[Application of 3D printing percutaneous guide plate in closed reduction and cannulated screw internal fixation of femoral neck fracture].

OBJECTIVE: To investigate the application of 3D printing percutaneous surgical guide plate in closed reduction and cannulated screw internal fixation of femoral neck fracture. METHODS: The clinical data of 12 patients with femoral neck fracture from March 2019 to March 2022 were retrospectively analyzed. Patients were divided into observation group and control group according to different operation plans, with 6 cases in each group. The observation group received percutaneous operation guide plate assisted closed reduction and hollow screw internal fixation, while the control group received closed reduction and hollow compression screw internal fixation. The operation time, intraoperative blood loss, fluoroscopy times, and Kirschner needle puncture times were compared between two groups. The location of screws were recordedon postoperative X-ray films, follow-up time, time of complete fracture healing, Harris score of hip joint and the incidence of complications were recorded on postoperative X-ray films. RESULTS: The operation time of observation group (32.17±6.18) min was shorter than that of control group (53.83±7.31) min (P<0.05). The amount of intraoperative bleeding in the observation group (18.33±2.94) ml was less than that in the control group (38.17±5.56) ml(P<0.05). The times of fluoroscopy in the observation group (7.50±1.05) were less than those in the control group (21.00±4.82) (P<0.05). The number of Kirschner needle punctures (8.00±0.63) in observation group was less than that in control group (32.67±3.08) (P<0.05). The follow-up time was(12.88±0.74) months in observation group and (12.83±0.72) months in control group, there was no significant difference between two groups (P>0.05). One year after operation, Harris score of hip joint in the observation group was(82.00±4.52) points, while that in the control group was(81.00±3.41) points, there was no significant difference between two groups(P>0.05). The time of complete fracture healing in the observation group was (7.50±1.05) months, while that in the control group was (7.67±1.21) months, there was no significant difference between two groups(P>0.05). The parallelism of the screws in the observation group was (0.50±0.11) ° and (0.76±0.15) °, which were lower than that in the control group (1.57±0.31) ° and (1.87±0.21) ° (P<0.05). The screw distribution area ratio (0.13±0.02) cm2 in the observation group was higher than that in the control group (0.08±0.01) cm2 (P<0.05). No complications such as necrosis of femoral head, nonunion of fracture, shortening of femoral neck and withdrawal of internal fixation occurred in both groups. CONCLUSION: The application of 3D printing percutaneous surgical guide plate improves the accuracy and safety of closed reduction and cannulated screw internal fixation for femoral neck fracture. It has the advantages of minimally invasive, reducing radiation exposure, fast and accurate, shortening the operation time and reducing intraoperative bleeding.

Multi-Omics Analysis Reveals the Pan-Cancer Landscape of Bone Morphogenetic Proteins.

BACKGROUND Bone morphogenetic proteins (BMPs) are widely involved in cancer development. However, a wealth of conflicting data raises the question of whether BMPs serve as oncogenes or as cancer suppressors. MATERIAL AND METHODS By integrating multi-omics data across cancers, we comprehensively analyzed the genomic and pharmacogenomic landscape of BMP genes across cancers. RESULTS Surprisingly, our data indicate that BMPs are globally downregulated in cancers. Further genetics and epigenetics analyses show that this abnormal expression is driven by copy number variations, especially heterozygous amplification. We next assessed the BMP-associated pathways and demonstrated that they suppress cell cycle and estrogen hormone pathways. Bone morphogenetic protein interacts with 58 compounds, and their dysfunction can induce drug sensitivity. CONCLUSIONS Our results define the landscape of the BMP family at a systems level and open potential therapeutic opportunities for cancer patients.

Identification of immunodominant IgE epitopes of the major house dust mite allergen Der f 24.

