Evaluating the effectiveness of a new student-centred laboratory training strategy in clinical biochemistry teaching.

BACKGROUND: The error-proneness in the preanalytical and postanalytical stages is higher than that in the analytical stage of the total testing process. However, preanalytical and postanalytical quality management has not received enough attention in medical laboratory education and tests in clinical biochemistry courses. METHODS/APPROACH: Clinical biochemistry teaching program aim to improve students' awareness and ability of quality management according to international organization for standardization 15,189 requirements. We designed a student-centred laboratory training program, according to case-based learning that included 4 stages: "establish an overall testing process based on the patient's clinical indicator, clarify principles, improve operational skills, and review process and continuous improvement". The program was implemented in our college during the winter semesters of 2019 and 2020. A total of 185 undergraduate students majoring in medical laboratory science participated in the program as a test group, and the other 172 students were set up as the control group and adopted the conventional method. The participants were asked to finish an online survey to evaluate the class at the end. RESULTS/OUTCOMES: The test group had significantly better examination scores not only in experimental operational skills (89.27 ± 7.16 vs. 77.51 ± 4.72, p < 0.05 in 2019 grade, 90.31 ± 5.35 vs. 72.87 ± 8.41 in 2020 grade) but also in total examination (83.47 ± 6.16 vs. 68.90 ± 5.86 in 2019 grade, 82.42 ± 5.72 vs. 69.55 ± 7.54 in 2020 grade) than the control group. The results of the questionnaire survey revealed that the students in the test group better achieved classroom goals than those in the control group (all p < 0.05). CONCLUSIONS: The new student-centred laboratory training program based on case-based learning in clinical biochemistry is an effective and acceptable strategy compared with the conventional training program.

Association of the MMP-9 polymorphism and ischemic stroke risk in southern Chinese Han population.

BACKGROUND: Stroke is a serious cardiovascular disease and is also the leading cause of long-term disability in developing and developed countries. Because matrix metalloproteinase-9 (MMP-9) is associated with the risk of many cardiovascular diseases, we investigated the relationship between single nucleotide polymorphisms (SNPs) in MMP-9 and the risk of Ischemic stroke (IS) in a southern Chinese Han population. METHODS: This study included 250 stroke patients and 250 healthy controls. Genotyping was performed using the Agena MassARRAY system, and chi-squared tests and genetic models were used to evaluate the associations between MMP-9 SNPs and the risk of IS. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusted for age. RESULTS: Polymorphism rs3787268 was associated with increased the risk of IS. Specifically, the genotype "G/A" significantly correlated with IS risk in the co-dominant model [odds ratio (OR) = 1.62; 95% confidence interval (CI) = 1.10-2.41; p = 0.035)], while genotypes "G/A" and "A/A" may increase the risk of IS based on the dominant model (OR = 1.62; 95% CI = 1.12-2.35; p = 0.0097). This SNP was also significantly associated with IS risk in the log-additive model (OR = 1.33; 95% CI = 1.03-1.70; p = 0.026). Conversely, haplotype "C/G" appears to reduce the risk of IS (OR = 0.71; 95% CI = 0.54-0.95; p = 0.019). CONCLUSIONS: Our study showed that the rs3787268 locus in the MMP-9 gene may increase risk of IS in a southern Chinese Han population and thus provide insight into the IS pathogenesis.

TIMP3 gene polymorphisms and relation to Ankylosing spondylitis susceptibility in Chinese Han population.

BACKGROUND: Ankylosing spondylitis (AS) is a type of chronic progressive inflammatory disease, which often causes significant damage to the patients on the physical function, labour ability and quality of life. The study found that the enzyme system tissue inhibitor of matrix metalloproteinases (TIMPs) was important for the development of AS. The aim of this study was to investigate the association of polymorphisms of TIMP3 gene with AS in Chinese Han population. METHODS: To evaluate the correlation of TIMP3 polymorphisms with AS risk, Agena MassARRAY was used to determine the genotypes of 268 AS patients and 654 controls. The correlation between TIMP3 variants and AS risk was examined by unconditional logistic regression analysis. Haplotype construction and analysis in TIMP3 were also applied to detect the potential association. RESULTS: We identified that rs11547635 in the TIMP3 gene (odds ratio[OR] = 0.79, 95% confidence intervals [CI]: 0.63-0.98, p = .029) was significantly associated with a decreased risk of AS in the alleles model. Rs715572 AG genotype (OR = 1.57, 95% CI: 1.05-2.34, p = .041) was potentially associated with an increased risk of AS, and also rs715572 in the dominant model (OR = 1.61, 95% CI: 1.10-2.36, p = .013) and log-additive model (OR = 1.41, 95% CI: 1.07-1.86, p = .016) adjusted by age and gender were significantly correlated with an increased AS risk. CONCLUSION: These findings suggested that polymorphisms of the TIMP3 gene may be associated with susceptibility to AS.

