Association between FTO 1st intron tagging variant and telomere length in middle aged females. 3PMFs study.

Since 2007, the year of their first widespread use, genome-wide association studies (GWAS) have become the "gold standard" for the detection of causal genes and polymorphisms in all fields of human medicine. Cardiovascular disease (CVD), one of the major causes of morbidity and mortality, is no exception. The first GWAS focused on hypercholesterolemia and dyslipidemia as the major CVD determinants. GWAS confirm the importance of most of the previously identified genes (e.g. APOE, APOB, LDL-R) and recognize the importance of new genetic determinants (e.g. within the CILP2 or SORT1 gene clusters). Nevertheless, the results of GWAS still require confirmation by independent studies, as interethnic and interpopulation variability of SNP effects have been reported. We analyzed an association between eight variants within seven through GWAs detected loci and plasma lipid values in the Czech post-MONICA population sample (N=2,559). We confirmed an association (all P<0.01) between plasma LDL-cholesterol values and variants within the CILP2 (rs16996148), SORT1 (rs646776), APOB (rs693), APOE (rs4420638) and LDL-R (rs6511720) genes in both males (N=1,194) and females (N=1,368). In contrast, variants within the APOB (rs515135), PCSK9 (rs11206510) and HMGCoAR (rs12654264) genes did not significantly affect plasma lipid values in Czech males or females. Unweighted gene score values were linearly associated with LDL-cholesterol values both in males (P<0.0005) and females (P<0.00005). We confirmed the effects of some, but not all analyzed SNPs on LDL-cholesterol levels, reinforcing the necessity for replication studies of GWA-detected gene variants.

/pdf/polygenic-hypercholesterolemia-examples-of-gwas-results-and-33c9nlblta.pdf

Polygenic hypercholesterolemia: examples of GWAS results and their replication in the Czech-Slavonic population.

Statins are the most commonly used drugs in patients with dyslipidemia. Among the patients, a significant inter-individual variability with supposed strong genetic background in statin treatment efficacy has been observed. Genome wide screenings detected variants within the CELSR2/PSRC1/SORT1, CILP2/PBX4, APOB, APOE/C1/C4, HMGCoA reductase, LDL receptor and PCSK9 genes that are among the candidates potentially modifying response to statins. Ten variants (SNPs) within these genes (rs599838, rs646776, rs16996148, rs693, rs515135, rs4420638, rs12654264, rs6511720, rs6235, rs11206510) were analyzed in 895 (46 % men, average age 60.3+/-13.1 years) patients with dyslipidemia treated with equipotent doses of statins (~90 % on simvastatin or atorvastatin, doses 10 or 20 mg) and selected 672 normolipidemic controls (40 % men, average age 46.5 years). Lipid parameters were available prior to the treatment and after 12 weeks of therapy. Statin treatment resulted in a significant decrease of both total cholesterol (7.00+/-1.53-->5.15+/-1.17 mmol/l, P 1.65+/-1.23 mmol/l, P<0.0005). Rs599838 variant was not detected in first analyzed 284 patients. After adjustment for multiple testing, there was no significant association between individual SNPs and statin treatment efficacy. Only the rs4420638 (APOE/C1/C4 gene cluster) G allele carriers seem to show more profitable change of HDL cholesterol (P=0.007 without and P=0.06 after adjustment). Results demonstrated that, although associated with plasma TC and LDL cholesterol per se, variants within the CELSR2/PSRC1/SORT1, CILP2/PBX4, APOB, APOE/C1/C4, HMGCoA reductase, LDL receptor and PCSK9 genes do not modify therapeutic response to statins.

/pdf/impact-of-variants-within-seven-candidate-genes-on-statin-2pz0452u9e.pdf

Impact of variants within seven candidate genes on statin treatment efficacy.

Gene variants at FTO, 9p21, and 2q36.3 are age-independently associated with myocardial infarction in Czech men.

Is there any impact of variants within seven candidate genes on statin treatment efficacy

Myocardial infarction (MI) is the leading cause of death in industrialized countries. All the classical risk factors for MI are responsible for ap- proximately 50 % of MI cases. Attention has there- fore recently been attracted to those genetic variants that are not associated with conventional risk factors. One of them is the marker rs10757274 in the "gene- free" zone on chromosome 9, which has been repeat- edly recognized as a risk factor for development of MI in Western populations. We analysed the relation- ship between the rs10757274 variant on chro moso- me 9 and risk of the acute coronary syndrome (ACS) in Czech population. The rs10757274 (A > G) variant was successfully analysed (CR = 99.4 % for patients and 98.4 % for controls) by PCR-RFLP in consecu- ReceivedFebruary�13,�2012.��AcceptedMarch�15,�2012.

/pdf/association-between-a-marker-on-chromosome-9-and-acute-2p45kut572.pdf

Association between a marker on chromosome 9 and acute coronary syndrome. confirmatory study on Czech population.

The apoprotein E gene ranks among the most discussed candidate genes for cardiovascular disease. We studied whether the association between apoprotein E gene polymorphism and manifestation of acute coronary syndrome is modulated by the presence/absence of traditional cardiovascular risk factors. The population under study were 1066 pa- tients (men under 65 years) admitted between 2006- 2009 to five coronary care units in Prague (GENetic DEtermination of Myocardial Infarction in Prague) and the control population (1066 age-matched men selected from the Czech population sample). The fre- quency of disadvantage genotype E4 + was signifi- cantly higher (P < 0.01) in acute coronary syndrome patients (22.38 %) than in controls (16.76 %). When the acute coronary syndrome group was step by step limited to non-smokers, non-diabetics and normo- tensive individuals, the odds ratio displayed a gradu- al increase from 1.35 (for the entire group) through 1.48 (non-smokers), 1.53 (non-smokers+non-diabet- ics) to 1.71 (non-smokers+non-diabetics+normoten- sives). The effect of the apoprotein E gene on the individual risk of acute coronary syndrome is non- homogenous within the patient groups. This associa- tion of apoprotein E gene with acute coronary syn- drome is strongly modified by the presence/absence of traditional cardiovascular factors of atherosclero- sis in a high-risk Czech population.

http://fb.cuni.cz/data/files/folia_biologica/volume_56_2010_5/fb2010a0030.pdf

Why we are not able to find the coronary heart disease gene - apoE as an example.

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Association between a marker on chromosome 9 and acute coronary syndrome. confirmatory study on Czech population.

Why we are not able to find the coronary heart disease gene - apoE as an example.