Double-blinded, randomized clinical trial of Gegen Qinlian decoction pinpoints Faecalibacterium as key gut bacteria in alleviating hyperglycemia.

Background: Accumulating evidence suggests that metabolic disorders, including type 2 diabetes mellitus (T2DM), can be treated with traditional Chinese medicine formulas, such as the Gegen Qinlian decoction (GQD). This study elucidates the mechanisms by which gut microbes mediate the anti-diabetic effects of GQD. Methods: We conducted a double-blind randomized clinical trial involving 120 untreated participants with T2DM. During the 12-week intervention, anthropometric measurements and diabetic traits were recorded every 4 weeks. Fecal microbiota and serum metabolites were measured before and after the intervention using 16S rDNA sequencing, liquid chromatography-mass spectrometry, and Bio-Plex panels. Results: Anti-diabetic effects were observed in the GQD group in the human trial. Specifically, glycated hemoglobin, fasting plasma glucose, and two-hour postprandial blood glucose levels were significantly lower in the GQD group than in the placebo group. Additionally, Faecalibacterium was significantly enriched in the GQD group, and the short-chain fatty acid levels were higher and the serum inflammation-associated marker levels were lower in the GQD group compared to the placebo group. Moreover, Faecalibacterium abundance negatively correlated with the levels of serum hemoglobin, fasting plasma glucose, and pro-inflammatory cytokines. Finally, the diabetes-alleviating effect of Faecalibacterium was confirmed by oral administration of Faecalibacterium prausnitzii (DSMZ 17677) in T2DM mouse model. Conclusions: GQD improved type 2 diabetes primarily by modulating the abundance of Faecalibacterium in the gut microbiota, alleviating metabolic disorders and the inflammatory state. Trial registration: Registry No. ChiCTR-IOR-15006626.

Distribution, Risk Assessment and Source of Heavy Metals in Mangrove Wetland Sediments of Dongzhai Harbor, South China.

Heavy metals are common environmental contaminants that are toxic, non-biodegradable, and bioaccumulative. They can bioaccumulate through the food chain and present a risk to both public health and ecology. Therefore, this study takes the mangrove wetland of Dongzhai Harbor as an example. The concentrations of heavy metals such as As, Cd, Cr, Cu, Ni, Pb, and Zn in the surface sediments of mangrove wetlands were measured to reveal their distribution, the contamination level was assessed, and the sources of contamination were analyzed. The distribution of Cr, Zn, Ni, Pb, Cu, and Cd concentrations are: Yanfeng East River > Sanjiang River > Yanzhou River > Yanfeng West River, while the As concentration in the Yanfeng West River is greater than that in the Yanfeng East River. According to the correlation analysis, the concentrations of Cr, Zn, Ni, Cu, and Cd are significantly and positively correlated with total organic carbon (TOC), total phosphorus (TP), total nitrogen (TN), and salinity (SAL) and shared a significantly negative correlation with pH. There is moderate contamination risk of As and slight contamination risk of Cd, Cr, Cu, Ni, Pb, and Zn in most regions within the study area. Cd, Cr, Cu, Ni, Pb, and Zn exhibit the same sources, which are mainly influenced by human sources such as aquaculture, agricultural cultivation, and livestock farming, while the source of As comes from aquaculture.

The effects of rainfall on groundwater hydrogeochemistry and chemical weathering.

Due to the special hydrogeological conditions in karst areas, groundwater responds quickly to rainfall. The covariation of ion concentrations and spring discharge can help better understand the hydrogeochemical process of groundwater occurring in the heterogeneous karst aquifers. In this study, high-resolution monitoring of groundwater discharge, hydrochemistry, and stable isotopes was conducted at the Qingjiangyuan (QJY), a spring of the Qingjiang watershed in Hubei, China. The purpose is to investigate the changes in hydrogeochemical processes and chemical weathering under the influence of rainfall. The dynamics of spring discharge indicate the presence of pipelines and fissures of different sizes. According to the spring discharge attenuation curves, there are at least three medium types in the aquifer, which account for 45.7%, 34.2%, and 20.1% of the total groundwater. Pearson correlation analysis shows that the main sources of the solute in the QJY are carbonate minerals (mainly calcite and dolomite), evaporites (mainly gypsum and sylvite), celestite, and strontianite. Anthropogenic activities have less impact on groundwater solutes. Although carbonate minerals dominate the hydrochemistry, the changes in hydrogeochemical behavior caused by rainfall may come from gypsum, which is supported by the ion concentrations. At the early rainfall stage, Ca2+ concentration increased from 42.9 to 45.6 mg/L, followed by the SO42- from 15.2 to 16.6 mg/L. When the discharge increased to the maximum (2320 L/s), Ca2+ and SO42- showed opposite trends, decreased to 39.7 mg/L and 10.4 mg/L, respectively. The results also suggest that carbonate rocks and evaporites have important roles in hydrochemistry. The contributions of these three end-members were quantified based on the law of mass conservation. The proportions of carbonate weathering and evaporite weathering were 83.4% (85.2-80.3%) and 11.6% (6.9-18.0%), respectively, and rain was 5.0% (0.1-10.4%). These results were integrated into a hydrogeological conceptual model that explains the hydrogeochemical processes, including rock weathering, piston, and dilution effects caused by rainfall. The proposed conceptual model helps to improve the understanding of hydrogeochemical processes and chemical weathering in karst areas.