The effects of gene polymorphisms on glioma prognosis.

BACKGROUND: Malignant gliomas are the most common primary brain tumors. Various genetic factors play important roles in the development and prognosis of glioma. The present study focuses on the impact of MPHOSPH6, TNIP1 and several other genes (ACYP2, NAF1, TERC, TERT, OBFC1, ZNF208 and RTEL1) on telomere length and how this affects the prognosis of glioma. METHODS: Forty-three polymorphisms in nine genes from 605 glioma patients were selected. The association between genotype and survival outcome was analyzed using the Kaplan-Meier method, Cox regression analysis and the log-rank test. RESULTS: The 1-year overall survival (OS) rates of patients younger than 40 years of age was higher compared to those in patients older than 40 years of age. The 1-year OS rate of patients who underwent total resection was higher than that of patients whose gliomas were not completely resected. The 1-year OS rates of patients undergoing chemotherapy and of patients who did not undergo chemotherapy were 39.90% and 26.80%, respectively. Univariate analyses showed that ACYP2 rs12615793 and TERT rs2853676 loci affected progression-free survival in glioma patients; both ZNF208 rs8105767 and ACYP2 rs843720 affected the OS of patients with low-grade gliomas. Multivariate analyses suggested that MPHOSPH6 rs1056629 and rs1056654, and TERT rs2853676 loci were associated with good prognoses of patients with glioma or high-grade gliomas, whereas ZNF208 rs8105767 was associated with good prognosis of patients with low-grade glioma. CONCLUSIONS: Age, surgical resection and chemotherapy influenced the survival rates of glioma patients. TERT, MPHOSPH6, ACYP2 and ZNF208 genes were found to affect glioma prognosis.

Association of ARHGAP22 gene polymorphisms with the risk of type 2 diabetic retinopathy.

BACKGROUND: Little is known about the contribution of ARHGAP22 polymorphism to diabetic retinopathy (DR) risk. We performed a case-control study to investigate the associations between ARHGAP22 and the risk of DR in a Chinese Han population. METHODS: A total of 341 patients with type 2 diabetes mellitus (T2DM) were selected. All patients underwent a complete eye examination. Based on this, the patients with T2DM were divided into two subgroups: 188 patients with DR and 153 patients without DR. Five single nucleotide polymorphism (SNPs) were selected and genotyped using the MassARRAY method (Sequenom, San Diego, CA, USA). The odds ratio (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusted for age and sex. RESULTS: Two susceptibility SNPs in ARHGAP22 were found to be associated with an increased risk of DR both before and after the adjustment: rs10491034 under the dominant model (adjusted OR = 0.51, 95% CI = 0.27-0.95, p = 0.032) and additive model (adjusted OR = 0.47, 95% CI = 0.26-0.84, p = 0.0098) and rs3844492 under the codominant model (adjusted OR = 3.14, 95% CI = 1.10-9.01, p = 0.023) and recessive model (adjusted OR = 3.52, 95% CI = 1.26-9.85, p = 0.011). CONCLUSIONS: Our findings reveal a significant association between SNPs in the ARHGAP22 gene and DR risk in a Han Chinese population.

Polymorphisms of the TCF4 gene are associated with the risk of schizophrenia in the Han Chinese.

