Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Statin use reduces cardiovascular events and all-cause mortality amongst Chinese patients with type 2 diabetes mellitus: a 5-year cohort study

Abstract Background The benefit of statin on the management of Type 2 Diabetes Mellitus (T2DM) among Chinese patients in primary care is not clear nor fully implemented in clinical practice. This study aimed to evaluate and quantify the benefit of statin on the overall cardiovascular risk and all-cause mortality in patients with T2DM. Methods Uncomplicated diabetic patients with baseline low-density-lipoprotein cholesterol (LDL-C) > 2.6 mmol/L and without statin use before baseline in 2010 were followed-up for 5 years for cardiovascular disease (CVD) events and all-cause mortality. Propensity score matching analysis was conducted to identify patients who were newly prescribed statin at baseline and then compared to non-statin users with similar baseline characteristics. Subgroup analysis was done within the statin group to detect any difference in outcomes between patients achieving target LDL-C of <2.6 mmol/L and not. Multivariable Cox proportional hazards regression with adjustment of all baseline covariates was used to evaluate the effect of statin on outcome events. Hazard ratio (HR) and its 95% confidence intervals were reported. Results 10,104 pairs of diabetic patients were propensity score matched. Statin users had an extra drop of 1.21 mmol/L in LDL-C than non-users. Statin group had a CVD incidence rate of 16.533 per 1000 person-years whereas comparison group had 32.387 per 1000 person-years (HR: 0.458) during a median follow-up period of 50.5 months. Statin group had a mortality rate of 8.138 deaths per 1000 person-years whereas comparison group had 19.603 deaths per 1000 person-years (HR: 0.378). For patients prescribed with statin, the HR was 0.491 for CVD and 0.487 for all-cause mortality if target of LDL-C < 2.6 mmol/L achieved compare to those not achieved. Conclusions Use of statin was associated with a significant decrease in CVD risk and all-cause mortality among diabetic patients in primary care, and the risk reduction was most significant if the target of LDL-C less than 2.6 mmol/L was achieved

The Health-Related Quality of Life of Chinese Patients on Hemodialysis and Peritoneal Dialysis

© 2017 Springer International Publishing Switzerland Aims: Our aim was to compare health-related quality of life (HRQOL) between end-stage renal disease (ESRD) patients and the Hong Kong general population to identify how the mode of dialysis and other factors were associated with HRQOL. Methods: We conducted a cross-sectional study involving 253 hemodialysis (HD) patients and 103 peritoneal dialysis (PD) patients recruited in 2014â 2015. Their HRQOL was evaluated using Kidney Disease and Quality of Life-36 (KDQOL-36) sub-scale scores and the Short Form-6 Dimensions (SF-6D) health preference score. One-way analysis of variance was used to analyze the difference in mean KDQOL-36 and SF-6D scores among PD patients, HD patients, and an exact age- and sex-matched general population. Multiple linear regressions were conducted to evaluate factors associated with the KDQOL-36 and SF-6D scores. Results: The physical HRQOL of ESRD patients on dialysis was worse than that of the age- and sex-matched general population (38.4 vs. 49.6), but mental HRQOL was similar (50.7 vs. 52.0). After adjusting for all baseline characteristics, male subjects was associated with higher physical component summary (PCS), SF-6D, and symptom scores. A higher level of education (secondary or tertiary) was associated with higher mental component summary (MCS), SF-6D, symptom, and effects scores. Patients who were female, younger, married, and less educated and had a history of cardiovascular disease (CVD) and did not achieve target hemoglobin and albumin levels were associated with poorer HRQOL outcomes. Conclusions: HD was associated with a greater negative impact of ESRD on daily lives than was PD, which may be a consideration when deciding on the dialysis modality for first-line renal replacement therapy. To improve HRQOL among patients on maintenance dialysis, more attention should be paid to those with demographic risk factors, preventing CVD, and meeting clinical dialysis outcome targets such as hemoglobin and albumin levels.Link_to_subscribed_fulltex

Prediction of new onset of end stage renal disease in Chinese patients with type 2 diabetes mellitus – a population-based retrospective cohort study

Abstract Background Since diabetes mellitus (DM) is the leading cause of end stage renal disease (ESRD), this study aimed to develop a 5-year ESRD risk prediction model among Chinese patients with Type 2 DM (T2DM) in primary care. Methods A retrospective cohort study was conducted on 149,333 Chinese adult T2DM primary care patients without ESRD in 2010. Using the derivation cohort over a median of 5 years follow-up, the gender-specific models including the interaction effect between predictors and age were derived using Cox regression with a forward stepwise approach. Harrell’s C-statistic and calibration plot were applied to the validation cohort to assess discrimination and calibration of the models. Results Prediction models showed better discrimination with Harrell’s C-statistics of 0.866 (males) and 0.862 (females) and calibration power from the plots than other established models. The predictors included age, usages of anti-hypertensive drugs, anti-glucose drugs, and Hemogloblin A1c, blood pressure, urine albumin/creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR). Specific predictors for male were smoking and presence of sight threatening diabetic retinopathy while additional predictors for female included longer duration of diabetes and quadratic effect of body mass index. Interaction factors with age showed a greater weighting of insulin and urine ACR in younger males, and eGFR in younger females. Conclusions Our newly developed gender-specific models provide a more accurate 5-year ESRD risk predictions for Chinese diabetic primary care patients than other existing models. The models included several modifiable risk factors that clinicians can use to counsel patients, and to target at in the delivery of care to patients