A Follow-Up Study of Ovarian Cancer (OOPS): A Study Protocol.

The ovarian cancer (OC) follow-up study (OOPS) is an on-going hospital-based large prospective longitudinal cohort study aimed to explore the relationship between pre/post-diagnostic biological, clinical, environmental, and lifestyle factors with focus on the diet and OC prognosis (including drug resistance, relapse, and mortality). Patients recruited during the baseline survey were between 18 and 79 years old, with histologically confirmed OC diagnosis. Their follow-up and medical treatment were conducted at the gynecological oncology ward at Shengjing Hospital of China Medical University, Shenyang, China after 2015. A total of 703 OC patients made up the final OOPS study population. The follow-up stage was conducted in both passive and active modes. In the passive mode, the follow-up was performed by linkage to the Liaoning Providence Center for Disease Control and Prevention every 6 months to obtain health outcome results. The status of lifestyle factors was re-estimated using the same measurements as those in the baseline survey. OC participants in the OOPS study completed a questionnaire and anthropometric examinations. In addition, biological specimens were collected during the baseline survey, which included blood, urine, and stool samples that were stored for further use. This article is intended to serve as an introduction to this project and to provide details for investigators who may be carry out related analysis.

Shift work and health outcomes: an umbrella review of systematic reviews and meta-analyses of epidemiological studies.

STUDY OBJECTIVES: Shift work is commonly increasing, and some physiological changes occur as workers sleep less and their circadian rhythms are disrupted. This umbrella review not only summarizes the evidence but also evaluates the validity of the associations of shift work with different health outcomes. METHODS: We searched the MEDLINE, Web of Science, and Embase databases from their inception to April 25, 2020. For each systematic review and/or meta-analysis, we estimated the summary effect size, the 95% confidence interval, the 95% prediction interval, the between-study heterogeneity, evidence of small-study effects, and evidence of excess-significance bias. RESULTS: Eight eligible systematic reviews and meta-analyses were identified, providing data on 16 associations. We observed highly suggestive evidence for associations between shift work and myocardial infarction (having ever vs having never done shift work) and diabetes mellitus incidence (per 5-year increment in shift work). Furthermore, we observed suggestive evidence for an association between shift work and diabetes mellitus incidence (having ever vs having never done shift work). Two health outcomes, including prostate cancer incidence (having ever vs having never done shift work and rotating night shift work vs daytime work) and colorectal cancer incidence (longest vs shortest shift work time), were only supported by weak evidence. CONCLUSIONS: This umbrella review found that shift work was associated with several health outcomes with different levels of evidence. Associations for myocardial infarction and diabetes mellitus incidence were supported by highly suggestive evidence. SYSTEMATIC REVIEW REGISTRATION: Registry: PROSPERO; Identifier: CRD42020188537. CITATION: Wu Q-J, Sun H, Wen Z-Y, et al. Shift work and health outcomes: an umbrella review of systematic reviews and meta-analyses of epidemiological studies. J Clin Sleep Med. 2022;18(2):653-662.

Exploring the pathogenesis of type 2 diabetes mellitus intestinal damp-heat syndrome and the therapeutic effect of Gegen Qinlian Decoction from the perspective of exosomal miRNA.

