Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications. Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants. Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at MTNR1B (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI],1.38 to 1.96]), CDKAL1 (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and INS-IGF2-KCNQ1 (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near TBR1-SLC4A10 (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; Pmeta=7.6×10-9), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; Pmeta=3.1×10-14) and 71% (95% CI, 1.08 to 2.71; P=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals. Conclusion Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.

BACKGROUND AND OBJECTIVES: Behçet's disease (BD) is a systemic vasculitis that is characterized by genital, oral, or skin lesions, uveitis, and vascular complications. Studies have shown that increased arterial stiffness is common in systemic immune and inflammatory diseases such as rheumatoid arthritis and systemic lupus erythematosus. However, current research has not yet determined whether patients with BD have increased arterial stiffness. This meta-analysis compares arterial stiffness parameters in subjects with a BD diagnosis to normal subjects. SUBJECTS AND METHODS: A comprehensive search of the MEDLINE and EMBASE databases was performed from the database beginning through May 2016. Observation studies were included in this analysis if they assessed the association between BD and arterial stiffness in adult subjects. BD patients met the International Study Group criteria for a diagnosis of Behçet's disease. Aortic stiffness was assessed using carotid-femoral pulse wave velocity (PWV) measurements as an indicator. Pooled mean difference (MD) of PWV and 95% confidence intervals (CI) were calculated using a random-effect, generic inverse variance meta-analysis. The between-study heterogeneity of effect-size was quantified using the Q statistic and I². RESULTS: Data were extracted from four observational studies that included 303 subjects. PWV is significantly higher in patients with Behçet's disease compared with controls (MD=0.74;95%, CI: 0.28-1.20, p=0.002, I²=63%). CONCLUSION: In this meta-analysis, we observed that PWV, an ideal indicator of arterial stiffness, is increased in patients with Behçet's disease compared with the controls. Prospective studies in a large population should be done to determine the pathophysiological and prognostic implications of increased arterial stiffness in BD.
Adult ; Arthritis, Rheumatoid ; Diagnosis ; Humans ; Lupus Erythematosus, Systemic ; Population Characteristics ; Prospective Studies ; Pulse Wave Analysis ; Skin ; Systemic Vasculitis ; Uveitis ; Vascular Stiffness*

OBJECTIVETo survey the reporting quality of traditional Chinese medicine (TCM) case reports published in recent years and understand the common problems. The assessment results would lay the foundation for the development of recommendations for case report in Chinese medicine.

METHODSThis survey determined the reporting quality of cases with Chinese herbal decoction, Chinese proprietary medicine, acupuncture, moxibustion and other traditional therapies published in 20 core medical journals of China by searching the China Academic Journals Full-text Database from 2006 to 2010. Fifty survey items in 16 domains were used to determine the reporting quality. One point was assigned to each item (Yes=1 point; No=0 point), and total score was 50 points. The domain of treatment was assessed independently, ranging from 2 to 9 items for different TCM interventions.

RESULTSThe total of 1,858 case reports, covering 3,417 cases were included to analyze from 13 out of 20 core medical journals of China. There were 74.8% of them did not identify the nature of study in title, while 73.9% did not comprise an abstract. Incomplete reporting was found in discussions/ comment, and only 38.9% had made recommendations or take-away messages. Figures and tables were infrequently used. Three cases cited the full names of patients, but without declaring that any consent was obtained. Over 90% reported the symptoms and signs of TCM, and characteristics on tongue and pulse, but less than 50% did mention other medical history and diagnostic rationale. More than 90% treatments of the included cases were herbal decoction, with clear reporting on the ingredients and dosages. However, the reporting rate of the dosages of each ingredient was just 48.4%. Almost none reported the quality control of crude herbs, manufacturers and lot numbers of herbal proprietary medicine. Besides, advices and precautions on diet, emotions and living were rare to be illustrated.

CONCLUSIONSystematic reporting recommendations are urged to develop for improving the contents and format of case reports in TCM.

Humans ; Medicine, Chinese Traditional ; Outcome Assessment (Health Care) ; Periodicals as Topic ; Quality Assurance, Health Care ; Research Report ; standards

Case reports are valuable clinical evidence in traditional Chinese medicine (TCM). However, the general reporting quality is suboptimal. A working group comprising 20 members was set up to develop systematic recommendations on case report in Chinese medicine (CARC). The working group (CARC group) developed a primary checklist based on reviewing the general reporting quality of case reports in TCM and thorough internal discussion. Two-round consensus process had been carried out among clinical experts, evidence-based medicine methodologists, medical journal editors and clinical practitioners with designated questionnaire embedded with the primary checklist. In total, 118 participants from 17 provinces of China and Korea completed the questionnaires. Their feedback was analyzed and discussed by the CARC group. The checklist was amended accordingly, and the final version, comprising 16-item, is presented here. Under the framework of CARC recommendations, the reporting quality of case reports in TCM can be improved.
Consensus ; Female ; Health Planning Guidelines ; Humans ; Male ; Medical Records ; Medicine, Chinese Traditional ; Research Report