Previously, a ubiquinol­cytochrome c reductase binding protein (UQCRB) homolog was identified in the house dust mite (HDM) species Dermatophagoides farinae (Der f) as a major allergen. In the present study, the immunodominant immunoglobulin E (IgE) epitope of the protein Der f 24 was investigated. Analysis of the homologous amino acid (aa) sequences in Der f and human UQCRB was performed. Four different recombinant Der f 24 and hybrid proteins formed by integrating Der f and human UQCRB sequences were expressed in Escherichia coli, purified using Ni­NTA resins, and IgE­binding activity was determined using IgE­western blotting and enzyme­linked immunosorbent assay (ELISA) experiments. IgE epitopes were further identified by IgE­dot blotting and IgE­ELISA with synthetic polypeptides and HDM­allergic sera. Three­dimensional (3D) structural modeling was used to analyze the position of the immunodominant IgE epitope. The amino acid sequence homology between Der f 24 and the human UQCRB protein was determined to be 39.34%. IgE­ELISA and western blot analysis showed that all of the Der f­human UQCRB hybrid proteins generated, except for the one lacking 59 residues of the N­terminal region of Der f 24, were bound by allergic serum IgE. A synthetic polypeptide consisting of 32 residues of the N­terminal reacted with IgEs from HDM­allergic sera and could be used to generate high titer specific IgG or specific IgE antibodies in immunized mice. The 32­aa N­terminal region of Der f 24 was localized to a structural protrusion, which may facilitate specific IgE­binding. These results indicate that the immunodominant IgE epitope of Der f 24 is located mainly in a 32­residue region of the N­terminus. These findings may inform the mechanisms of HDM allergy sensitization and allergy immunotherapy development.

Wetting of polymer surfaces by aqueous solutions of branched cationic Gemini surfactants.

The adsorption of xylyl-substituted biquaternary ammonium salt Gemini surfactants with different spacer (C3 and C6) at polytetrafluoroethylene (PTFE) and polymethylmethacrylate (PMMA) surfaces has been investigated and the different adsorption parameters such as surface tension, contact angle, adhesional tension, solid-water interfacial tension and work of adhesion have been estimated. The results show that C3 and C6 have similar adsorption behaviors at PTFE and PMMA surfaces. C3 and C6 adsorb gradually at a PFTE-water interface via hydrophobic interactions and the adsorption amounts at the water-air interface are almost three times higher than those at the PTFE-water interface due to the steric hindrance effect. However, the contact angle keeps constant throughout the experimental concentration range because the decrease in surface tension just counterbalances the decrease in PFTE-water interfacial tension. On the other hand, C3 and C6 adsorb at the PMMA surface via polar interactions between xylyl and functional groups of PMMA before CMC. Similar to PTFE, the increase in PMMA-water interfacial tension compensates the decrease in surface tension and the contact angle also shows a stationary value before the CMC. A bi-layer structure of C3 and C6 will be formed at the PMMA-water interface via hydrophobic interaction and PMMA-water interfacial tension decreases consequently after the CMC, which results in the decrease in contact angle.

Combined metabolic, phenomic and genomic data to prioritize atrial fibrillation-related metabolites.

Metabolites in atrial fibrillation (AF) were characterized to further explore the molecular mechanisms of AF by integrating metabolic, phenomic and genomic data. Gene expression data on AF (E-GEOD-79768) were downloaded from the EMBL-EBI database, followed by identification of differentially expressed genes (DEGs) which were used to construct gene-gene network. Then, multi-omics composite networks were constructed. Subsequently, random walk with restart was expanded to a multi-omics composite network to identify and prioritize the metabolites according to the AF-related seed genes deposited in the OMIM database, the whole metabolome as candidates and the phenotype of AF. Using the interaction score among metabolites, we extracted the top 50 metabolites, and identified the top 100 co-expressed genes interacted with the top 50 metabolites. Based on the FDR <0.05, 622 DEGs were extracted. In order to demonstrate the intrinsic mode of this method, we sorted the metabolites of the composite network in descending order based on the interaction scores. The top 5 metabolites were respectively weighed potassium, sodium ion, chitin, benzo[a]pyrene-7,8-dihydrodiol-9,10-oxide, and celebrex (TN). Potassium and sodium ion possessed higher degrees in the subnetwork of the entire composite network and the co-expressed network. Metabolites such as potassium and sodium ion may provide valuable clues for early diagnostic and therapeutic targets for AF.

Berberine attenuates sodium palmitate-induced lipid accumulation, oxidative stress and apoptosis in grass carp(Ctenopharyngodon idella)hepatocyte in vitro.