ETHNOPHARMACOLOGICAL RELEVANCE: Diabetes is a common, complex, chronic metabolic disease. A randomized, double-blind, placebo-parallel controlled clinical study has shown that Gegen Qinlian Decoction (GQD) can reduce glycosylated hemoglobin in type 2 diabetes mellitus (T2DM) intestinal damp-heat syndrome patients in a dose-dependent manner. AIM: To explore the pathogenesis of T2DM intestinal damp-heat syndrome and the therapeutic effect of GQD from the perspective of exosomal microRNA (miRNA). METHODS: Eligible patients were selected and treated with GQD for 3 months to evaluate their clinical efficacy. Effective cases were matched with healthy volunteers, and saliva samples were collected. Exosomal miRNA was extracted from saliva and analyzed by chip sequencing. Subsequently, the function of the differential gene and the signal transduction pathway were analyzed using bioinformatics technology. Finally, three target miRNAs were randomly selected from the T2DM group/healthy group, and two target miRNAs in the T2DM before treatment/after treatment group were randomly selected for qPCR verification. Finally, we conducted a correlation analysis of the miRNAs and clinical indicators. The registration number for this research is ChiCTR-IOR-15006626. RESULTS: (1) The expression of exosomal miRNA chips showed that there were 14 differentially expressed miRNAs in the T2DM group/healthy group, and 26 differentially expressed miRNAs in the T2DM before treatment/after treatment group. (2) Enrichment results showed that in the T2DM group/healthy group, it was primarily related to cell development, body metabolism, TGF-ß, and ErbB signaling pathways. In the T2DM before treatment/after treatment group, it was mainly related to cellular metabolic regulation processes, and insulin, Wnt, and AMPK signaling pathways. (3) The qPCR verification showed that the expressions of hsa-miR-9-5p, hsa-miR-150-5p, and hsa-miR-216b-5p in the T2DM group was higher (P<0.05). Following GQD treatment, hsa-miR-342-3p and hsa-miR-221-3p were significantly downregulated (P<0.05). (4) hsa-miR-9-5p was positively correlated with BMI (P<0.05), and hsa-miR-150-5p was positively correlated with total cholesterol and triglycerides (P<0.05). The GQD efficacy-related gene hsa-miR-342-3p was positively correlated with the patient's initial blood glucose level (P<0.05), and hsa-miR-221-3p was positively correlated with total cholesterol and triglycerides (P<0.05). CONCLUSION: The exosomal miRNA expression profile and signaling pathways related to T2DM intestinal damp-heat syndrome and the efficacy of GQD were established, which provides an alternative strategy for precision traditional Chinese medicine treatment.

Isothiocyanate Iberin inhibits cell proliferation and induces cell apoptosis in the progression of ovarian cancer by mediating ROS accumulation and GPX1 expression.

Ovarian cancer (OC) is one of the most common gynecologic malignancies with poor survival rate, and Iberin is a member of isothiocyanate family with anti-tumor activity. However, the role of Iberin in OC development has not been reported yet. In this study, A2780 and OVCAR-3 cells were treated with gradient concentrations of Iberin to investigate the effect of Iberin on OC in vitro. Meanwhile, the in vivo tumorgenesis experiment was performed using female BALB/c nude mice treated with Iberin. Iberin inhibited cell proliferation, induced G2 cell cycle arrest and promoted cell apoptosis in OC cells. Besides, Iberin reduced GSH/GSSG level, enhanced ROS accumulation, and activated MAPK signaling in OC cells. More interestingly, ROS scavenger (NAC) compensated the anti-proliferative and pro-apoptotic effects of Iberin on OC cells, suggesting the involvement of ROS in the regulation of Iberin on OC cell growth. Notably, Iberin induced down-regulation of glutathione peroxidase-1 (GPX1), and over-expression of GPX1 reversed Iberin-mediated alterations in the proliferation, apoptosis and ROS accumulation of OC cells. The in vivo tumorgenesis study further evidenced the protection of Iberin against OC development. Besides, Iberin displayed a synergistic effect on the enhancement of chemo-sensitivity in OC cells. In summary, our study demonstrates the anti-tumor effect of Iberin on OC and its potential as a therapeutic agent against OC in the future.

Application of machine learning in prediction of Chemotherapy resistant of Ovarian Cancer based on Gut Microbiota.

