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ABSTRACT: The relationship between dietary composition and plasma lipids is to some extent genetically determined. It has been found that variants of some genes (e.g., apolipoprotein E and cholesterol 7-alpha hydroxylase) play an important role in changes in plasma lipid levels in response to dietary intervention. We analyzed the effect of variation in the apolipoprotein (APO) APOA1/C3/A4/A5 gene cluster on decreases in plasma cholesterol levels over an 8-year follow-up study.
Men (n=133) from the Czech population, for which dietary composition has markedly changed (red meat 80-->68 kg/person/year, animal fat 16-->9 kg/person/year, fruits and vegetables 133-->150 kg/person/year) were recruited. APOA1 (G-75>A and C83>T), APOC3 (C-482>T and C3238>G), APOA4 (Thr347>Ser and Gln360His) and APOA5 (T-1131>C, Ser19>Trp and Val153>Met) variants were analyzed by PCR and restriction analysis. Lipid levels were analyzed in 1988 and 1996. Dietary information was obtained from the Institute of Agricultural Economy.
In APOA5 Ser19Ser homozygotes (n=105), plasma cholesterol was relatively stable over the years (6.1+/-1.3 and 5.6+/-1.0 mmol/L in 1988 and 1996), but the decrease was much higher in Trp19 carriers (n=27; 6.5+/-1.6 vs. 5.1+/-1.1 mmol/L). This difference in change is significant at p<0.005. Similarly, a better response to dietary changes was detected in carriers of the common APOA4 haplotypes Thr-347Thr/Gln360Gln and Thr347Ser/Gln360Gln (n=102; 6.3+/-1.3 and 5.5+/-1.1 mmol/L in 1988 and 1996, p<0.001). Total cholesterol was relatively stable over time in carriers (n=18) of at least one His360 allele and/or two Ser347 alleles (5.7+/-1.1 and 5.5+/-0.9 mmol/L in 1988 and 1996, n.s.). Other variants analyzed did not influence the change in lipid measurements over time.
APOA4 and APOA5 variants may play an important role in the individual sensitivity of lipid parameters to dietary composition in men.
Clinical Chemistry and Laboratory Medicine 02/2007; 45(3):316-20. · 2.15 Impact Factor
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ABSTRACT: The aim of this study was to examine whether variants in genes for transforming growth factor beta1 (TGF-beta1; Leu10>Pro and Arg25>Pro), plasminogen activator inhibitor 1 (PAI-1; 4G>5G variant) and collagen 1 (COL1A1; Sp1 variant) may be useful in identifying individuals with increased susceptibility to early postmenopausal bone loss within the population of Czech women.
Polymorphisms were genotyped (by PCR and restriction analysis) in 1400 females representatively selected from the Czech population as well as in 218 postmenopausal osteoporotic women 40-70 years of age (mean age 58,7 years) and a 151 postmenopausal females within the same age range (mean age 59,1 years) with normal BMD.
We have not found any statistically significant differences in the frequency of individual genotypes or alleles of analyzed variants between the groups of osteoporotic patients (OP), population group (PG) and control group (CG). The frequency of the individual genotypes in the analyzed groups was as follows 1) TGF-beta1 gene: Leu10Leu10 OP 30.2 %, PG 35.6 %, CG 35.1 %; Leu10Pro10 OP 52.1 %, PG 47.1 %, CG 50.0 %; Pro10Pro10 OP 17.7 %, PG 17.3 %, CG 14.9 %; 2) TGF-beta1 gene Arg25 homozygotes OP 83.8 %, PG 86.1%, CG 89.3 %, Pro25 carriers OP 16.2 %, PG 13.9 %, CG 10.7 %, 3) PAI-1 gene: 4G4G OP 34.9 %, PG 31.8, CG 28.5 %, 5G4G OP 43.6 %, PG 46.7 %, CG 50.3 %, 5G5G OP 21.5 %, PG 21.5%, CG 21.2%, and 4) COL1A-1 ("SS" homozygotes, OP 63.0%, PG 63.7%, CG 64.6 %, "s" carriers OP 37.0 %, PG 36.3 %, CG 35.1 %).
Variants in genes for TGF-beta1 (Leu10>Pro and Arg25>Pro), PAI-1 (4G>5G) and COL1A1 (Sp1 variant) are not associated with low BMD in postmenopausal Czech Caucasian females.
Endocrine regulations 01/2007; 40(4):107-12.
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ABSTRACT: The aim of this study was to examine whether the variants in genes for transforming growth factor beta1 (TGF-beta1; Leu10>Pro and Arg25>Pro), plasminogen activator inhibitor 1 (PAI-1; 4G>5G variant) and collagen -1 (COL1A-1; Sp1 variant) may be useful in identifying individuals with increased susceptibility to early postmenopausal bone loss within the population of Czech women.
Polymorphisms were genotyped (by PCR and restriction analysis) in 1400 females representatively selected from the Czech population as well as in 218 postmenopausal osteoporotic women 40-70 years of age (mean age 58.7 years) and a 151 control group of postmenopausal females in the same age range (mean age 59.1 years) with normal BMD.