The objective of this work was to investigate the effect of berberine (BBR) on the Cell viability, lipid accumulation, apoptosis, cytochrome c, caspase-9 and caspase-3 in lipid accumulation-hepatocytes induced by sodium palmitate in vitro. The lipid accumulation-hepatocytes (induced by 0.5 mM sodium palmitate for 24 h) were treated with 5 µM berberine for 12 h. Then, the Cell viability, intracellular triglyceride (TG) content, lipid peroxide (LPO), malonaldehyde (MDA) content, cytochrome c, caspase-9, caspase-3 and apoptosis were detected. Sodium palmitate decreased Cell viability and increased intracellular TG content, lipid droplet accumulation, LPO and MDA concentrations, caused caspase-3 and caspase-9 activation, then led to apoptosis accompanied by cytochrome c release from mitochondria into the cytoplasm. Beberine could improve intracellular lipid droplet accumulation and oxidative stress, while reduce apoptosis induced by sodium palmitate.

[Relationship between genetic variation of furin gene and hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population].

OBJECTIVE: To investigate the relationship between the genetic variation of Furin gene and the hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population. METHODS: Based on a cross-sectional epidemiological study in a Kazakh general population, a case-control study including 878 subjects was conducted. All the sequence variant-located promoters and exon regions of Furin gene were identified by the direct sequencing of PCR products in 48 randomly selected hypercholesterolemic individuals (24 males and 24 females). After having genotyped the representative polymorphisms in 878 subjects by TaqMan PCR, we investigated the relationship between genetic variation of Furin and hypercholesterolemia/hyper-low-density lipoprotein cholesterolemia in these subjects. RESULTS: Twelve genetic variations in Furin gene were identified by sequencing 48 hypercholesterolemic individuals and 4 common single nucleotide polymorphisms (rs6226, rs6227, rs2071410, and rs4932178)were selected as the representatives for genotyping in these subjects. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes, alleles, and haplotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphisms did not differ significantly between the hypercholesterolemia group and the control groups or between the hyper-low-density lipoprotein cholesterolemia group and the control groups (all P>0.05). The cholesterol and low-density lipoprotein cholesterol levels did not differ significantly among individuals with different genotypes (all P>0.05). CONCLUSION: The genetic variation of Furin may not be associated with hypercholesterolemia or hyper-low-density lipoprotein cholesterolemia in Kazakh general population.

[Association between sequence variation of Furin gene and obesity in ethnic Kazakh from Xinjiang].

OBJECTIVE: To assess the association between sequence variation of Furin gene and obesity in ethnic Kazakh population in Xinjiang region. METHODS: Based on a cross-sectional epidemiological study, a case-control study was conducted. All sequence variants located promoter and exon regions of Furin gene were identified with direct sequencing of PCR products from 66 randomly chosen obese individuals (33 males and 33 females). Polymorphisms representative of a general ethnic Kazakh population (856 subjects, including 364 males and 492 females, 478 from obesity group and 378 from control group) were determined by TaqMan PCR, the association between sequence variation of Furin gene and obesity was assessed. RESULTS: Twelve sequence variations in Furin gene were identified through sequencing of 66 obese individuals. And 4 common SNPs (rs6226, rs6227, rs2071410 and rs4932178) were selected as representative polymorphisms for the general Kazakh population. Above polymorphisms were successfully typed in all subjects. Distribution of the genotypes, alleles, and haplotypes formed by such polymorphisms did not differ significantly between the case and control groups or males and females (P>0.05). The waist circumference also did not differ significantly among individuals with different genotypes (P>0.05). CONCLUSION: Genetic variations of Furin gene are not associated with obesity in Kazakh general population.

A common variation within the STEAP4 gene exons is associated with obesity in Uygur general population.

