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Nutrition, Metabolism, and... Dec 2011rs17321515 SNP has been associated with variation in LDL-C, high density lipoprotein cholesterol and triglycerides concentrations. This effect has never been studied in...
BACKGROUND AND AIMS
rs17321515 SNP has been associated with variation in LDL-C, high density lipoprotein cholesterol and triglycerides concentrations. This effect has never been studied in patients with severe hypercholesterolemia. Therefore, our aims were to assess the association of the rs17321515 (TRIB1) SNP with plasma lipids concentrations and anthropometric variables and to explore the interaction between this SNP and some classic risk factors in patients with familial hypercholesterolemia (FH).
METHODS AND RESULTS
rs17321515 SNP was genotyped in 531 subjects with genetic diagnosis of FH. Homozygous A/A had significantly higher waist circumference compared with G/G subjects (P = 0.006) and carriers of the minor allele G (P = 0.039). Interestingly, smokers homozygous for the A allele displayed higher plasma triglycerides concentrations (P = 0.029), higher VLDL-C levels (P = 0.023) and higher TC/HDL-C ratio (P = 0.035) than carriers of the minor allele G. In addition, homozygous A/A with the presence of arcus cornealis displayed lower plasma ApoA-I levels (P = 0.024) and higher TC/HDL-C ratio (P = 0.046) than carriers of the minor allele G.
CONCLUSIONS
Smoking status and presence of arcus cornealis modulate the effect of rs17321515 (TRIB1) polymorphism on plasma lipids levels in patients with FH. These results could explain the differences in the susceptibility to coronary heart disease in these patients.
Topics: Adult; Apolipoprotein A-I; Arcus Senilis; Cholesterol, HDL; Cholesterol, LDL; Cohort Studies; Coronary Disease; Female; Genetic Association Studies; Humans; Hyperlipoproteinemia Type II; Intracellular Signaling Peptides and Proteins; Lipids; Male; Middle Aged; Overweight; Polymorphism, Single Nucleotide; Protein Serine-Threonine Kinases; Risk Factors; Smoking; Spain; Triglycerides
PubMed: 20692138
DOI: 10.1016/j.numecd.2010.04.002 -
American Journal of Ophthalmology Oct 2010To examine the relationship of corneal arcus with cardiovascular risk factors and inflammation in Malay adults living in Singapore.
PURPOSE
To examine the relationship of corneal arcus with cardiovascular risk factors and inflammation in Malay adults living in Singapore.
DESIGN
Population-based cross-sectional study.
METHODS
A total of 3280 Malays aged 40-80 years (out of 4168 eligible participants; 78.7% response rate) had a standardized interview, systemic and ocular examinations, and laboratory investigations, including measurement of C-reactive protein (CRP), chronic kidney disease, and peripheral artery disease. Corneal arcus was defined from anterior segment images taken with a slit-lamp camera.
RESULTS
Corneal arcus was seen in 2345 out of 3260 participants who had anterior segment images (73.2%). After adjustment for age, gender, total cholesterol, serum glucose, and current smoking, many cardiovascular risk factors significantly associated with corneal arcus, including male gender (odds ratio [OR] 1.65, 95% confidence interval [CI] 1.27-2.03), older age (per 10 years, OR 4.49, 95% CI 3.91-5.15), higher body mass index (per kg/m(2), OR 1.02, 95% CI 1.00-1.04), higher levels of CRP (per 10 mg/L, OR 1.36, 95% CI 1.13-1.64), total cholesterol (per mmol/L, OR 1.21, 95% CI 1.11-1.32), low-density lipoprotein cholesterol (per mmol/L, OR 1.94, 95% CI 1.38-2.74), presence of peripheral artery disease (OR 3.85, 95% CI 1.29-11.5), chronic kidney disease (OR 1.14, 95% CI 1.03-1.38), and current smoking (OR 1.29, 95% CI 1.02-1.69).
CONCLUSIONS
This study confirms known associations of traditional cardiovascular risk factors with corneal arcus in an Asian population. Additionally, corneal arcus may be associated with systemic inflammatory markers, peripheral artery disease, and chronic kidney disease.
Topics: Acute-Phase Reaction; Adult; Aged; Aged, 80 and over; Anterior Eye Segment; Arcus Senilis; Asian People; Blood Glucose; C-Reactive Protein; Cholesterol; Cross-Sectional Studies; Female; Humans; Inflammation; Male; Middle Aged; Peripheral Vascular Diseases; Prevalence; Risk Factors; Singapore
PubMed: 20630492
DOI: 10.1016/j.ajo.2010.04.028 -
Clinica Chimica Acta; International... May 2010Autosomal Dominant Hypercholesterolemia (ADH) is an autosomal dominant disease caused by mutations in the low density lipoprotein receptor (LDLR), apolipoprotein B...