Background: Ovarian cancer (OC) has the highest mortality among gynecological malignancies, and resistance to chemotherapy drugs is common. We aim to develop a machine learning approach based on gut microbiota to predict the chemotherapy resistance of OC. Methods: The study included patients diagnosed with OC by pathology and treated with platinum and paclitaxel in Shengjing Hospital of China Medical University between 2017 and 2018. Fecal samples were collected from patients, and 16S rRNA sequencing was used to analyze the differences in gut microbiota between OC patients with and without chemotherapy resistance. Nine machine learning classifiers were used to derive the chemotherapy resistance of OC from gut microbiota. Results: A total of 77 chemoresistant OC patients and 97 chemosensitive OC patients were enrolled. The gut microbiota diversity was higher in OC patients with chemotherapy resistance. There were statistically significant differences between the two groups in Shannon indexes (P <0.05) and Simpson indexes (P <0.05). Machine learning techniques can predict the chemoresistance of OC, and the random forest showed the best performance among all models. The area under the ROC curve for RF model was 0.909. Conclusions: The diversity of gut microbiota was higher in OC patients with chemotherapy resistance. Further studies are warranted to validate our findings based on machine learning techniques.

High-throughput sequencing study of the effect of transabdominal hysterectomy on intestinal flora in patients with uterine fibroids.

BACKGROUND: To investigate the effect of transabdominal hysterectomy on the diversity of the intestinal flora in patients with uterine fibroids. Patients with uterine fibroids were selected from September 2018 to December 2018, in the Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, and stool specimens were collected from patients before and after surgery. RESULTS: High-throughput sequencing of the 16S rRNA gene was used to detect the changes in microbial community structure and diversity, and the effects of total hysterectomy on the intestinal flora were further analyzed. Estrogen levels decreased after trans-abdominal hysterectomy. High-throughput sequencing showed that after abdominal hysterectomy, the abundance and diversity of the intestinal flora decreased. The abundance changes were mainly due to Proteobacteria, where their abundance increased. CONCLUSIONS: Trans-abdominal hysterectomy changes the intestinal flora of the body by lowering the level of estrogen in the body, which reduces the diversity and abundance of the intestinal flora.

Effectiveness and safety of Chinese herbal medicine xuanbi antong granules for the treatment of borderline coronary lesions: study protocol for a randomised, double-blinded, placebo-controlled, multicentre clinical trial.

INTRODUCTION: As the early stage of coronary heart disease (CHD), borderline coronary lesion (BCL) is defined as a 30%-70% diameter stenosis. Previous studies have demonstrated that BCL may progress to acute coronary syndrome easily. However, routine medications available for the treatments of BCL have some limitations. Xuanbi antong granule (XAG) has been used for the treatment of BCL in China for many years. Previous studies have shown that XAG has effectiveness in improving clinical symptoms and quality of life in patients with CHD. This study aims to evaluate the effectiveness and safety of XAG in patients with BCL. METHODS AND ANALYSIS: This is a multicentre, randomised, double-blinded, placebo-controlled clinical trial. A total of 300 participants will be randomly assigned to the intervention group and the placebo group. Based on routine medications, the intervention group will be treated with XAG and the placebo group will be treated with XAG placebo. All participants will receive a 6-month treatment and then be followed-up for another 6 months. The primary outcomes are the changes of target plaque characteristics (including target plaque volume, degree of stenosis, CT value and calcification score) measured by dual source CT angiography. The secondary outcomes include blood lipid indicators, efficacy of angina symptoms, Seattle Angina Questionnaire, high-sensitivity C-reactive protein and occurrence of major adverse cardiac events. All the data will be recorded in electronic case report forms and analysed by SPSS V.20.0. ETHICS AND DISSEMINATION: This study has been approved by Research Ethics Committee of Guang'anmen Hospital, China Academy of Chinese Medical Sciences in Beijing, China (No. 2017-083-KY-01). Written informed consent will be obtained from all participants. The results of this study will be disseminated to the public through academic conferences and peer-reviewed journals. TRIAL REGISTRATION NUMBER: ChiCTR-IOR-17013189; Pre-results.

Chinese herbal medicine Shenzhuo Formula treatment in patients with macroalbuminuria secondary to diabetic kidney disease: study protocol for a randomized controlled trial.