BACKGROUND: Coordinated regulation of nutrient and inflammatory responses by six transmembrane epithelial antigen of prostate 4 (STEAP4) was essential for metabolic homeostasis. STEAP4 expression in human white adipose tissue was associated with obesity. This study aimed to evaluate association between STEAP4 genetic polymorphisms and obesity in Uygur Chinese general population. METHODS: The functional regions of STEAP4 gene were sequenced in 96 Uygur with obesity (body mass index (BMI) > 30 kg/m²). Representative variations were selected according to the function and linkage disequilibrium and genotyped in 1507 obesity (BMI ≥ 25 kg/m²) and 825 non-obesity control (BMI < 25 kg/m²), all of whom were selected from epidemiology study of obesity-related diseases during January to February 2007 among Uygur population in Hetian area of Xinjiang Uygur Autonomous Region. RESULTS: Fourteen novel and 6 known single nucleotide polymorphism (SNPs), including 2 nonsynonymous SNPs (nsSNPs), in the STEAP4 gene were identified. Of the 3 representative SNPs, the nsSNP rs1981529 (Gly75Asp, 224A/G) was significantly associated with obesity phenotype (additive P/Pc = 0.001/0.006, dominant P/Pc = 0.003/0.018, odds ratio (OR) and 95% confidence interval (CI) adjusted for age, gender and drinking 0.755 (0.641 - 0.890) and 0.750 (0.621 - 0.907), respectively). By the multiple linear regression analysis, the quantitative phenotypes of BMI (P/Pc = 0.002/0.004) and waist circumference (P/Pc = 0.004/0.008) were found to be significantly associated with the genotypes of rs1981529 (Gly75Asp, 224A/G) in Uygur general population, and effect size (beta value) of one allele G of rs1981529 (Gly75Asp, 224A/G) was - 0.553 kg/m² for BMI and - 1.311 cm for waist circumference after controlling age, gender and drinking factors. CONCLUSIONS: The present study shows an association of the common variation rs1981529 (Gly75Asp, 224A/G) in the STEAP4 gene with obesity in Uygur general population. Further studies should replicate the results using larger populations.

Association of genetic variations of the prostasin gene with essential hypertension in the Xinjiang Kazakh population.

BACKGROUND: Transgenic overexpression of human prostasin in rats disturbs salt balance and causes hypertension. We investigated whether genetic variations in prostasin were implicated in hypertension or related phenotypes in the Xinjiang Kazakh population. METHODS: We sequenced all exons and the promoter regions of the prostasin gene in 94 hypertensive individuals, and the genotype identification was performed by the TaqMan polymerase chain reaction method. Case-control studies were conducted in 938 Kazakh subjects. RESULTS: E342K and 2827G > A, which are novel variants, were successfully genotyped in the general Xinjiang Kazakh population with a sample size of 938 individuals (406 men and 532 women). Only one hypertensive patient was identified with the E342K mutation. No significant association was observed between 2827G > A and hypertension. However, quantitative traits of hypertensive intermediate phenotypes were significantly associated with the A allele; P = 0.041 and 0.034 for body mass index (BMI) in the additive and recessive models, P = 0.042 and 0.018 for OGTT-2h glucose in the additive and recessive models, P = 0.031 for IRT-3h insulin in the recessive model, and P = 0.038 for serum potassium in the dominant model. CONCLUSIONS: This study does not provide evidence of a major role of prostasin variation in blood pressure modulation. However, association of prostasin polymorphisms with hypertension and metabolic effects can be observed in our population. Further investigation is warranted to clarify the relevance of prostasin polymorphisms to blood pressure regulation.

[Association of STEAP4 genetic polymorphisms with insulin resistance in Uygur Chinese general population].