BACKGROUND
Autosomal Dominant Hypercholesterolemia (ADH) is an autosomal dominant disease caused by mutations in the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Xanthomas and coronary heart diseases (CHD) at an early age are the major clinical manifestations of the disease.
METHODS
16 families with familial hypercholesterolemia from different regions in Tunisia participated in the study. Mutations within the LDLR gene were screened through DNA sequencing. Lipids values were measured by standard enzymatic methods.
RESULTS
We present here thirty five homozygotes and fifty six heterozygotes. Homozygotes presented extensive xanthomatosis, variable clinical manifestations of CHD, and total cholesterol levels in males and females of 17.26+/-4.18 and 17.64+/-2.59 mmol/L respectively. HDL-cholesterol levels were 0.62+/-0.24 and 1.00+/-0.61 mmol/L for males and females, respectively. None of the heterozygotes had tendon xanthomas (except for one female aged 62), eight had corneal arcus, and nine developed CHD mean between 46 and 88 years old. Total cholesterol levels in males and females ranged from 4.60 to 8.90 and from 4.30 to 10.50 mmol/L, respectively.
CONCLUSION
Tunisian FH heterozygotes are characterized by a moderate clinical and biological expression of the disease.
Topics: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Arcus Senilis; Child; Child, Preschool; Cholesterol; Cholesterol, HDL; Cholesterol, LDL; Coronary Disease; Female; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Male; Middle Aged; Mutation; Receptors, LDL; Sex Characteristics; Triglycerides; Tunisia; Xanthomatosis; Young Adult
PubMed: 20144596
DOI: 10.1016/j.cca.2010.02.008 -
Acta Dermatovenerologica Alpina,... Dec 2009Familial hypercholesterolemia, a form of primary hyperlipoproteinemia, is an autosomal dominant disorder characterized by an increase in serum LDL cholesterol...
Familial hypercholesterolemia, a form of primary hyperlipoproteinemia, is an autosomal dominant disorder characterized by an increase in serum LDL cholesterol concentrations. Multiple types of xanthomas occur, such as tendinous, tuberous, subperiosteal, and xanthelasma. Intertriginous xanthomas are rare, but if present are pathognomonic in this disorder. We report a patient with multiple xanthomas including the very rare intertriginous variety.
Topics: Achilles Tendon; Aged; Arcus Senilis; Atherosclerosis; Humans; Hyperlipoproteinemia Type II; Hyperlipoproteinemias; Male; Xanthomatosis
PubMed: 20043058
DOI: No ID Found -
Current Aging Science Dec 2009Measures of biological age have not been proven to predict mortality. This study examines whether measuring biological age improves the prediction of mortality.
BACKGROUND
Measures of biological age have not been proven to predict mortality. This study examines whether measuring biological age improves the prediction of mortality.
METHODS
Prospective study from 1981 to 2001 of 397 male London Civil Servants. Two indices of biological ageing were calculated.
RESULTS
60 men died and both indices of biological ageing were related to survival. In a model that mutually adjusted for both chronological and biological age, biological age using index one was statistically significant with a hazard ratio (HR) of 1.11 per year of age (95% confidence interval 1.01 - 1.21, P=0.03). The useful components of the measures of biological ageing were systolic blood pressure (HR 1.31 for 1SD), albumin, and, to a lesser degree, Erythrocyte Sedimentation Rate (ESR). Greying of the hair, skin inelasticity, arcus senilis, and baldness were not predictors of mortality as measured by our methods. Similarly serum cholesterol, creatinine, calcium and urate could be excluded. A modified index was developed including systolic pressure, ESR, urea, albumin, and bilirubin and had a sensitivity of 78% and specificity of 51% in predicting subjects who died.
CONCLUSION
This study represents 'proof of principle' in demonstrating the utility and validity of measuring biological age. The modified index needs to be tested prospectively.
Topics: Age Factors; Aging; Alopecia; Arcus Senilis; Biomarkers; Blood Pressure; Chronobiology Phenomena; Hair Color; Health Status Indicators; Humans; London; Male; Predictive Value of Tests; Proportional Hazards Models; Prospective Studies; Reproducibility of Results; Risk Assessment; Risk Factors; Skin Aging; Smoking
PubMed: 20021413
DOI: 10.2174/1874609810902030193 -
The American Journal of the Medical... Oct 2009To delineate the association between corneal arcus and potential cardiovascular risk factors in middle-aged population.