BACKGROUND: Diabetic kidney disease (DKD) is a serious complication associated with diabetes mellitus and can cause end-stage renal disease (ESRD). Traditional Chinese medicine (TCM) is widely used in China to treat DKD, and in particular microalbuminuria and macroalbuminuria. This study will address the efficacy and safety of Shenzhuo Formula (SZF), a frequently prescribed TCM, in DKD patients with macroalbuminuria. METHODS/DESIGN: This study is a 24-week, randomized, multi-center, double-blinded, double-dummy, controlled, clinical trial that will include 120 DKD patients aged 18 to 80 years old with a 24-h urinary protein (24-h UP) level of between 0.5 g and 3 g and serum creatinine (SCr) ≤ 133 µmol/L (1.5 mg/dL) and compare SZF to irbesartan. The 24-h UP change from baseline to week 24 will represent the primary endpoint with secondary endpoints including SCr, estimated glomerular filtration rate (eGFR), TCM symptoms, urinary albumin excretion rate (UAER), etc. Safety assessments will also be evaluated. DISCUSSION: This study will provide initial evidence regarding the efficacy and safety of SZF relative to irbesartan in the treatment of DKD patients with macroalbuminuria. TRIAL REGISTRATION: Chinese Clinical Trial Registry, ID: ChiCTR-ICR-15006311 . Registered on 15 April 2015.

Retrospective analysis of the overt proteinuria diabetic kidney disease in the treatment of modified Shenzhuo formula for 2 years.

The objective of the present study was to evaluate the 2-year effectiveness of modified Shenzhuo formula in the treatment of overt proteinuria diabetic kidney disease (DKD).Patients diagnosed with type 2 DKD in the clinical research database of Prof Xiaolin Tong (>20,000 data points) with >1-year follow-up were screened for this study. Patients' demographic data, chief complaint, present illness, past history, allergic history, personal history, family history, test results, tongue images, pulse information, and prescription information at 1, 1.5, and 2 years of follow-up were analyzed. EpiData3.1 was used to establish the electronic database of this research and SPSS v20.0 (SPSS Inc, Chicago, IL) was used for performing statistical analyses.The patients' common main symptoms of overt proteinuria DKD were weak breath and fatigue, numbness of limbs, insomnia, blurred vision, nocturia, edema, low backache, constipation, itchy skin ulcer, and chills. The average 24-hour urinary protein of patients treated with modified Shenzhuo formula was statistically significantly lower than baseline values at 1, 1.5, and 2 years (0.66 g, 95% confidence interval [CI] [-0.95, -0.41]; 1.00 g, 95% CI [-1.67, 0.38]; 1.11 g, 95% CI [-1.79, -0.57]). There are no statistically significant differences between the glomerular filtration rate at the baseline and that after modified Shenzhuo formula intervention. Statistically significant reductions in serum triglyceride and glycosylated hemoglobin values and systolic blood pressure also were recorded. Other indexes, including serum creatinine, blood urea nitrogen, diastolic blood pressure, cholesterol, high-density lipoprotein, and low-density lipoproteins, did not differ between baseline and post-treatment time points.Modified Shenzhuo formula could reduce 24-hour urinary protein excretion in patients with DKD. The formula maybe had the potential advantages on glomerular filtration rate, creatinine reciprocal, blood lipid levels, etc.

Administration of Traditional Chinese Blood Circulation Activating Drugs for Microvascular Complications in Patients with Type 2 Diabetes Mellitus.

Traditional Chinese medicine (TCM) is an important complementary strategy for treating diabetes mellitus (DM) in China. Traditional Chinese blood circulation activating drugs are intended to guide an overall approach to the prevention and treatment of microvascular complications of DM. The core mechanism is related to the protection of the vascular endothelium and the basement membrane. Here, we reviewed the scientific evidence underpinning the use of blood circulation activating drugs to prevent and treat DM-induced microvascular complications, including diabetic nephropathy (DN), diabetic peripheral neuropathy (DPN), and diabetic retinopathy (DR). Furthermore, we summarized the effects and mechanism of TCM on improving blood rheology, inhibiting aggregation of platelet, forming advanced glycation end products (AGEs), regulating oxidative stress, reducing blood fat, and improving lipid metabolism. The paper provides a new theoretical basis for the clinical practice of TCM in the prevention and treatment of DM and its microvascular complications.

Growing Trend of China's Contribution to Global Diabetes Research: A Systematic Literature Review.

China, as a rapidly developing country with the largest population in the world, is playing an increasingly important role in diabetes research. There are >10,000 diabetes doctors who care for a large population of diabetic patients. The quantity and quality of research on diabetes from 3 major regions of China, including Mainland China (ML), Taiwan (TW), and Hong Kong (HK), is unknown. We aimed to analyze the contributions of each of these 3 regions to diabetes research.Articles on diabetes originating from ML, TW, and HK that were published from 2005 to 2014 were retrieved from the Web of Science. The quantity of articles, citations, article types, and articles published in high-impact journals were analyzed.A total of 9302 articles were retrieved from the 3 regions of China. There were 6775 from ML, 1993 from TW, and 534 from HK, with an increasing trend in publications from 2005 to 2014. After 2006, the number of publications from ML exceeded TW and HK. The largest total number of citations (48,296) was from ML. The highest mean citations, however, were from HK (15.90). PLoS One was the most popular journal in all 3 regions. The greatest number of RCTs, clinical trials, meta-analyses, and articles published in high-impact journals were from ML.There has been a significant increase in the number of articles published on diabetes research from China during the past 10 years. Most of the articles were published by authors in ML, and an increasing trend began in 2006. HK had the highest quality research output in terms of mean citations per article.