OBJECTIVE: To explore the relationship between six-transmembrane epithelial antigen of prostate 4 (STEAP4) genetic polymorphisms and insulin resistance (IR) in Uygur Chinese general population. METHODS: In this cross-sectional study on the metabolic diseases (e.g. obesity) among Uygur Chinese in Hetian, Xinjiang, China,from January to February 2007, 2127 Uygur individuals were enrolled. The sample size for IR subjects [homeostasis model assessment for insulin resistance (HOMA-IR) ≥2.3 65%] was 669, whereas that for non-IR controls was 664 (HOMA-IR≤1.335%). STEAP4 gene was sequenced in 50 Uygur Chinese individuals with IR (HOMA-IR≥2.3). The representative variations were selected from the population based on a r(2) cutoff of 0.8 and a minor allele frequency of >5% for case-control study. RESULTS: Totally 16 variations including 10 novel variations (no reported in dbSNP) were identified in 50 Uygur individuals with IR. 7414 G/A (rs8122)(P/Pc=0.004/0.012)and 224A/G (rs1981529, Gly75Asp)(P/Pc=0.015/0.045)variations were significantly correlated with IR phenotype in Uygur subjects. As shown by multiple linear regression analysis, the mean values of waist circumference (WC) (P/Pc=0.032/0.256), body mass index (BMI) (P/Pc=0.004/0.032), HOMA-IR (P/Pc=0.010/0.08), and fasting insulin (P/Pc=0.023/0.184) among A (protection) allele carriers of rs8122 and the mean values of WC (P/Pc=0.005/0.040) and BMI (P/Pc=0.002/0.016) among G (protection) allele carriers of rs1981529 gradually declined. Haplotype 1 (rs8122 G- rs1981529 A- rs34741656 G) was significantly associated with a higher prevalence of IR (Permutation P=0.021). CONCLUSION: STEAP4 genetic variations are likely to be associated with obesity-related insulin resistance in Uygur Chinese general population.

[Epidemiological survey of lipid levels and factors in Kazakan people over 30-year old in Fukang of Xinjiang].

OBJECTIVE: To study the lipids level in Kazakan individuals over 30-year-old in Fukang area of Xinjiang. METHODS: Random cluster multistage sampling method were performed to select the subjects, and 991 individuals aged older than 30 from Fukang of Xinjiang were included. The plasma total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), plasma glucose and insulin were measured. Related adverse cardiovascular risk factors were discussed. RESULTS: The mean plasma TC, TG, HDL-C and LDL-C of Kazakan residents over 30-year-old in Fukang of Xinjiang were (5.05 ± 1.07), (1.10 ± 0.66), (1.46 ± 0.38) and (3.06 ± 0.84) mmol/L, respectively. TC, TG and LDL-C levels in male subjects were higher than those in females (male vs female: TC: (5.19 ± 1.05) mmol/L vs (4.94 ± 1.07) mmol/L, t = 3.57, P < 0.01; TG: (1.32 ± 0.80) mmol/L vs (0.94 ± 0.46) mmol/L, t = 8.63, P < 0.01; LDL-C: (3.30 ± 0.85) mmol/L vs (2.88 ± 0.79) mmol/L, t = 8.06, P < 0.01). While the HDL-C level in male subjects was lower than that of female (male vs female: (1.32 ± 0.33) mmol/L vs (1.57 ± 0.38) mmol/L, t = 11.48, P < 0.01). The prevalence of dyslipidemia was 28.3% (280/991) in the overall populations. In the overall populations, the prevalence of hypercholesteremia, hypertriglyceridemia, high low-density lipoprotein cholesterolemia and low serum high density lipoprotein cholesterolemia were 12.6% (125/991), 6.6% (65/991), 11.0% (109/991) and 10.1% (100/991), respectively. The prevalence of individuals with borderline-high TC, TG and LDL-C were 27.0% (268/991), 7.6% (75/991) and 20.5% (203/991), respectively. The prevalence of dyslipidemia was 40.0% (172/430) in male populations. The prevalence of dyslipidemia in group aged 30 - 39, 40 - 49, 50 - 59, 60 and above were 26.2% (78/298), 26.0% (91/350), 31.2% (73/234) and 34.9% (38/109), respectively, the trend of prevalence was significant by trend test for groups comparison (χ(2) = 3.94, P < 0.05). Adjusting for age and gender, TG was positively correlated with waist circumference, abdominal circumference and BMI, the partial relation coefficients were 0.368 (P < 0.01), 0.336 (P < 0.01) and 0.331 (P < 0.01), respectively, and HDL-C was negatively correlated with waist circumference, abdominal circumference and BMI, the partial relation coefficients were -0.340 (P < 0.01), -0.339 (P < 0.01) and -0.321 (P < 0.01), respectively. CONCLUSION: The lipid levels of Kazakan residents from Fukang area are high and are characterized by hypercholesteremia and high low-density lipoprotein cholesterolemia, and more attention of the prevention of dyslipidemia in this populations should be paid to males, border-line abnormal and those aged over 60-year old.

[Genetic variations of bone morphogenetic protein 7 gene are associated with hypertriglyceridemia of Uygur Chinese in Xinjiang].