BACKGROUND
To delineate the association between corneal arcus and potential cardiovascular risk factors in middle-aged population.
METHODS
This cross-sectional study randomly enrolled 119 subjects with corneal arcus and 119 subjects without arcus, aged between 30 and 60 years, from community-based East Asian population. Corneal arcus identification was completed by a single ophthalmologist using slit-lamp biomicroscopy examination. Cardiovascular risk factor parameters were measured by standardized techniques.
RESULTS
Subjects with higher levels of total-cholesterol, low-density lipoprotein cholesterol (LDL-C), non-high-density lipoprotein cholesterol (non-HDL-C), and total/HDL cholesterol ratio had increased risk of having corneal arcus, whereas subjects with higher systolic blood pressure (SBP) and diastolic blood pressure had decreased risk. Using stepwise logistic regression analysis, we found that male gender was a strong independent risk factor for arcus formation [odds ratio (OR): 2.87; 95% confidence interval (CI): 1.59-5.17; P < 0.001]. Higher non-HDL-C level also had significant but mildly increased risk (OR: 1.02; 95% CI: 1.01-1.02; P 0.008) of having arcus, whereas higher SBP had significant but mildly decreased risk (OR: 0.98; 95% CI: 0.96-0.99; P < 0.001). Besides, subjects who had circumferential arcus had significantly higher risk of having LDL-C >or=160 mg/dL than those who had only partial arcus (OR: 5.79 versus OR: 4.60; P < 0.001).
CONCLUSIONS
In addition to serum LDL-C, male gender and serum non-HDL-C level are significantly correlated to corneal arcus. Conversely, SBP is negatively correlated to corneal arcus. Presence of corneal arcus in middle-aged men may be an indicator for dyslipidemia, and we speculate that the relationship between arcus and coronary heart disease may be dependent of dyslipidemia.
Topics: Adult; Arcus Senilis; Cardiovascular Diseases; Case-Control Studies; Female; Humans; Male; Middle Aged; Risk Factors; Taiwan
PubMed: 19707111
DOI: 10.1097/MAJ.0b013e3181b2b25e -
Metabolism: Clinical and Experimental Oct 2009A 31-year-old man with no significant medical history presented with a 5-day history of progressive left upper quadrant abdominal pain. Physical examination revealed a...
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation.
A 31-year-old man with no significant medical history presented with a 5-day history of progressive left upper quadrant abdominal pain. Physical examination revealed a tender guarded abdomen, no icterus, and bilateral corneal "arcus senilis"-like changes. Laboratory workup showed a mild normocytic, normochromic anemia; and target cells were seen in the peripheral blood smear. Serum was turbid; and the lipid profile showed elevated total cholesterol, low high-density lipoprotein cholesterol, and elevated triglycerides. Urinalysis revealed nephrotic range proteinuria with microhematuria. An abdominal computed tomographic scan demonstrated a homogeneously enlarged spleen. The patient was discharged after symptomatic treatment to be followed as an ambulatory patient. Several days later, he returned with severe left upper quadrant pain and was admitted to the surgical service for further evaluation. A splenectomy was performed for a suspected splenic lymphoma. Upon gross examination, spleen was moderately enlarged, weighing 780 g. Sectioning revealed a beefy red cut surface without gross lesions. Wright-Giemsa-stained touch imprints showed many sea-blue histiocytes. A renal biopsy was also performed, demonstrating focal segmental glomerular sclerosis and mesangial expansion with extramembranous and intramembranous deposition of lipids. In the absence of hematologic malignancy and in light of the abnormal lipid profile, a disorder of lipid metabolism was suspected. Histologic and ultrastructural findings in the kidney and spleen raised the likelihood of lecithin-cholesterol acyltransferase (LCAT) deficiency, which was confirmed by the markedly decreased serum LCAT activity and serum LCAT mass. We describe a case with the triad of splenomegaly with sea-blue histiocytes, nephropathy, and dyslipidemia in a patient with LCAT deficiency.
Topics: Adult; Blood Cell Count; Dyslipidemias; Humans; Kidney; Kidney Diseases; Lecithin Cholesterol Acyltransferase Deficiency; Liver; Male; Microscopy, Electron, Transmission; Phosphatidylcholine-Sterol O-Acyltransferase; Sea-Blue Histiocyte Syndrome; Spleen; Splenomegaly; Tomography, X-Ray Computed
PubMed: 19592052
DOI: 10.1016/j.metabol.2009.04.033 -
Bratislavske Lekarske Listy 2009A 32-year-old man was transferred to our emergency service with the diagnosis of sudden cardiopulmonary arrest. During eye examination, a typical corneal arcus was...
