scholarly journals Clinical relevant polymorphisms affecting clopidogrel pharmacokinetics and pharmacodynamics: Insights from the Puerto Rico Newborn Screening Program

2018 ◽  
Author(s):  
Dagmar Fredy Hernandez-Suarez ◽  
Jonnalie Tomassini-Fernandini ◽  
Angelica Cuevas ◽  
Anyelis Rosario-Berrios ◽  
Héctor Nuñez-Medina ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Puerto Ricans ◽  
African Ancestry ◽  
Population Based ◽  
Genome Project ◽  
Newborn Screening Program ◽  
Cross Sectional ◽  
Population Based Study ◽  
Hardy Weinberg Equilibrium

Background: Variations in several clopidogrel-pharmacogenes have been linked to clopidogrel response variability and clinical outcomes. We aimed to determine the frequency distribution of major polymorphisms on CYP2C19, PON1, ABCB1 and P2RY12 pharmacogenes in Puerto Ricans. Methods: This was a cross-sectional, population-based study of 200 unrelated “Guthrie” cards specimens from newborns registered in the Puerto Rican Newborn Screening program (PRNSP) between 2004 and 2014. Taqman® SNP assay techniques were used for genotyping. Results: Minor Allele Frequencies (MAF) were 46% for PON1 (rs662), 41% for ABCB1 (rs1045642), 14% for CYP2C19*17, 13% for CYP2C19*2, 12% for P2RY12-H2 and 0.3% for CYP2C19*4. No carriers of the CYP2C19*3 variants were detected. All alleles and genotype proportions were found to be in Hardy-Weinberg equilibrium (HWE). Overall, there were no significant differences between MAFs of these variants in Puerto Ricans and the general population (n=453) of the 1,000 Genome project, except for the Yoruba in Ibadan from Nigeria (YRI, West-African ancestry; p<0.05). As expected, the prevalence of these markers in Puerto Ricans most resembled those in the 181 subjects from reference populations of the Americas. Conclusions: These prevalence data provide a necessary groundwork for future clinical studies of clopidogrel pharmacogenetics in Caribbean Hispanics.

scholarly journals Mucopolysaccharidosis Type I Disease Prevalence among Idiopathic Short Stature Patients in Saudi Arabia: A Multicenter, Cross-sectional, Study (Preprint)

2021 ◽  
Author(s):  
Danyah Alsafadi ◽  
Aly Ezzat ◽  
Fatima Altamimi ◽  
Marwan ElBagoury ◽  
Mohammed Olfat ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Newborn Screening ◽  
Short Stature ◽  
Screening Program ◽  
Idiopathic Short Stature ◽  
Accurate Estimation ◽  
Type I ◽  
Newborn Screening Program ◽  
Multicenter Studies ◽  
Cross Sectional

UNSTRUCTURED Background: Since the underlying cause of an idiopathic short stature, could be indeed an undiagnosed MPS type I patient, it will be critical to identify MPS type I patients amongst screened patients with idiopathic short stature. Therefore, the primary objective of this study is to determine the prevalence of MPS type I disease in the high-risk group (patients with idiopathic short stature). Methods: We planned to perform a multicenter, cross-sectional, screening study to primarily assess the prevalence of MPS type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents/guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics. A total of 800 patients was required for this study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. To date, there are no reliable data regarding the incidence or prevalence of MPS type I in Saudi Arabia, and future multicenter studies are needed. Besides, the prevalence of an attenuated form of MPS type I is largely underestimated in Saudi Arabia due to the absence of an effective newborn screening program. Therefore, the implementation of a nationwide newborn screening program is essential for accurate estimation of the burden of MPS and early diagnosis of the patients.

scholarly journals Association between Blood Pressure and Serum Thyroid-Stimulating Hormone Concentration within the Reference Range: A Population-Based Study

2007 ◽  
Vol 92 (3) ◽  
pp. 841-845 ◽  
Author(s):  
Bjørn O. Åsvold ◽  
Trine Bjøro ◽  
Tom I. L. Nilsen ◽  
Lars J. Vatten
Keyword(s):  
Blood Pressure ◽  
Diastolic Blood Pressure ◽  
Outcome Measures ◽  
Odds Ratio ◽  
Reference Range ◽  
Positive Association ◽  
Population Based ◽  
Thyroid Stimulating Hormone ◽  
Cross Sectional ◽  
Population Based Study

Abstract Context: The association between thyroid function and blood pressure is insufficiently studied. Objective: The objective of the investigation was to study the association between TSH within the reference range and blood pressure. Design and Setting: This was a cross-sectional, population-based study. Subjects: A total of 30,728 individuals without previously known thyroid disease were studied. Main Outcome Measures: The main outcome measures were mean systolic and diastolic blood pressure and pulse pressure and odds ratio for hypertension (>140/90 mm Hg or current or previous use of antihypertensive medication), according to categories of TSH. Results: Within the reference range of TSH (0.50–3.5 mU/liter), there was a linear increase in blood pressure with increasing TSH. The average increase in systolic blood pressure was 2.0 mm Hg [95% confidence interval (CI) 1.4–2.6 mm Hg] per milliunit per liter increase in TSH among men, and 1.8 mm Hg (95% CI 1.4–2.3 mm Hg) in women. The corresponding increase in diastolic blood pressure was 1.6 mm Hg (95% CI 1.2–2.0 mm Hg) in men and 1.1 mm Hg (95% CI 0.8–1.3 mm Hg) in women. Comparing TSH of 3.0–3.5 mU/liter (upper part of the reference) with TSH of 0.50–0.99 mU/liter (lower part of the reference), the odds ratio for hypertension was 1.98 (95% CI 1.56–2.53) in men and 1.23 (95% CI 1.04–1.46) in women. Conclusion: Within the reference range of TSH, we found a linear positive association between TSH and systolic and diastolic blood pressure that may have long-term implications for cardiovascular health.

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