Schizophrenia (SCZ) is a complex and severe mental disorder with highly heritability (80%). Several large genome-wide association studies have identified that the transcription factor 4 (TCF4) polymorphisms were strongly associated with SCZ. Therefore, the present study was to replicate the potential relationships between the TCF4 polymorphisms and SCZ. Furthermore, the study also investigated whether other variants were associated with SCZ in the Han Chinese. We conducted a case-control study including 499 patients and 500 healthy controls. Five SNPs were successfully genotyped and evaluated the association with SCZ by using χ2 test and genetic model analysis. We found that the genotype "AG" of rs9320010 and "GA" of rs7235757 decreased SCZ risk (OR = 0.70, 95%CI = 0.50-0.99, P = 0.041; OR = 0.69, 95%CI = 0.49-0.97, P = 0.034, respectively). In the genetic model analysis, we also observed that the allele "A" of rs9320010 and "G" of rs7235757 were inversely related with the risk of SCZ in the dominant model (OR = 0.72, 95%CI = 0.52-0.98, P = 0.039; OR = 0.69, 95%CI = 0.50-0.96, P = 0.025, respectively). Further interaction and stratification analysis suggested that rs1452787 was notably correlated with increased SCZ risk in males (OR = 2.77, 95%CI = 1.43-5.35, P = 0.002). Our study indicated that rs9320010, rs7235757, and rs1452787 were prominently associated with SCZ. Further studies are required to verify our findings and focus on determining the biological functions of the SNPs. © 2016 Wiley Periodicals, Inc.

A Review of Energy Supply for Biomachine Hybrid Robots.

Biomachine hybrid robots have been proposed for important scenarios, such as wilderness rescue, ecological monitoring, and hazardous area surveying. The energy supply unit used to power the control backpack carried by these robots determines their future development and practical application. Current energy supply devices for control backpacks are mainly chemical batteries. To achieve self-powered devices, researchers have developed solar energy, bioenergy, biothermal energy, and biovibration energy harvesters. This review provides an overview of research in the development of chemical batteries and self-powered devices for biomachine hybrid robots. Various batteries for different biocarriers and the entry points for the design of self-powered devices are outlined in detail. Finally, an overview of the future challenges and possible directions for the development of energy supply devices used to biomachine hybrid robots is provided.

Recent Advances in Biomass-Derived Carbon Materials for Sodium-Ion Energy Storage Devices.

Compared with currently prevailing Li-ion technologies, sodium-ion energy storage devices play a supremely important role in grid-scale storage due to the advantages of rich abundance and low cost of sodium resources. As one of the crucial components of the sodium-ion battery and sodium-ion capacitor, electrode materials based on biomass-derived carbons have attracted enormous attention in the past few years owing to their excellent performance, inherent structural advantages, cost-effectiveness, renewability, etc. Here, a systematic summary of recent progress on various biomass-derived carbons used for sodium-ion energy storage (e.g., sodium-ion storage principle, the classification of bio-microstructure) is presented. Current research on the design principles of the structure and composition of biomass-derived carbons for improving sodium-ion storage will be highlighted. The prospects and challenges related to this will also be discussed. This review attempts to present a comprehensive account of the recent progress and design principle of biomass-derived carbons as sodium-ion storage materials and provide guidance in future rational tailoring of biomass-derived carbons.

Aqueous hybrid electrochemical capacitors with ultra-high energy density approaching for thousand-volts alternating current line filtering.

Filtering capacitors with wide operating voltage range are essential for smoothing ripples in line-powered system, which are still unsatisfactory due to low energy density and limited working voltage scopes. Herein, we report an aqueous hybrid electrochemical capacitor with areal specific energy density of 1.29 mF V2 cm-2 at 120 Hz, greater than common aqueous ones. Interestingly, it can be easily integrated at scale to show excellent flexibility, controllable and stable filtering performance, in which an integrated device (e.g., seven units in series) exhibits fluctuation of 96 mV, 10 times smaller than an aluminum electrolytic capacitor with similar capacitance. A record-high 1,000 V can also be achieved after integrating 670 units, exceeding those reported so far, and about 1.5 times of commercial bulk aluminum electrolytic capacitors (~700 V). This work opens up a new insight for promising applications in multiple electricity transmission systems that requiring high smoothness under harsh voltage.

LncRNA FOXD3-AS1 Mediates AKT Pathway to Promote Growth and Invasion in Hepatocellular Carcinoma Through Regulating RICTOR.

