1.Clinical, metabolic, and autoimmune characteristics of newly diagnosed young Filipino adults with diabetes mellitus.
Elizabeth PAZ-PACHECO ; Angelique Bea C. UY ; Angelique Love TIGLAO-GICA ; Anna Elvira S. ARCELLANA ; Aura Bree DAYO-LACDAO ; Cynthia P. CORDERO ; Cecilia A. JIMENO ; Ma. Cecille ANONUEVO-CRUZ ; Noel R. JUBAN
Acta Medica Philippina 2026;60(2):41-49
OBJECTIVES
In Asia, younger individuals (below age 45) are diagnosed to have type 2 diabetes with increased rates of obesity defined by lower BMI yet with greater visceral adiposity (waist circumference and waisthip ratios). The prevalence data on type 1 diabetes is not well established, considered to be low, but is seen to be increasing as well. This changing phenotype therefore, presents a clinical dilemma in terms of correctly classifying diabetes and deciding on the consequent appropriate treatment. Distinguishing type 1 from type 2 diabetes has become more difficult with type 2 diabetes dramatically increasing in young adults and children. This study aims to define the characteristics of diabetes among young adults in the Philippines to provide a basis for appropriate management amidst changes in diabetes phenotypes seen globally.
METHODSIn this cross-sectional analytic study, we characterized the demographic, metabolic, and autoimmune features of diabetes among young adult Filipinos aged 18 to 45 years old consulting at a tertiary referral center in Manila, Philippines. Baseline serum A1c, FBS, 75-g oral glucose tolerance test, insulin, serum C-peptide, insulin autoantibodies, leptin, adiponectin, lipid profile, and thyroid function tests were obtained from the participants and analyzed. The homeostasis model assessment (HOMA) was used to estimate the insulin sensitivity.
RESULTSA total of 348 patients with diabetes were included, with females comprising two-thirds of the participants. The mean age at diagnosis of diabetes was 35.9±7.22 years. The mean BMI was 28.12 kg/m2, with median waist to hip ratio (WHR) of 0·93. Metabolic syndrome was found in 60% of participants and 67.82% were obese by body mass index. The mean A1c was 9.07±2.52%. Good glucose control (A1c less than 7.0%) was seen in 23% of participants while nearly half (48%) had HbA1c which was >9.0%. The median levels of fasting insulin and C-peptide were 12.62 (range 1.33–90.42) mIU/L and 0.78 ng/mL (range 0–16.2), respectively.
Included participants were diagnosed with diabetes within a year and as such, majority did not have any micro- or macrovascular complications. The most common diabetes complication was sensory neuropathy detected by monofilament testing, which was found in 28% of participants, followed by non-proliferative diabetic retinopathy in 13%. A history of previous diabetic ketoacidosis was found in 10 patients (2.87%). Glutamic acid decarboxylase (GAD) and insulin auto-antibodies were found in 3.2% and 19.3% of participants, respectively. Approximately half (51.73%) of the participants were insulin resistant by HOMA-IR.
CONCLUSIONIn contrast with Caucasians and other Asians, diabetes among young Filipino adults is associated with lower BMI but with a similarly high visceral adiposity as shown by an elevated WHR. Metabolic syndrome with insulin resistance as defined by a variety of indices is predominant. Type 1 diabetes with autoantibodies occur in only a small fraction of this population. Data derived from this work can provide a framework for cluster analysis towards personalized management specific to this population.
Human ; Acids ; Adiponectin ; Adiposity ; Adult ; Aged ; Antibodies ; Asia ; Asian ; Asian Continental Ancestry Group ; Autoantibodies ; Body Mass Index ; C-peptide ; Carboxy-lyases ; Child ; Cluster Analysis ; Demography ; Diabetes Complications ; Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Diabetes Mellitus, Type 2 ; Diabetic Ketoacidosis ; Diabetic Retinopathy ; Diagnosis ; Fasting ; Female ; Glucose ; Glucose Tolerance Test ; Glutamate Decarboxylase ; Glutamic Acid ; Insulin ; Insulin Resistance ; Ketosis ; Leptin ; Lipids ; Metabolic Syndrome ; Obesity ; Patients ; Peptides ; Phenotype ; Philippines ; Population ; Prevalence ; Serum ; Therapeutics ; Thyroid Gland ; Thyroid Function Tests ; Young Adult
3.Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis.
Junyi CHEN ; Xiangyi LIU ; Yingsheng XU ; Dongsheng FAN
Journal of Southern Medical University 2021;41(1):75-78
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*
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Asian Continental Ancestry Group
;
Heat-Shock Proteins
;
Heterozygote
;
High-Throughput Nucleotide Sequencing
;
Humans
;
Molecular Chaperones
;
Phenotype
7.Guideline on optimal blood pressure range for Chinese oldest old.
Chinese Journal of Preventive Medicine 2021;55(3):335-338
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*
9.Association between cumulative blood pressure and long-term risk of cardiovascular disease: findings from the 26-year Chinese Multi-provincial Cohort Study-Beijing Project.
Shuai LIU ; Dong ZHAO ; Miao WANG ; Yue QI ; Jia-Yi SUN ; Jun LIU ; Yan LI ; Jing LIU
Chinese Medical Journal 2021;134(8):920-926
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
10.Genome-wide long non-coding RNA association study on Han Chinese women identifies lncHSAT164 as a novel susceptibility gene for breast cancer.
Jing-Kai XU ; Guo-Zheng LI ; Zhi LI ; Wen-Jing LI ; Run-Sheng CHEN ; Bo ZHANG ; Xue-Jun ZHANG
Chinese Medical Journal 2021;134(10):1138-1145
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*


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