OBJECTIVE: To analyze the association between the genetic variations of functional region in bone morphogenetic protein (BMP7) gene and dyslipidemia in Chinese Uygur individuals. METHODS: The case-control study was conducted in 1514 Uygur Chinese based on epidemiological investigation. The all exons, segmental introns and the promoter regions of BMP7 gene were sequenced in 48 out of 1514 Uygur Chinese. Representative variations were then selected according to the minor allele frequency (MAF) and linkage disequilibrium, and genotyped using the TaqMan polymerase chain reaction method in 1514 Uygur Chinese, a relatively isolated general population in a relatively homogeneous environment, to observe the association between genetic variations of BMP7 gene and dyslipidemia. RESULTS: Five novel and eight known variations in the BMP7 gene were identified. All genotype distributions were tested for deviations from Hardy-Weinberg equilibrium. There were significant differences of genotype distribution of rs6025422 between hypertriglyceridemia group and control group (P = 0.001). The levels of triglyceride (TG) showed a decreasing tendency in individuals with AA, AG and GG genotypes of rs6025422. Odd ratio (OR) value adjusted for age, gender, body mass index, smoking and alcohol drinking habits was 0.562 by logistic regression analysis (95%CI: 0.393 - 0.802, P = 0.002). CONCLUSION: The present study shows rs6025422 polymorphism in the BMP7 gene is linked with hypertriglyceridemia phenotype in Uygur Chinese population.

[Genetic variation and association of STEAP4 gene with metabolic syndrome in Chinese Uygur patients].

OBJECTIVE: To investigate the genetic variations of the six transmembrane epithelial antigen of prostate 4 gene (STEAP4) in Chinese Uygur patients with metabolic syndrome (MetS) and to analyze the association of the representative genetic variations of STEAP4 gene with MetS in the population. METHODS: The sequences of STEAP4 gene functional region (all exons, exon-intron boundaries and the putative promoter region, including the -1 kb 5'and 3'untranslated regions) were amplified and sequenced for patients with MetS. The representative variations were selected based on the function (missense mutation) and linkage disequilibrxium (γ² > 0.8) and genotyped with TaqMan-PCR method in 1910 general populations (682 MetS and 1228 non-MetS controls). The subjects were selected from the cross-sectional study of obesity, hypertension, diabetes, dyslipidemia from January to February 2007 among Uygur people, a relatively isolated population with a relatively homogeneous environment, in Hextian area in Xinjiang Uygur Autonomous Region. RESULTS: (1) Fourteen novel and six known single nucleotide polymorphisms (SNPs) or mutations, including 2 missense mutations, were identified at the functional region of STEAP4 gene in 96 Uygur patients with MetS. The minor allele frequencies of the SNPs of STEAP4 gene in Uygur population were different from that in European and Chinese Han in Beijing area. (2) The SNP 364G/A (rs34741656, Ala122Thr) was significantly associated with MetS [dominant model P = 0.034, OR = 0.757(95%CI: 0.584-0.982) adjusted for age and gender], and was associated with fasting blood glucose (FBG) (P = 0.049) and 2-hour postprandial glucose (2HPG) (P = 0.027) levels in controls. In this SNP, the AA carriers had lower blood glucose levels compared with subjects carrying GG and GT genotypes. (3) The common haplotype H4 (rs8122/rs1981529/ rs34741656, G-A-A), may be associated with MetS (permutation P = 0.089). CONCLUSION: STEAP 4 genetic polymorphisms may be associated with MetS risk in Chinese Uygur population.

[Relationship between rs3865418 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene and obesity in Kazakh general population].

OBJECTIVE: To investigate the relationships between rs3865418 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene and obesity in Kazakh general population. METHODS: Based on a cross-sectional epidemiological study in a Kazakh general population, a case-control study was conducted. The rs3865418 polymorphism in a Kazakh general population (856 subjects, including 364 males and 492 females; 478 in obesity group and 378 in normal control group) was genotyped by TaqMan polymerase chain reaction, and the relationship between rs3865418 polymorphism and obesity was analyzed. RESULTS: The rs3865418 polymorphism was successfully genotyped in 851 Kazakh subjects. The distribution of the genotypes and alleles of rs3865418 polymorphism did not differ significantly between the obesity group and normal control group in terms of general populations, males, and females (all P > 0.05). The waist circumference showed a tendency of C/C > C/T > T/T in males and C/C < C/T < T/T in females, but without statistical significance (P > 0.05). CONCLUSIONS: The rs3865418 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene may not be associated with obesity in Kazakh general population. In other words, it is not a predisposing factor for obesity in Kazakh.