Background: Hepatocellular carcinoma (HCC) has high morbidity and mortality, but current therapeutic methods cannot effectively improve patient's prognosis. FOXD3-AS1, a new identified long noncoding RNA, is dysregulated in several cancers and functions as a carcinogenic or tumor-suppressor factor. However, the function of FOXD3-AS1 in HCC has not been reported. Materials and Methods: Quantitative real time-polymerase chain reaction was applied to evaluate the expression of FOXD3-AS1 in HCC tissues and cell lines. miRDB and TargetScan websites were utilized to predict the interaction network of FOXD3-AS1 as a competing endogenous RNA. The interaction was confirmed by luciferase reporter assay and RNA binding protein immunoprecipitation (RIP) assay. The effect of FOXD3-AS1 on HCC cells (Huh6) were measured by cell counting kit (CCK)-8, BrdU cell proliferation assay, Transwell invasion assay, and wound healing assay. Results: FOXD3-AS1 was overexpressed in HCC, and HCC patients with the high level of FOXD3-AS1 had a poor prognosis. In addition, FOXD3-AS1 knockdown considerably inhibited the proliferation, migration, and invasion of Huh6 cells. Besides, FOXD3-AS1 functioned as a sponge of miR-335, and RICTOR was a direct target gene of miR-335. Furthermore, FOXD3-AS1 could enhance the level of RICTOR through sponging miR-335. Moreover, the knockdown of FOXD3-AS1 could competitively bind with miR-335 to suppress RICTOR expression, thereby inhibiting the growth of Huh6 cells through the deactivation of AKT signaling pathway. Conclusions: FOXD3-AS1 is crucial for the tumorigenesis and progression of HCC. The interaction among FOXD3-AS1, miR-335, and RICTOR provides a novel insight for understanding the molecular mechanism of HCC, and FOXD3-AS1, miR-335, and RICTOR can be regarded as the potential targets for HCC treatment.

Association between IL-4 tagging single nucleotide polymorphisms and the risk of lung cancer in China.

BACKGROUND: In China, lung cancer is also the most commonly diagnosed cancer with a lower 5-year survival rate, leading to high social burdens. Recently, many studies highlighted the importance of inflammation in the initiation and progression of cancer. The goal of this study was to investigate the association between interleukin-4 (IL-4, OMIM#147780) single nucleotide polymorphisms (SNPs) and lung cancer susceptibility. METHODS: A case-control study was conducted in a Chinese population including 199 male patients with lung cancer and 266 healthy men. Six SNPs selected from the HapMap database were genotyped using Agena MassARRAY. Genetic models and haplotype analyses were utilized to evaluate the association between SNPs and lung cancer risk. RESULTS: In our findings, rs2243250 was associated with a decreased lung cancer risk under the log-additive model (odds ratio, OR = 0.71, 95% confidence interval, CI = 0.51-0.97, p = 0.030), and the G/G genotype of rs2227284 conferred a negative effect; the risk of lung cancer under the codominant (OR = 0.19, 95% CI = 0.04-0.87, p = 0.040) and recessive models (OR = 0.20, 95% CI = 0.04-0.88, p = 0.012) after adjusted by age. CONCLUSIONS: These data indicated potential associations between IL-4 polymorphisms and lung cancer susceptibility. That may help to improve the understanding of the relationship between inflammation and lung cancer in the future.

The impact of genetic variants in IL1R2 on cervical cancer risk among Uygur females from China: A case-control study.

BACKGROUND: Disordered inflammation and immune response is an acknowledged risk factor for cervical cancer development. Interleukin-1 receptor type 2 (IL1R2) is a decoy receptor for IL-1 cytokines and involved in host inflammatory and immune progression which could lead to the lesion and neoplasia of cervix. In this study, we aimed to evaluate the relationships between IL1R2 polymorphisms and cervical cancer risk in Uygur females from China. METHODS: In this case-control study, genotypes of six selected variants (rs11674595, rs4851527, rs719250, rs3218896, rs3218977, and rs2072472) distributed in IL1R2 were detected among 247 cervical cancer patients and 286 healthy controls with the usage of an Agena MassARRY method. Furthermore, Genetic models and haplotype analyses were conducted to estimate the associations of IL1R2 polymorphisms with cervical cancer risk. RESULTS: After statistical analyses, rs719250 (odd ratio [OR] = 1.436, 95% confidence interval [95% CI] = 1.079-1.911, p = 0.013) and rs3218896 (OR = 1.552, 95% CI = 1.080-2.229, p = 0.017) showed obvious evidence in correlation to cervical cancer susceptibility owing to the surviving significant differences between cases and controls in allele model. Genetic model analyses also revealed significant associations of rs719250 and rs3218896 with cervical cancer risk in the codominant model, the dominant model and the log-additive model even after adjustment for age (p < 0.05). Moreover, haplotype "T/A" of rs11674595/rs4851527 (adjusted OR = 0.73, 95% CI = 0.54-0.98, p = 0.037) and "T/C" of rs719250/rs3218896 (adjusted OR = 1.61, 95% CI = 1.10-2.36, p = 0.015) exhibited protective and risky effects for Uygur individuals on cervical cancer development, respectively. CONCLUSION: Our data first shed the new light on the associations of IL1R2 polymorphisms with cervical cancer susceptibility among Uygur females. These results are supposed to facilitate the tumorigenesis genetic research among Chinese minorities.

