OBJECTIVE: To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS). METHODS: We performed next-generation sequencing for 166 Chinese ALS patients to screen for possible pathogenic rare variants of HSPB1. The control individuals were obtained from 1000 Genome Project and an in-house whole-exome sequencing database. The Sequence Kernel Association Test (SKAT) and the SKAT-optimal test (SKAT-O) were used to identify the association between rare HSPB1 variants and ALS. RESULTS: We identified 3 possible pathogenic rare variants of HSPB1 (all were missenses), including c.379C>T (p.R127W), c.446A>C (p.D149A) and c.451A>C (p.T151P). Compared with 1000 Genome Project, SKAT p=3.61×10 CONCLUSIONS Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.
Amyotrophic Lateral Sclerosis/genetics* ; Asian Continental Ancestry Group ; Heat-Shock Proteins ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Molecular Chaperones ; Phenotype

Asian Continental Ancestry Group ; Blood Coagulation Disorders/therapy* ; China ; Consensus ; Hemorrhage ; Humans

Asian Continental Ancestry Group ; Chemical and Drug Induced Liver Injury/etiology* ; China ; Consensus ; Hematologic Diseases ; Humans

Asian Continental Ancestry Group ; China ; Consensus ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Humans ; Transplantation Conditioning

Hypertension is a major problem of public health that endangers the health of the oldest old. However, the current guidelines for hypertension management do not uniformly diagnose hypertension among the oldest old, nor recommend a normal blood pressure range, which is not convictive enough to support the decision making to the prevention of blood pressure-related adverse events. This guideline gives guiding opinions on optimal blood pressure range for the Chinese oldest old, which applies to the staff of medical and health institutions at all levels nationwide to evaluate the blood pressure levels of the oldest old. It includes the sections of general principles, methods and standards of blood pressure evaluation, measurement conditions, specifications of blood pressure measurement, implementation approaches, etc. The guideline has important directive significance for improving the blood pressure management and decision-making level of the Chinese oldest old.
Aged, 80 and over ; Asian Continental Ancestry Group ; Blood Pressure ; Blood Pressure Determination ; China ; Humans ; Hypertension/prevention & control*

Asian Continental Ancestry Group ; China ; Consensus ; Humans ; Medicine, Chinese Traditional ; Stroke/diagnosis*

BACKGROUND: Cumulative blood pressure (BP), a measure incorporating the level and duration of BP exposure, is associated with the risk of cardiovascular disease (CVD). However, the level at which cumulative BP could significantly increase the risk remains unclear. This study aimed to investigate the association of 15-year cumulative BP levels with the long-term risk of CVD, and to examine whether the association is independent of BP levels at one examination. METHODS: Data from a 26-year follow-up of the Chinese Multi-provincial Cohort Study-Beijing Project were analyzed. Cumulative BP levels between 1992 and 2007 were calculated among 2429 participants free of CVD in 2007. Cardiovascular events (including coronary heart disease and stroke) occurring from 2007 to 2018 were registered. Adjusted hazard ratios (HRs) for CVD incidence associated with quartiles of cumulative systolic blood pressure (SBP) and diastolic blood pressure (DBP) were calculated. RESULTS: Of the 2429 participants, 42.9% (1042) were men, and the mean age in 2007 was 62.1 ± 7.9 years. Totally, 207 CVD events occurred during the follow-up from 2007 to 2018. Participants with higher levels of cumulative SBP or DBP exhibited a higher incidence rate of CVD (P < 0.001). Compared with the lowest quartile of cumulative SBP, the HR for CVD was 1.03 (95% confidence interval [CI]: 0.59-1.81), 1.69 (95% CI: 0.99-2.87), and 2.20 (95% CI: 1.21-3.98) for the second to the fourth quartile of cumulative SBP, and 1.46 (95% CI: 0.86-2.48), 1.99 (95% CI: 1.18-3.35), and 2.08 (95% CI: 1.17-3.71) for the second to the fourth quartile of cumulative DBP, respectively. In further cross-combined group analyses with BP measurements in 2007, 15-year cumulative BP levels higher than the median, that is, 1970.8/1239.9 mmHg·year for cumulative SBP/DBP, which were equivalent to maintaining SBP/DBP levels of 131/83 mmHg or above on average in 15 years, were associated with higher risk of CVD in subsequent years independent of BP measurements at one-time point. CONCLUSION Cumulative exposure to moderate elevation of BP is independently associated with increased future cardiovascular risk.
Aged ; Asian Continental Ancestry Group ; Blood Pressure/physiology* ; Cardiovascular Diseases/etiology* ; China/epidemiology* ; Cohort Studies ; Humans ; Hypertension/epidemiology* ; Incidence ; Male ; Middle Aged ; Risk Factors

BACKGROUND: Single-nucleotide polymorphisms (SNPs)-associated genes and long non-coding RNAs (lncRNAs) can contribute to human disease. To comprehensively investigate the contribution of lncRNAs to breast cancer, we performed the first genome-wide lncRNA association study on Han Chinese women. METHODS: We designed an lncRNA array containing >800,000 SNPs, which was incorporated into a 96-array plate by Affymetrix (CapitalBio Technology, China). Subsequently, we performed a two-stage genome-wide lncRNA association study on Han Chinese women covering 11,942 individuals (5634 breast cancer patients and 6308 healthy controls). Additionally, in vitro gain or loss of function strategies were performed to clarify the function of a novel SNP-associated gene. RESULTS: We identified a novel breast cancer-associated susceptibility SNP, rs11066150 (Pmeta = 2.34 × 10-8), and a previously reported SNP, rs9397435 (Pmeta = 4.32 × 10-38), in Han Chinese women. rs11066150 is located in NONHSAT164009.1 (lncHSAT164), which is highly expressed in breast cancer tissues and cell lines. lncHSAT164 overexpression promoted colony formation, whereas lncHSAT164 knockdown promoted cell apoptosis and reduced colony formation by regulating the cell cycle. CONCLUSIONS Based on our lncRNA array, we identified a novel breast cancer-associated lncRNA and found that lncHSAT164 may contribute to breast cancer by regulating the cell cycle. These findings suggest a potential therapeutic target in breast cancer.
Asian Continental Ancestry Group/genetics* ; Breast Neoplasms/genetics* ; Case-Control Studies ; China ; Female ; Genetic Predisposition to Disease/genetics* ; Genome-Wide Association Study ; Humans ; Polymorphism, Single Nucleotide/genetics* ; RNA, Long Noncoding/genetics*

Asian Continental Ancestry Group ; Consensus ; Gastrointestinal Neoplasms/diagnosis* ; Gastrointestinal Tract ; Humans ; Neuroendocrine Tumors/diagnosis* ; Pancreatic Neoplasms/diagnosis*

Asian Continental Ancestry Group/genetics* ; BRCA1 Protein/genetics* ; China ; Consensus ; Humans