[Association between rs4149601 polymorphism and essential hypertension in Kazakh].

OBJECTIVE: To investigate the association between a functional rs4149601 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) and essential hypertension in Kazakh. METHODS: In this population-based association study, the genotypes of rs4149601 polymorphism were identified by TaqMan PCR in 883 subjects (male 375 383 hypertensives) and its distribution and relationship to hypertension were studied. The association between haplotype (rs4149601, 296921-296923delTTG, rs2288774 and rs2288775, the last three polymorphisms are representative variations identified from 94 Kazakh hypertensive individuals by screening the functional region of NEDD4L previously) and hypertension was also investigated. RESULTS: The genotype distribution of rs4149601 polymorphism was in Hardy-Weinberg equilibrium. The genotype distribution of rs4149601 polymorphism was similar between the essential hypertension patients and the control individuals (all P > 0.05). In the haplotype-based case-control analysis, the distribution of the haplotypes was not significantly different between the case and the control individuals in total and in male subjects but the frequency of D-C-G-G (296921-3delTTG/rs2288774/rs2288775/rs4149601) haplotype was significantly higher in hypertensive than in control individuals in female (P = 0.026). CONCLUSION: Our results suggested that D-C-G-G haplotype of NEDD4L but not rs4149601 polymorphism was linked with hypertension in Kazakh.

[Association of the rs4149601 polymorphism of NEDD4L gene with obesity in Xinjiang Kazakh population].

OBJECTIVE: To investigate the association of the rs4149601 polymorphisms of neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) and obesity in Xinjiang Kazakh population. METHODS: The rs4149601 polymorphism of the NEDD4L gene was genotyped in a Xinjiang Kazakh general population including 856 subjects (aged 30 to 60 years, 478 obese and 378 control individuals). RESULTS: The polymorphism was successfully genotyped in 853 Xinjiang Kazakh subjects. The distribution of the additive model and dominant model (AG+ AA vs. GG) of the rs4149601 polymorphism differed significantly between the case and control in both total and females (all P< 0.05). After adjusting for confounding factors, logistic regression analysis showed that the rs4149601 polymorphism (in dominant model) was significantly associated with obesity (OR= 1.479, 95% CI: 1.103-1.983, P= 0.009) in Kazakh. Covariate variance analysis showed that compared with subjects with AA + AG genotypes, the waist circumference was significantly higher in subjects with GG genotype after adjusting for age, smoking and drinking (P= 0.028). CONCLUSION: The genetic variations of the NEDD4L gene may be associated with obesity in Xinjiang Kazakh general population.

Association of genetic variations of regulator of G-protein signaling 2 with hypertension in the general Xinjiang Kazakh population.

Mice deficiency in regulator of G-protein signaling 2(RGS2) showed an evident hypertension phenotype. Here, we studied associations of genetic variations of RGS2 with essential hypertension in the Kazakh population. Two identified nonsynonymous mutations (K18N, Y178C) were not specific for hypertension. A significant association was observed between 1891-1892 TC insertion/deletion with hypertension in men (OR = 1.698, P = 0.03 ) and in total population (OR = 1.32, p = 0.044) in dominant model. The mean systolic blood pressure (SBP) of the ID+DD group was significantly higher than that of the II group (adjusted, p = 0.044). Our results suggest that D allele of 1891-1892 TC insertion/deletion of RGS2 might be an independent risk factor for hypertension in Xinjiang Kazakhs.

The prevalence of hypertension, obesity and dyslipidemia in individuals of over 30 years of age belonging to minorities from the pasture area of Xinjiang.