Assessment of the association between ACYP2 and laryngeal squamous cell carcinoma risk in Chinese males.

BACKGROUND: Laryngeal squamous cell carcinoma (LSCC) is one of the most prevalent malignant neoplasms of the upper respiratory tract. Studies have confirmed that an unstable chromosome constitution promotes the progress of laryngeal tumorigenesis, and ACYP2 has been confirmed as a telomere length-related gene. However, to date, the association between ACYP2 polymorphisms and LSCC susceptibility has not been investigated. METHODS: We performed this study to explore the effect of 11 single-nucleotide polymorphisms (SNPs) in ACYP2 on LSCC susceptibility in Chinese Han males. Unconditional logistic regression analysis adjusted for age was used to calculate the odds ratios and 95% confidence intervals. RESULTS: Based on allele and genotype models, our results showed that rs1682111 variant was significantly associated with a decreased LSCC susceptibility (p < 0.05). On the contrary, polymorphisms of rs10439478, rs11125529, rs12615793, rs843711, rs11896604, and rs17045754 were significantly associated with an increased LSCC risk (p < 0.05). The results of haplotype analysis indicated that haplotypes "TTCTCG" and "TTCTAA" in block 1 and "TG" in block 2 showed a risk factor for the development of LCSS (p = 0.009, p < 0.001, and p = 0.001, respectively). The results of Genotype-Tissue Expression analysis indicate that these significant SNPs were known to be associated with ACYP2 expression. CONCLUSION: Our data demonstrated that ACYP2 polymorphisms may exert effects on LSCC susceptibility in Chinese Han males.

Matrix metalloproteinase-2 gene polymorphisms are associated with ischemic stroke in a Hainan population.

Ischemic stroke is a complex vascular disease, which has become 1 of the major causes of morbidity and mortality worldwide. More and more data showed that matrix metalloproteinases (MMPs), in particular, MMP-2 are deleterious after ischaemic stroke. This study investigated the relationship between MMP-2 and stroke risk in the Southern Chinese population.We evaluated single nucleotide polymorphisms (SNP) of MMP-2 in stroke patients in an association study using a case-control design. Six SNPs of MMP2 were selected and genotyped by Agena MassARRAY. SNPStats, Haploview was used to analyze genetic data.Two SNPs in the MMP-2 gene were significantly associated with stroke risk.For rs1132896 (C versus G allele), the C allele was significantly reduced stroke risk (OR = 0.56, 95% confidence intervals [95% CI] = 0.39-0.81, P = .002). The effect of the T allele of rs243849 was IS risk according to an additive genetic model (OR = 0.67, 95% CI = 0.47-0.96, P = .028). We did not found any strong linkage between the six SNPs (rs1132896, rs1053605, rs243849, rs243847, rs243832, rs7201)The results presented strongly indicate that MMP-2 genetic variants are an important mediator of stroke risk.

Study on body composition and its correlation with obesity: A Cohort Study in 5121 Chinese Han participants.

