snapshot Technology.Results: The genotypic and allelic frequencies of the TIMD4 rs6882076 SNP were different between the CHD/IS patients and controls (P < 0.05 for all). The subjects with CT/TT genotypes were associated with decreased risk of CHD (P = 0.014 for CT/TT vs. CC genotypes, P = 0.010 for T vs. C alleles) and IS (P = 0.003 for CT/TT vs. CC genotypes; P = 0.016 for T vs. C alleles). The T allele carriers in healthy controls were also associated with decreased levels of serum TG.Conclusions: The results of the present study suggest that the TIMD4 rs6882076 SNP is associated with decreased risk of CHD and IS in our study population. It is likely to decrease the CHD and IS risk by reducing serum TG levels.

Metabolic syndrome and risk of cancer in Chinese populations: a systematic review and meta-analysis in 57 260 individuals

BackgroundThe prevalence of metabolic syndrome is increasing in China and globally. Studies show that metabolic syndrome is associated with risk of cancer, but this association in Chinese populations remains unclear. We performed a systematic review and meta-analysis to evaluate the association between metabolic syndrome and cancer in Chinese populations. MethodsWe searched Embase, MEDLINE, PubMed, and WanFang databases for studies up to April 5, 2018. We included research that met the following criteria: (1) they investigated the association between metabolic syndrome and risk of cancers; (2) they were case-control or cohort studies; (3) they were conducted in Chinese individuals aged 20 years and over; (4) they contained information on the numbers of cases and controls. We adopted random-effects models in the meta-analysis to estimate the relative risk (RR) and 95% CIs. We also performed subgroup analysis by sex and cancer types. FindingsWe analysed 36 datasets from 22 articles, including 7273 cases of cancer (2429 with metabolic syndrome) and 49 987 controls (11 440 with metabolic syndrome). Overall, the presence of metabolic syndrome was associated with increased risk of cancer by almost two times (RR=1·96; 95% CI 1·63–2·35). The association was stronger in females (RR=2·18; 95% CI 1·67–2·86) than in males (RR=1·12; 95% CI 0·57–2·22). In females, the presence of metabolic syndrome was associated with ovarian (RR=3·42; 95% CI 2·84–4·11), endometrial (RR=2·53; 95% CI 1·56–4·08), cervical (RR=2·39; 95% CI 1·72–3·32), and breast cancers (RR=1·61; 95% CI 1·27–2·05). We did not identify an association with prostate cancer in males (RR=0·93; 95% CI 0·43–2·03). InterpretationThis is the first systematic review of the association between metabolic syndrome and risk of cancer among Chinese populations. Our results indicate an increased risk of cancer for individuals with metabolic syndrome, especially females. Our findings also highlight the urgent need for preventive measures and therapeutic interventions of metabolic syndrome in female individuals because of the rapidly growing disease burden. FundingNo funding.

The association of HLA-C alleles with multiple myeloma in Chinese patients

BackgroundThe positive association of multiple myeloma (MM) risk with HLA-C loci C*07:02 g and C*02:02 g, and the negative association of that with C*05:01 g were statistically significant in Whites have recently been reported. However, no association between HLA-C alleles and MM risk was found in Asians/Pacific Islanders. Here we identified 316 Chinese patients with MM, and reported the results of our investigation of HLA-C in MM in Chinese population.MethodsWe identified 316 Chinese patients with MM diagnosed in our hospital, and typed for HLA-C by using Sanger sequence-based typing. The control was from laboratories of China Marrow Donor Program (CMDP), where HLA high resolution was provided in 564,856 volunteer adult donors.ResultsIn contrast to the association of MM risk in Whites, we did not find the similar association in Chinese population. Nevertheless, four new associations between the MM risk were identified in Chinese patients. Our data demonstrated that Chinese patients with MM carry significantly increased frequencies of HLA-C*03:03 (FDR = 0.0269), HLA-C*07:63 (FDR = 0.0278) and HLA-C*08:22 (FDR = 0.0442) comparing with controls, while significantly decreased frequency of HLA-C*01:02 (FDR = 0.0414) comparing with controls.ConclusionTherefore, HLA-C region is a key risk locus for MM in Chinese population.

Common genetic variant rs3802842 in 11q23 contributes to colorectal cancer risk in Chinese population.

A genome-wide association study identified a common genetic variant rs3802842 at 11q23 to be associated with CRC risk with OR=1.1 and P = 5.80E-10 in European population. In Chinese population, several genetic association studies have investigated the association between rs3802842 variant and CRC risk. However these studies reported both positive and negative association results. It is still necessary to evaluate a specific variant in a specific population, which would be informative to reveal the disease mechanism. Until recently, there is no a systemic study to evaluate the potential association between rs3802842 and CRC risk in Chinese population by a meta-analysis method. Here, we aim to evaluate this association in Chinese population by a meta-analysis method using 12077 samples including 5816 CRC cases and 6261 controls. We identified the T allele of rs3802842 to be significantly related with an increase CRC risk (P=2.22E-05, OR=1.14, 95% CI 1.07-1.21) in Chinese population.

