Objective To investigate the association of neural differentiation factor 1 (NeuroD1) Ala45Thr polymorphism with type 2 diabetes by meta-analysis.Methods The electronic databases were retrieved from PubMed,EMBASE,CNKI,VIP fulltext database,and Wanfang fulltext database.Literatures about the association of NeuroD1 Ala45Thr polymorphism with type 2 diabetes from 2004 to 2012 were searched.The selected studies from 2004 to 2012 were included to analyze data based on the published meta-analysis of the NeuroD1 (Ala45Thr) gene polymorphism and type 2 diabetes written by Kavvoura,et al.The odds ratio of NeuroD1 (Ala45Thr) genotype distributions in type 2 diabetic patients compared with healthy control were analyzed.Rev-Man 5.0 software was applied for investigating hereogeneity among individual studies and summarizing effects with proper statistical methods.Thirteen case control studies were enrolled.Results A total of 3 896 patients and 3 186 control subjects were enrolled for the study.The pooled ORs of Thr45Thr45/(Ala45Thr+ Ala45Ala45) genotype in type 2 diabetes mellitus and control groups were 3.16 (95％ CI0.99-10.11) in the subgroup of yellow race and 1.09(95％ CI0.90-1.32) in the subgroup of white race,with no statistically significant difference(P＞0.05).The pooled OR of G/A allele in type 2 diabetes mellitus and control groups was 0.85 (95 ％ CI 0.72-0.99)/1.18 (95％ CI 1.07-1.38),with statistically significant difference (Z =2.02,P =0.04).Conclusions The A allele of NeuroD1 (Ala45Thr) locus may be a risk factor for type 2 diabetes mellitus.

ObjectiveTo study the characteristics of serum metabolites in two Uyghur families with maturityonset diabetes of the young(MODY).MethodsTwo MODY families were composed of four generations of Uyghur with 52 members collected from Kashgar region,Xinjiang Uyghur Autonomous Region.The general information,blood glucose and lipid levels,and blood pressure were analyzed.Using 1H nuclear magnetic resonance (1H NMR )spectroscopy,serum metabolites were measured for each subject.After having conducted data pretreatment on the spectrogram,orthogonal partial least squares discriminant analysis ( OPLS-DA ) was used to interpret data.The subjects were divided into two groups according to blood glucose ( diabetes and non-diabetes ),blood pressure,body mass index ( BMI ) for comparing differences in the metabolites.The differences of serum metabolic components between two groups were determined using pearson correlation coefficients with significant difference detection and two-dimensional spectrum technology.Results lsoleucine and tyrosine levels in diabetes group were decreased significantly,while α-glucose and β-glucose levels were increased significantly compared with non-diabetes group( all P＜0.05 ).Citrate,phaseomannite,1 -methyl histidine,and tyrosine levels in hypertension group were all decreased significantly compared with normal blood pressure group( all P＜0.05 ).No significant metabonomic differences were observed between normal BMI group and high BMI group.ConclusionsMetabonomic changes in diabetic patients from MODY families indicate that diabetic patients suffer from disordered tricarboxylic acid cycle ( TCA cycle )metabolism,with reduced glycolysis of glycogen in liver and muscle.There exist the metabolic disorder in TCA cycle and obstruction of fat metabolism in patients with hypertension from the MODY families.

To study the status of diet and nutrition in Uyghur families with maturity onset diabetes of young (MODY).Four MODY families were composed of four generations of Uyghur with 50 members collected from Kashgar,Shanshan,and Ili regions of Xinjiang Uyghur Autonomous Region.A dietary survey with a semi-quantitative food frequency questionnaire was conducted.According to the sex and different intensities of physical activity,the nutrient intake was calculated by nutrition calculator software,and the results were compared with recommended nutrients intake(RNI).Cereals,livestock,and poultry meat,being the main food stuff in Uyghur MODY families,accounted for 54.11％ and 13.87％ of total energy respectively,while fruit,fish,and shrimps were seldom taken,and accounted for 0.41％ and 0.26％ of total energy respectively.Carbohydrate,protein,and fat accounted for 55.0％,16.7％,and 28.4％ of total energy intake respectively,within the scope of the RNI for diabetes suggested by both Chinese Diabetes Society and the American Diabetes Association.The total energy and all three major nutrients were excessively taken by subjects of different genders and different intensities physical activity from Uyghur MODY families in Xinjiang.Uyghur diets lead to excessive calorie intake in the Uyghur MODY family members.The Health education of Uyghur language and text should be strengthened,so as to improve the scientific dietary knowledge.

Objective To study the effects of nicotinamide on the human skin melanocytes and try to explore the potential mechanism of nicotinamide on the calcium signal transduction,cytoskeleton.Methods The primary cultured human skin melanocytes from foreskin were selected as the target cells in the present study.0.00,0.05,0.25,1.25 and 6.25 mg/ml nicotinamide were applied respectively.Western blot,fluorescent probes(Flu-3AM),flow cytometry analysis and time-lampse microscope digital skill were used to evaluate the effects of nicotinamide on melanosome motility and the melanosome distribution in melanocytes.Results The results showed that nicotinamide had a potential effect on regulating free calcium concentration in a dose-dependent manner(y=76.461 2-5.435x,r=0.97);The activity of Na+-K+-Ca2+-ATPase was down regulated with the increasing concentration of nicotinamide.The expression of cellular dynein was also altered by nicotinamide;Na +-K+-Ca2+-ATPase activity was kept normal when given 0.05,0.25 mg/ml nicotinamide,while the dynein protein expression was inhibited(P

The development of new generation sequencing technologies has brought new opportunities for the study of diseases. Exome sequencing has shown to be an effective, rapid, high performance technique that has already been used in research of inherited diseases such as monogenic disorders. It has already been approved by scientists in the field of monogenic disorder study, and will become widely used. This approach will accelerate discovery of the causative genes of Mendelian disorders. This article reviews some recent applications of exome sequencing in the study of gene-related diseases.
Exome ; genetics ; Genetic Association Studies ; Genetic Diseases, Inborn ; genetics ; Humans ; Sequence Analysis, DNA

Objective To investigate the correlation between the incidence of type 2 diabetes mellitus (T2DM) with hypertension and the levels of some elements in serum, and to provide a more scientific and reasonable basis for the control of T2DM. Methods A total of 1 024 T2DM patients admitted to a top three hospital in Urumqi from March 2015 to May 2016 were selected. Patients with T2DM were divided into T2DM with hypertension group and T2DM without hypertension group according to the presence or absence of hypertension. Various elements levels in the serum were analyzed. The correlation between serum levels and the incidence of hypertension with T2DM was analyzed, and the related risk factors were explored by using logistic regression. Results Among 1 024 T2DM patients, 627 patients had hypertension, accounting for 61.20%, while 397 patients had no hypertension, accounting for 38.80%. There was a positive correlation between serum sodium and magnesium levels with T2DM in hypertension (P<0.05). The increase of serum sodium level and the decrease of magnesium level were the risk factors of T2DM with hypertension. This result suggested that the difference of serum levels of various elements may play a role in the occurrence and the development of T2DM. Conclusions Serum sodium and magnesium levels were positively correlated with the incidence of T2DM with hypertension. The increase of serum sodium level and the decrease of magnesium level were influencing factors of the incidence of T2DM with hypertension. This study suggests that the serum levels of sodium and magnesium play a role in the occurrence and development of T2DM.