We have not found any statistically significant differences in the frequency of the individual genotypes or alleles of analyzed variants between the groups of osteoporotic patients (OP), population group (PG) and control group (CG). The frequencies of the individual genotypes in the analyzed groups were as follows - 1) TGF-beta1 gene: Leu10Leu10 OP - 30.2%, PG - 35.6%, CG 35.1%; Leu10Pro10 OP - 52.1%, PG - 47.1%, CG 50.0%; Pro10Pro10 OP - 17.7%, PG - 17.3%, CG 14.9%; 2) TGF-beta1 gene Arg25 homozygotes OP - 83.8%, PG - 86.1%, CG - 89.3%, Pro25 carriers OP - 16.2%, PG - 13.9%, CG - 10.7%, 3) PAI-1 gene: 4G4G OP - 34.9%, PG - 31.8, CG - 28.5%, 5G4G OP - 43.6%, PG - 46.7%, CG - 50.3%, 5G5G OP - 21.5%, PG - 21.5%, CG - 21.2%, and 4) COL1A-1 ("SS" homozygotes, OP - 63.0%, PG - 63.7%, - CG 64.9%, "s" carriers OP - 37.0%, PG - 36.3%, CG - 35.1%).
Variants in genes for TGF-beta1 (Leu10>Pro and Arg25>Pro), PAI-1 (4G>5G) and COL1A-1 (Sp1 variant) are not associated with low BMD in postmenopausal Czech Caucasian females.
Endocrine regulations 10/2006; 40(3):77-81.
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Nutrition Metabolism and Cardiovascular Diseases 01/2006; 15(6):450-1. · 3.73 Impact Factor
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Metabolism 10/2005; 54(9):1266-7; author reply 1267. · 2.66 Impact Factor
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Clinical Chemistry 08/2005; 51(7):1311-3. · 7.91 Impact Factor
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ABSTRACT: The important role of APOAV gene T-1131>C variant in determination of plasma triglyceride levels has been proved on many population studies. Recently, associations between C-1131 allele and higher mother's height as well as with longer fetal birth length were suggested. In 1,305 females, aged between 28 and 67 years and having at least one child, we have analyzed a putative association between T-1131>C APOAV variant (analyzed by PCR and restriction analysis) and body height. Mother's body height did not differ between T/T homozygotes (N = 1093, 162.5 +/- 6.5 cm) and C allele carriers (N = 212, 162.1 +/- 6.4 cm). Thus we have failed to confirm, that mothers with APOAV C-1131 allele are higher than T/T-1131 homozygotes.
Lipids in Health and Disease 06/2004; 3:10. · 2.17 Impact Factor
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ABSTRACT: The importance of an apolipoprotein AV (apoAV) gene for plasma triglyceride (TG) level determination has been shown on transgenic and knockout mice. The influence of apoAV polymorphisms (T-1131/C and Ser19/Trp) on plasma TG levels was evaluated in a representative sample of 1191 men and 1368 women, in 435 patients with myocardial infarction (MI) and in 83 individuals with extreme TG levels (20.4+/-12.8 mmol/L).
ApoAV variants were analyzed using polymerase chain reaction and restriction analysis.
T-1131/C variation in the apoAV gene affects plasma TG levels, showing a higher level in C-1131 carriers than in T/T-1131 homozygotes. This association has been observed both in men (P<0.05) and in women (P<0.01). TG levels were also influenced by the Ser19/Trp apoAV genotypes. In both males and females, the Trp19 carriers have higher plasma TGs (P<0.01) than do Ser19 homozygotes. In hypertriglyceridemic patients, the frequency of carriers of the T/C-1131 and C/C-1131 genotypes (32.5% versus 15.4%, P<0.0001) and Ser/Trp19 and Trp/Trp19 genotypes (30.1% versus 14.1%, P<0.0001) was much higher than in the population sample. In a group of MI patients (n=435), the frequency of the disadvantageous homozygous genotypes, with their effect of increasing the TG concentration (C/C-1131 and/or Trp/Trp19), was significantly higher than in the population sample (7.4% versus 2.0%, P<0.00001).
Variation(s) in the apoAV gene play an important role in the genetic determination of plasma TG levels and influence the risk of MI.
Experimental and clinical cardiology 01/2003; 8(3):151-4. · 0.58 Impact Factor
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ABSTRACT: The CD14 receptor is a myeloid cell-specific receptor, which plays a role in host defense and cell stimulation. CD14 positive cells have been detected in lung, and also in brain, and the CD14 receptor is thought to play a role in asthma and allergy reactions. C-159-->T polymorphism in the promoter of the CD14 gene has been associated with myocardial infarction, but not in all studies. Our goal was to establish whether this polymorphism is associated with some of the risk factors of MI.
With PCR and subsequent restriction analysis we evaluated C-159-->T polymorphism in the CD14 gene in 135 representative selected male Caucasians.
We detected a significantly higher frequency of T/T homozygotes (p<0.025) in subjects who had never smoked (15 of 60, 25.0%) as compared to smokers and past smokers (6 of 75, 8.0%).
The C-159-->T polymorphism in the CD14 gene could be a genetic marker associated with smoking dependence, but confirmation in a large population study is necessary.
Medical science monitor: international medical journal of experimental and clinical research 05/2002; 8(5):BR172-4. · 1.70 Impact Factor