Association of genetic variations in IL-6/IL-6R pathway genes with gastric cancer risk in a Chinese population

Interleukin-6 (IL-6) and its receptor (IL-6R) were regarded to be responsible for the occurrence of gastric cancer for their regulation roles in the inflammation. The genetic variations in these two genes (IL-6: rs6949149, rs1800796, rs10499563 and IL-6R: rs2228145) have been suggested to be associated with gastric cancer risk. However, the published results were inconsistent among subjects of different ethnicity. To evaluate such an association in Chinese population, we carried out this case-control study based on 473 patients with gastric cancer and 474 healthy controls, whose genotypes were detected by the Sequenom MassARRAY platform, and Helicobacter pylori infection was assessed by immunogold testing kit. This study showed that rs1800796 CG genotype was associated with decreased risk of gastric cancer (adjusted OR=0.75, 95% CI: 0.57–0.99, p=0.043). The stratified analysis revealed that, in the Helicobacter pylori negative infection subgroup, rs2228145 AC (adjusted OR=0.64, 95% CI: 0.42–0.97) and AC/CC (adjusted OR=0.66, 95% CI: 0.45–0.99) genotypes were associated with decreased risk of gastric cancer, respectively. In contrast, in the Helicobacter pylori positive infection subgroup, rs10499563 TC (adjusted OR=0.64, 95% CI: 0.43–0.95), CC (adjusted OR=0.35, 95% CI: 0.14–0.90), TC/CC (adjusted OR=0.59, 95% CI: 0.40–0.87) genotype were associated with decreased gastric cancer risk, respectively. Moreover, in the male subgroup, rs1800796 CG (adjusted OR=0.61, 95% CI: 0.44–0.84) and CG/GG (adjusted OR=0.67, 95% CI: 0.49–0.91) genotype were associated with decreased risk of gastric cancer, respectively. In short, this study suggested that IL-6R rs2228145 and IL-6 rs10499563 genotype were associated with decreased risk of gastric cancer for the individuals with negative and positive Helicobacter pylori infection.

MTHFR C677T, A1298C and MS A2756G Gene Polymorphisms and Male Infertility Risk in a Chinese Population: A Meta-Analysis.

BackgroundMethylenetetrahydrofolate reductase gene (MTHFR C677T and A1298C) and methionine synthase gene (MS A2756G) polymorphisms have shown an association with male infertility risk in several ethnic populations. Although several studies have evaluated these associations in Chinese populations, their small sample sizes and inconsistent outcomes have prevented strong conclusions. Therefore, the present meta-analysis was performed with published studies to evaluate the associations of the three single nucleotide polymorphisms (SNPs) and male infertility in a Chinese population.MethodsWe conducted a search of PubMed, Embase, Web of Science, Chinese National Knowledge Infrastructure (CNKI), China biology medical literature (CBM), VIP, and Chinese literature (Wan Fang) databases up to May 31, 2016. Odds ratios (ORs) and 95% confidence intervals (95%CIs) were used to assess the strength of associations with a random-effect model or a fixed-effect model based on the heterogeneity analysis results. Sensitivity analysis was used to confirm the reliability and stability of the meta-analysis.ResultsA total of nine studies, including 1,713 cases and 1,104 controls, were included in the meta-analysis. The pooled results indicated that the MTHFR C667T polymorphism was significantly associated with increased risk of male infertility in the Chinese population in the allele model (T vs. C: OR = 1.47, 95%CI = 1.32–1.63), the dominant model (TT + CT vs. CC: OR = 1.51, 95%CI = 1.30–1.77), the additive model (TT vs. CC: OR = 2.08, 95%CI = 1.68–2.58) and the recessive model (TT vs. CT+CC: OR = 1.58, 95%CI = 1.31–1.90), whereas the MTHFR A1298C and MS A2756G polymorphisms were not risk factors. There was no significant heterogeneity in any genotype contrasts among the studies. The sensitivity analysis indicated that the results of this meta-analysis were relatively stable.ConclusionThis study suggests that the MTHFR C667T polymorphism may contribute to the genetic susceptibility to male infertility in the Chinese population, whereas MTHFR A1298C and MS A2756G polymorphisms may be unrelated to male infertility. Studies with larger sample sizes and representative population-based cases and well-matched controls are needed to validate our results.

Association of Genetic Polymorphisms in the LncRNAs with Gastric Cancer Risk in a Chinese Population.