Worldwide research productivity in the field of endocrinology and metabolism--a bibliometric analysis.

INTRODUCTION: Recently, significant contributions to the study of endocrinology and metabolism have been made. The national contribution, however, has not been reported. The aim of this study was to assess national efforts in the field of endocrinology and metabolism. MATERIAL AND METHODS: A Web of Science search was performed using subject categories "endocrinology & metabolism" to identify articles published from 2010 to 2014. The total and per capita numbers of articles and citations were analysed for different countries. RESULTS: A total of 79,394 articles were published on endocrinology and metabolism from 2010 to 2014. Most were published in North America, East Asia, and Europe. The majority (82.28%) were reported by authors in high-income countries, 17.64% were published in middle-income countries, and only 0.08% were published in low-income countries. Authors in the United States published the most articles (27.38%), followed by China (7.22%), Italy (5.70%), the United Kingdom (5.6%), and Japan (5.54%). Articles published by authors in the United States had the most citations (260,934). A positive correlation was found between the number of publications and population/gross domestic product (GDP; p < 0.01). When normalised to population size, the ranking for the most publications was Denmark, Sweden, and the Netherlands; when normalised to GDP, the ranking was Denmark, Greece, and the Netherlands. CONCLUSIONS: The majority of endocrinology and metabolism articles were published by authors from high-income countries with few from low-income countries. The United States was the most productive country. However, when population size and GDP were considered, some European countries were ranked higher.

[PCR products with heterozygous mutations containing two types of heteroduplexes].

OBJECTIVE: To confirm that PCR products with heterozygous mutations contain not only wide-type and mutant homoduplexes, but also two types of heteroduplexes. METHODS: An insertion-deletion mutation in the exon 1 of KRT9 gene (497delAinsGGCT), which caused Chinese epidermolytic palmoplantar keratoderma (EPPK) was investigated by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and denaturing high-performance liquid chromatography(DHPLC). RESULTS: Two heteroduplexes and two homoduplexes in the PCR product from the heterozygous mutation of the exon 1 of KRT9 (497delAinsGGCT) were detected. CONCLUSION: PCR products from KRT9 gene with heterozygous mutations contain two types of heteroduplexes. It is without the need to perform heating and cooling PCR products obtained from heterozygous mutations in advance before the mutation screening steps such as denaturing gradient gel electrophoresis (DGGE), temperature gradient gel electrophoresis (TGGE), conformation-sensitive gel electrophoresis (CSGE), DHPLC and heteroduplex analysis (HA), etc.

[Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].

In this article we reviewed the current researches on the molecular basis of epidermolytic palmoplantar keratoderma (EPPK) and the structure and function of the keratins with mutations that can cause inherited keratin disorders. Also summarized are seventeen mutations of keratin 9 in EPPK in different ethnic populations.

102T/C SNP in the 5-hydroxytryptamine receptor 2A (HTR2A) gene and schizophrenia in two southern Han Chinese populations: lack of association.

Serotonin (5-hydroxytryptamine; 5-HT) is a neurotransmitter that occupies a uniquely important place in neurobiology because of its role in many physiologic processes such as sleep, appetite, thermoregulation, pain perception, hormone secretion, and sexual behavior. Serotonin dysfunction has been implicated in the pathogenesis of schizophrenia. Previous studies have shown an association between the T102C polymorphism of the 5-hydroxytryptamine receptor 2A (HTR2A) gene and schizophrenia. However, many negative findings have also been reported. We analyzed the T102C polymorphism of HTR2A of schizophrenic patients in two southern Chinese populations (n = 291) and matched controls (n = 307). No significant positive association was observed between either of the polymorphisms and all schizophrenics, nor was the polymorphisms and any population of schizophrenia. These data did not provide evidence for a contribution of the 102T/C SNP of HTR2A gene to susceptibility to the southern Han Chinese schizophrenia.