A 32-year-old man was transferred to our emergency service with the diagnosis of sudden cardiopulmonary arrest. During eye examination, a typical corneal arcus was observed. The patient underwent the primary percutaneous coronary intervention. Coronary angiography showed a total occlusion of proximal left anterior descending artery. Primary coronary balloon angioplasty was successfully performed. Independently of total cholesterol, serum high-density lipoprotein cholesterol and smoking, corneal arcus has been suggested as a predictor of coronary heart disease among hyperlipidemic men. Physical examination can yield valuable diagnostic clues in a patient suspected of ischaemic heart disease. In summary, the appearance of corneal arcus in young adult men might be an indicator of severe coronary artery disease and should be screened by means of physical examination especially in the setting of cardiopulmonary arrest (Fig. 1, Ref. 4).
Topics: Adult; Arcus Senilis; Coronary Artery Disease; Heart Arrest; Humans; Hyperlipoproteinemia Type II; Male
PubMed: 20196475
DOI: No ID Found -
The American Journal of Cardiology Jan 2009Corneal arcus is a lipid-rich deposit at the corneoscleral limbus that shares some similarities with the lipid deposition of atherosclerosis. Epidemiologic studies... (Comparative Study)
Comparative Study
Corneal arcus is a lipid-rich deposit at the corneoscleral limbus that shares some similarities with the lipid deposition of atherosclerosis. Epidemiologic studies examining the association between corneal arcus and coronary artery disease (CAD) have yielded mixed results. This study was conducted to determine if corneal arcus is an independent risk factor for cardiovascular disease (CVD) and CAD. A prospective analysis was performed using Cox proportional-hazards regression models in the Framingham Heart Study Original Cohort and Offspring Cohort database. This cohort included 23,376 patient-examinations, during 3,890 (17%) of which corneal arcus was identified. Corneal arcus was a predictor of CVD and CAD at 4 years (hazard ratios [HRs] 2.28 and 1.99, respectively) and 8 years (HRs 2.52 and 2.35, respectively) of follow-up (p <0.0001 for all). Corneal arcus was no longer predictive of either CVD or CAD, however, after adjustment for age and gender at 4 years (HRs 1.07 and 1.01, respectively) and 8 years (HRs 1.18 and 1.17, respectively) of follow-up (p >0.05 for all). In conclusion, corneal arcus predicted CVD and CAD in the community-based Framingham Heart Study cohort because of the strong association of corneal arcus with increasing age. To date, this is the largest and lengthiest population-based cohort study examining the direct association between corneal arcus and CVD and CAD.
Topics: Adult; Arcus Senilis; Cholesterol; Coronary Artery Disease; Female; Follow-Up Studies; Humans; Incidence; Limbus Corneae; Male; Middle Aged; Prognosis; Prospective Studies; Risk Factors; United States
PubMed: 19101231
DOI: 10.1016/j.amjcard.2008.08.030 -
Archives of Gerontology and Geriatrics 1998The objective was to study the relationship of cardiovascular risk factors measured at different ages to all-cause mortality in a population-based sample of middle-aged...
The objective was to study the relationship of cardiovascular risk factors measured at different ages to all-cause mortality in a population-based sample of middle-aged Italian men over a 30-year period. Two rural populations of men aged 40-59 were examined in 1960 (n=1712, participation rate 98.8%). Cardiovascular disease risk factors measured at year 0, 10 and 20 were used for the multivariate prediction of all-cause mortality during 30, 20 and 10 years, respectively. In men aged 40-59 with follow-up of 30 years, age, systolic blood pressure, serum cholesterol, cigarette smoking, body mass index, arm circumference (inverse), vital status of father and mother, forced expiratory volume (inverse), arcus senilis and xanthelasma were strong, significant predictors of mortality. In men aged 50-69 followed for 20 years, age, systolic blood pressure, cigarette smoking, vital capacity (inverse), body mass index and arcus senilis were strong, significant predictors of mortality. In men aged 60-79 followed 10 years only age, arm circumference (inverse) and arcus senilis were significant predictors of mortality (respiratory measurements were not available). On two occasions body mass index and serum cholesterol showed curvilinear relationships with mortality (U-shaped). It is concluded that cardiovascular disease risk factors are strong predictors of all-cause mortality. Their predictive power (relative risk) declines with age. Some factors, such as body mass index and serum cholesterol level, show curvilinear relationship to mortality with greater age.
PubMed: 18653129
DOI: 10.1016/s0167-4943(97)00035-6