Background: Genome-wide association studies have identified that polymorphisms in 8q24 confer susceptibility to gastric cancer. Polymorphisms in the lncRNA PRNCR1, PCAT1, and CCAT2 transcribed from the 8q24 locus have a potential risk for gastric cancer.Methods: To evaluate whether there is such an association in Chinese population, a case-control study enrolled 494 patients and 494 healthy controls was carried out. Sequenom MassARRAY platform was used for genotyping.Results: This study showed that rs16901946 G allele was associated with increased risk of gastric cancer (AG: adjusted OR = 1.33, 95% CI =1.02-1.73, p=0.033; GG: adjusted OR = 2.07; 95% CI = 1.11-3.86, p=0.023, AG/GG: adjusted OR = 1.39, 95% CI = 1.08-1.1.79, p=0.011; additive model: adjusted OR = 1.37; 95% CI = 1.10-1.70, p=0.004). Stratified analysis revealed that the increased risk was more evident in the cohort of younger subjects (adjusted OR = 1.84, 95% CI = 1.18-2.87, p=0.007), males (adjusted OR = 1.55, 95% CI = 1.15-2.08, p=0.004), positive Helicobacter pylori infection (adjusted OR = 1.44, 95% CI = 1.02-2.03, p=0.041), gastric cardia adenocarcinoma (adjusted OR = 1.61, 95% CI = 1.10-2.35, p=0.014), and tumor stage T1-T2 (adjusted OR = 1.58, 95% CI = 1.10-2.28, p=0.013).Conclusions: Our study suggested that rs16901946 G allele carriers have an increased risk of gastric cancer, and the risk could be enhanced by the interactions between the polymorphism and age, sex, Helicobacter pylori infection.

Vitamin D deficiency increases the risk of peripheral neuropathy in Chinese patients with type 2 diabetes.

Vitamin D deficiency was reported to be associated with diabetic peripheral neuropathy. But the association in Chinese population and the screening value of vitamin D deficiency for diabetic peripheral neuropathy were unknown. A total of 861 patients with type 2 diabetes were recruited in this cross-sectional study. Vitamin D deficiency was defined as serum circulating 25-hydroxyvitamin D(25(OH)D) level < 20ng/mL. Peripheral neuropathy was evaluated by neurological symptoms, neurological signs, neurothesiometer and electromyogram. The patients with diabetic peripheral neuropathy had significantly lower serum 25(OH)D concentration (15.59 ± 7.68ng/mL) and higher prevalence of vitamin D deficiency (80%) than patients with signs of diabetic peripheral neuropathy (17.66 ± 7.50ng/mL; 64.5%) and non-DPN patients (18.35 ± 6.60; 61.7%) (all p < 0.01). Spearman's correlation analysis showed that serum circulating 25(OH)D level was closely associated with DPN (r = 0.121) and signs of DPN (r = 0.111) (both p < 0.01). After adjusting for all potential confounders, VDD was still linked with increased risk of DPN [odds ratio 2.59 (1.48-4.53)] (p < 0.01). Logistical regression analysis further revealed that VDD was an independent risk factor for DPN (β = 0.88) (p < 0.01). Receiver operating characteristic analysis indicated that serum 25(OH)D < 17.22ng/mL hinted the signs of DPN and serum 25(OH)D < 16.01ng/mL predicted the occurrence of DPN (both p < 0.01). Vitamin D deficiency is an independent risk factor for diabetic peripheral neuropathy and may be a potential biomarker for peripheral neuropathy in Chinese patients with type 2 diabetes. Copyright © 2016 John Wiley & Sons, Ltd.

The association between CYP46A1 rs4900442 polymorphism and the risk of Alzheimer’s disease: A meta-analysis

Polymorphisms in the CYP46A1 rs4900442 have been controversially associated with increased risk of developing Alzheimer’s disease (AD). Therefore, a meta-analysis was performed to assess the possible association between CYP46A1 gene rs4900442 polymorphism and AD. A comprehensive search was conducted to identify all case–control or cohort design studies of the associations between CYP46A1 rs4900442 and AD. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using fixed-effects models. Heterogeneity among studies was evaluated using the I2 and funnel plot and Egger’s test were used to evaluate publication bias. Sensitivity analysis was also performed. Six case-control studies corresponded to the inclusion criteria including 1555 AD cases and 1347 controls for the present meta-analysis. Our results showed that no significant associations between CYP46A1 rs4900442 genetic polymorphism and risk of AD in allele model T vs. C (OR=0.947, 95%CI=0.853–1.051), dominant model CC+TC vs. TT (OR=0.878, 95%CI=0.734–1.049) and recessive model CC vs. TC+TT (OR=0.974, 95%CI=0.826–1.149). Moreover, in the subgroup analysis based on location (Chinese and Caucasian), there was significant association in Chinese population in allele model T vs. C (OR=0.780, 95%CI=0.628–0.968), although no obvious associations were found in Caucasian. The meta-analysis suggested that CYP46A1 rs4900442 genetic polymorphism was associated with increased risk of AD in the Chinese population, but no evidences were detected in Caucasian population.