A genetic polymorphism in GCKR may be associated with low high-density lipoprotein cholesterol phenotype among Filipinos: A case-control study

@#<p style="text-align: justify;"><strong>Background.</strong> Low levels of high-density lipoprotein cholesterol (HDL-c) is a well-recognized risk factor in the development of cardiovascular diseases. Associated gene variants for low HDL-c have already been demonstrated in various populations. Such associations have yet to be established among Filipinos who reportedly have a much higher prevalence of low HDL-c levels compared to other races.</p><p style="text-align: justify;"><strong>Objective.</strong> To determine the association of selected genetic variants and clinical factors with low HDL-c phenotype in Filipinos.</p><p style="text-align: justify;"><strong>Methods.</strong> An age- and sex-matched case-control study was conducted among adult Filipino participants with serum HDL-c concentration less than 35 mg/dL (n=61) and those with HDL-c levels of more than 40 mg/dL (n=116). Genotyping was done using DNA obtained from blood samples. Candidate variants were correlated with the low HDL-c phenotype using chi-squared test and conditional logistic regression analysis.</p><p style="text-align: justify;"><strong>Results.</strong> Twelve single nucleotide polymorphisms (SNPs) were associated with low HDL-c phenotype among Filipinos with univariate regression analysis. The variant rs1260326 of glucokinase regulator (GCKR) (CT genotype: adjusted OR=5.17; p-value=0.007; TT genotype: adjusted OR=6.28; p-value=0.027) remained associated with low HDL-c phenotype, together with hypertension and elevated body mass index, after multiple regression analysis.</p><p style="text-align: justify;"><strong>Conclusion.</strong> The variant rs1260326 near GCKR is associated with low HDL-c phenotype among Filipinos. Its role in the expression of low HDL-c phenotype should be further investigated prior to the development of possible clinical applications.</p>

Variants near CETP, MTTP and BUD13-ZPR1-APOA5 may be nominally associated with poor statin response among Filipinos

@#<p style="text-align: justify;"><strong>Objective.</strong> Several studies showed that genetic factors affect responsiveness to statins among different populations. This study investigated the associations of candidate genetic variants with poor response to statins among Filipinos.</p><p style="text-align: justify;"><strong>Methods.</strong> In this unmatched case-control study, dyslipidemic participants were grouped into statin responders and poor responders based on the degree of reduction in LDL-c from baseline. DNA from blood samples were genotyped and analyzed. The association of candidate variants with statin response was determined using chi-square and logistic regression analysis.</p><p style="text-align: justify;"><strong>Results.</strong> We included 162 adults on statins (30 poor responders as cases, 132 good responders as controls). The following variants are nominally associated with poor response to statin among Filipinos at a per-comparison error rate of 0.05: rs173539 near CETP (OR=3.05, p=0.015), rs1800591 in MTTP (OR=3.07, p=0.021), and rs1558861 near the BUD13-ZPR1-APOA5 region (OR=5.08, p=0.004).</p><p style="text-align: justify;"><strong>Conclusion.</strong> Genetic variants near CETP, MTTP and the BUD13-ZPR1-APOA5 region are associated with poor response to statins among Filipinos. Further study is recommended to test the external validity of the study in the general Filipino population.</p>

Disease characteristics of Takayasu’s Arteritis among Filipino patients seen at Rheumatology Clinics

Introduction@#Takayasu’s arteritis (TA), a large vessel vasculitis has various initial presenting manifestations; making it difficult to diagnose. Hence, the number of those with the disease in the population is underestimated. The study intends to update local data and to describe different presentations of the disease to enhance awareness for TA.@*Methods@#This is a retrospective study done in a tertiary government hospital. Twenty-two out of twenty three charts of patients diagnosed with TA based on the 1990 ACR criteria were reviewed. Demographic profile, initial clinical manifestations, imaging, treatment and outcomes were collected. Descriptive statistics was applied. Institutional Review Board approval was obtained prior to study initiation.@*Results@#Majority (90.1%) were female; mean age at onset of symptoms and at diagnosis were 30.4 (+12.3)years and 33.2 (+12.0)years respectively. The common reasons for consult were hypertension (26.3%), claudication (21.1%) and abdominal pain (11%). Laboratories showed elevated erythrocyte sedimentation rate (87.5%), leukocytosis (43.8%), anemia (31%) and thrombocytosis (4.5%). Common imaging findings were cardiomegaly (27.3%), aortic regurgitation (27.3%) and carotid stenosis (18.2%). CT angiogram in 90% of cases demonstrated arterial wall narrowing. Other findings were aneurysm (31.8%), contour irregularities (13.6%) and femoral artery occlusion (4.5%). Treatment for active disease were glucocorticoids alone (44%) and combined glucocorticoids and other immunosuppressants (56%). Of the 22 records reviewed, six patients (27%) had stroke. Four (18.2 %) had different surgical procedures; ray amputation of toe for digital ischemia, embolectomy for digital gangrene, balloon angioplasty of the renal artery and renal angioplasty for stenosis. Two (9.1%) who had pregnancies after TA diagnosis had premature deliveries without neonatal complications. No mortality was recorded over the mean follow-up of 49.33 patient-years.@*Conclusion@#Clinicians should be aware of the different initial presenting signs and symptoms of TA since development of collateral circulation may mask other symptoms. Thus, thorough history and physical assessment are essential tools in the diagnosis of TA.