Rare reports can be found about sex- and age-specific body composition survey among Chinese population. The aim of this study is to explore the change of body composition with aging in Chinese males and females respectively.The present cross-sectional study was carried out in Central South University Xiangya School of Medicine Affiliate Haikou Hospital, on a random sample consisting of 5121 participants. Inbody720 body composition analyzer was used to detect the human body composition. Data collection was based on the assessment of anthropometric body composition measurements done with the help of bioelectric impedance. And the data were analyzed with SPSS19.0.We selected 5121 participants, 3276 males and 1845 females. A significant trend (P < 0.05) for all anthropometric indices was observed with age for both genders. Body fat in men and women were 18.33 kg and 19.82 kg, respectively. Body fat percentage in men and women were 25.74% and 34.01%, respectively. Visceral fat area in men and women were 91.98 cm and 77 cm, respectively And, with the increase of age, body fat, body fat percentages and visceral fat area also increased, both in men and in women. Meanwhile, with the increase of BMI, the body fat, body fat percentages, and visceral fat area also increased, both in men and in women.Significant trends were observed for body fat, body fat percentages and visceral fat area for both genders with age and both genders with BMI. Focusing on obesity-related lifestyle and prevent weight gain.

Polymorphisms of drug-metabolizing enzyme CYP2E1 in Chinese Uygur population.

Pharmacogenetics is the genetic basis of pharmacokinetics, genetic testing, and clinical management in diseases. Evaluation about genetic alterations of drug metabolizing enzymes in human genome contributes toward understanding the interindividual and interethnic variability for clinical response to potential toxicants. CYP2E1 gene encodes a drug-metabolizing enzyme that metabolizes mostly small, polar molecules, including toxic laboratory chemicals. The aim of this study was to investigate CYP2E1 polymorphisms and gene profile in a Chinese Uygur population. Frequencies for the CYP2E1 mutated alleles and genotypes were screened in 100 unrelated random healthy Uygur volunteers. PCR and direct sequencing revealed a total of 32 polymorphisms, of which 5 novel mutations were presented. Rs 943975 was the most common single nucleotide polymorphism (SNP). The allele frequencies of CYP2E11A, 4, 7A, and 7C were 65.5, 2, 19.5, and 13%, respectively. The most common genotype combinations were CYP2C191A/1A (43%) and 1A/7C (24%). Functional prediction for 2 nonsynonymous mutations G173S and V179I was performed using MutationTaster, sorting intolerant from tolerant, and PolyPhen-2. The observations of the present study give rise to useful information on CYP2E1 polymorphisms in Chinese Uygur individuals. The results suggest important clinical implications for the use of medications metabolized by CYP2E1 among Uygurs.

Genetic polymorphisms of pharmacogenomic VIP variants in the Yi population from China.

INTRODUCTION: Drug response and target therapeutic dosage are different among individuals. The variability is largely genetically determined. With the development of pharmacogenetics and pharmacogenomics, widespread research have provided us a wealth of information on drug-related genetic polymorphisms, and the very important pharmacogenetic (VIP) variants have been identified for the major populations around the world whereas less is known regarding minorities in China, including the Yi ethnic group. Our research aims to screen the potential genetic variants in Yi population on pharmacogenomics and provide a theoretical basis for future medication guidance. MATERIALS AND METHODS: In the present study, 80 VIP variants (selected from the PharmGKB database) were genotyped in 100 unrelated and healthy Yi adults recruited for our research. Through statistical analysis, we made a comparison between the Yi and other 11 populations listed in the HapMap database for significant SNPs detection. Two specific SNPs were subsequently enrolled in an observation on global allele distribution with the frequencies downloaded from ALlele FREquency Database. Moreover, F-statistics (Fst), genetic structure and phylogenetic tree analyses were conducted for determination of genetic similarity between the 12 ethnic groups. RESULTS: Using the χ2 tests, rs1128503 (ABCB1), rs7294 (VKORC1), rs9934438 (VKORC1), rs1540339 (VDR) and rs689466 (PTGS2) were identified as the significantly different loci for further analysis. The global allele distribution revealed that the allele "A" of rs1540339 and rs9934438 were more frequent in Yi people, which was consistent with the most populations in East Asia. F-statistics (Fst), genetic structure and phylogenetic tree analyses demonstrated that the Yi and CHD shared a closest relationship on their genetic backgrounds. Additionally, Yi was considered similar to the Han people from Shaanxi province among the domestic ethnic populations in China. CONCLUSIONS: Our results demonstrated significant differences on several polymorphic SNPs and supplement the pharmacogenomic information for the Yi population, which could provide new strategies for optimizing clinical medication in accordance with the genetic determinants of drug toxicity and efficacy.