BACKGROUND: The prevalence of population-wide hypertension, obesity and dyslipidemia has not been well studied in the pasture area of Xinjiang. The present epidemiological study was performed to determine the prevalence of hypertension, obesity and dyslipidemia in minority populations from the pasture area of Xinjiang and to discuss the potential risk factors for hypertension. METHODS: A population-based, cross-sectional study in the Xinjiang pasture area was performed which included 2251 participants aged over 30 years (90.33% participation rate) of whom 71.26% were Kazaks. Several risk factors were considered: hypertension (defined as systolic or diastolic blood pressure or both of at least 140/90 mmHg measured on one occasion or treatment for hypertension) overweight/obesity (body mass index > or = 25 kg/m2) alcohol intake, smoking/tobacco use and dyslipidemia. Outcomes were prevalence of hypertension, obesity and dyslipidemia and the associated risk factors of hypertension detected by multivariate logistic regression analysis taking into account various metabolic and lifestyle characteristics. RESULTS: The prevalence of hypertension, overweight/obesity and dyslipidemia in all participants from the pasture area of Xinjiang was 51.9%, 47.9% and 49.2% respectively. Independently, the prevalence and awareness of hypertension was 52.6% and 15.3% among Kazaks (n = 1604), 54.6% and 14.1% among Uygurs (n = 418), 39.5% and 16.1% among Mongolians (n = 81) and 43.9% and 18.2% among non-Xinjiang-born Han immigrants (n = 148). The prevalence of overweight/obesity in Kazaks, Uygurs, Mongolians and Han immigrants was 46.7%, 48.9%, 62.5% and 50.3%, respectively. The prevalence of dyslipidemia in the four ethnic groups mentioned was 53.5%, 34.8%, 49.3% and 47.3%, respectively. The mean blood pressure in all participants was 136/86 mmHg (pre-hypertensive), the mean BMI was 24.7 kg/m2. Based on multiple logistic regression analysis, the significant risk factors for hypertension were age [1.07(1.06-1.09), P < 0.0001], overweight/obesity [overweight: 1.61(1.22-2.13), p = 0.0007; obesity: 1.95 (1.33-2.87), p = 0.0007], hypercholesterolemia [1.30(1.15-1.47), p < 0.0001] and an alcohol intake of over 30 g/day [2.22(1.43-3.45), p = 0.0004]. CONCLUSIONS: The considerably high prevalence of hypertension, overweight/obesity and dyslipidemia among the minority population aged over 30 from the pasture area of Xinjiang calls for effective preventive measures. Age, increased body mass index, hypercholesterolemia and > or =30 g/d alcohol intake can be counted as risk factors for hypertension, but further genetic or environmental clarification would be desirable to explain the unusually high prevalence of the conditions mentioned above.

[Distribution of genetic variation of neural precursor cell expressed developmentally down-regulated 4 gene in Kazak Chinese and its association with hypertension].

OBJECTIVE: To analyze the association between the genetic variations of functional region in neural precursor cell expressed developmentally down-regulated 4 ( NEDD4) gene and hypertension in Kazak Chinese in Xinjiang Uygur Autonomous Region. METHODS: The sequences of NEDD4 gene functional region (all exons, exon-intron boundaries, and the putative promoter region, including the 5'- and 3'-untranslated regions 1 kb) were sequenced in Kazak Chinese patients with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 938 Kazak individuals, including 451 hypertensive patients and 487 normotensive subjects. The association between genetic variations of NEDD4 and hypertension in Kazak was analyzed. RESULTS: Thirteen novel and 15 known single nucleotide polymorphism (SNPs) or mutations, including 7 missense mutations, were identified at the function region of NEDD4 gene in 94 Kazak patients with hypertension. In the nine representative variations genotyped, 4 rare missense mutations [77291T>G (S189R), 77748 C>T (R342W), 123925C>T (P152L), rs1912403 (76821A>G, M33V)] were not specific for the prevalence of hypertension; in addition, the distribution of 5 common SNPs [77943A>C (N407H), rs2303580 (132882G>A, R607Q), rs8028559 (154845T>C), rs7162435 (164420A>G), and rs11550869 (165622C>G)] and haplotypes were not significantly different between the hypertensive patients and normotensive subjects (P>0.05). CONCLUSION: The NEDD4 gene polymorphisms is no associated with hypertension in Kazak Chinese population.