Genetic polymorphisms in very important pharmacogenomic variants in the Zhuang ethnic group of Southwestern China: A cohort study in the Zhuang population.

Pharmacogenomics, the study of the role of genetics in drug response, has recently become a focal point of research. Previous studies showed that genes associated with drug detoxification vary among different populations. However, pharmacogenomic information of the Zhuang ethnic group is scarce. The aim of the present study was to screen members of the Zhuang ethnicity in southwestern China for genotype frequencies of very important pharmacogenomic (VIP) variants and to determine the differences between the Zhuang ethnicity and other human populations.We genotyped 80 variants of VIP genes in 100 unrelated healthy Zhuang adults from the Yunnan province of China. Next, we analyzed the genotyping data with Structure and F-statistics (Fst).We compared our data with those of other populations using the HapMap data set, and observed that the frequency distribution of Zhuang population in Yunnan closely resembles that of JPT. Furthermore, population structure and Fst analysis showed that the Zhuang population is closely related to the Shaanxi Han population with respect to genetic background.Our study supplements existing information on Zhuang population pharmacogenomics and provides an extensive overview for developing personalized medicine.

Association between TNIP1, MPHOSPH6 and ZNF208 genetic polymorphisms and the coronary artery disease risk in Chinese Han population.

INTRODUCTION: Coronary artery disease (CAD) is a common disease and among the leading cause of death in the general population. Inherited factors are involved in the pathogenesis of CAD. AIMS: Our study examined whether SNPs in TNIP1, MPHOSPH6, ZNF208 to be associated with CAD risk in a Chinese Han population. We recruited 596 CAD patients, 603 controls and genotyping fifteen SNPs using Sequenom MassARRAY. For association analysis between TNIP1, MPHOSPH6 and ZNF208 and CAD was determined by Odds ratios (ORs) with 95% confidence intervals (CIs) using Logistic Regression. RESULTS: The results indicated in allel model, the rs960709 in TNIP1 was associated with CAD risk (OR = 0.78, 95%CI = 0.65-0.94, P=0.010). The genetic model results showed that the rs960709 (A/G) polymorphism was associated with the risk of developing CAD in codominant, Dominant and Log-additive. The rs1056654 A/A allele and CAD patients compared to the healthy controls in recessive model (OR = 0.55, 95%CI = 0.34-0.90; P = 0.018). We also found that three SNPS in ZNF208 associated with CAD, respectively, rs2188971, rs8103163 and rs7248488.Linkage disequilibrium (LD) and haplotype analyses of the SNPs found that the CTA haplotype (rs1056675, rs1056654, rs11859599) and rs2188972A/rs2188971T/rs8103163A/rs7248488A (ATAA) were associated with CAD. CONCLUSION: In conclusion, the present study provided evidence that SNPs in the TNIP1, ZNF208 and MPHOSPH6 were associated with CAD in Chinese Han population. It is possible that these SNPs are CAD risk factors and these data can provide.

Polymorphisms of telomere-length related genes in three China ethnic groups.

Little is known about polymorphic distribution of telomere-length related genes among ethnicities, which play important roles in the progression of high-altitude pulmonary edema (HAPE). We genotyped 45 single nucleotide polymorphism (SNP) in 300 unrelated healthy volunteers from the following three Chinese ethnic populations: Han (n = 100), Tibetan (n = 100) and Sherpa (n = 100). We used χ2 test, pairwise FST values, and structure clustering analyses to investigate the genetic differences between these populations. Our results first indicated that rs12615793 (ACYP2), rs10936599 (TERC), rs10069690 (TERT) and rs6010620, rs4809324 (RTEL1) showed the greatest number of significant differences between Han and Tibetan, Sherpa and 11 HapMap populations. Meanwhile, we found that rs1056654 and rs1056629 (MPHOSPH6), rs2320615 (NAF1), rs6010621 (RTEL1), rs8105767 and rs2188972 (ZNF208) genotype frequencies showed considerable divergence among Tibetan and Sherpa. Besides, pairwise FST values and structure clustering analyses revealed that Han exhibited a close genetic affinity with CHD and CHB, but revealed a great genetic heterogeneity with YRI and MKK. This work greatly expanded our understanding of the distribution of telomere-length related genes in Chinese populations and may be helpful to forensic applications and population genetic studies.