Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.15.1 (ACE)
 18,300 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A multilocus assay was used to genotype up to 27 variable sites in 15 genes in French and Italian, presumed to be healthy populations (n=1480, n=162, respectively). These genes are involved in lipid metabolism (APOE, APOB, APOC3, CETP, LPL, PON), homocysteine metabolism (CBS, MTHFR), blood viscosity (Fibrinogen, FV), platelet aggregation (GpIIIa), leukocyte adhesion (SELE), and renin-angiotensin system (AT1R, ACE, AGT). Allele frequencies for all the markers were compared between the two populations. Five allele frequencies differed between the two European countries: APOB 71Ile (p < 0.001), SELE 98T (p < 0.001), SELE 128Arg (p < or = 0.01), APOE E4 (p < or = 0.01) and MTHFR 677T (p < or = 0.01), suggesting the existence of a north-south gradient in European allele frequencies. The other allele frequencies : APOC3 -482T, -455C, 1100T, 3175G, 3206G; LPL -93G, 9Asn, 291Ser; CETP 405Val; PON 192Arg; ACE Del; AGT 235Thr; AT1R 1166C; CBS 278Thr, GpIIIa P1A2; Fibrinogen -455A, FV 506Gln and SELE 554Phe, were similar between the two populations. They were also similar to those observed in other European countries.
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PMID:Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies between a French and an Italian population. 1134 49

The contribution of 17 polymorphisms within 13 candidate genes on lipid trait variability was investigated by a multiplex assay in 772 men and 780 women coming for a health checkup examination. The studied genes were APOE, APOB, APOC3, CETP, LPL, PON, MTHFR, FGB, GpIIIa, SELE, ACE, and AGT. We found that APOB-Thr71Ile, APOE-(112/158), APOC3-1100C/T, and SELE-98G/T polymorphisms had a significant effect on lipid traits (P < or = 0.001 to P < or = 0.01). Genetic effects accounted for 3.5-5.7% of variation in apolipoprotein B (apoB)-related traits among men, and for 5.7-9.0% among women. The contribution of APOE polymorphism on apoB-related traits variability was two to three times more important in women than in men. We found suggestive evidence for interactive effects between genetics and age, smoking status, and oral contraceptives. Increase of LDL-cholesterol and apoB concentrations with age was stronger among the epsilon4 carriers in women, and apolipoprotein A-I (apoA-I) concentration decreased with age in epsilon4 male carriers. The effect of epsilon2 allele on LDL-cholesterol was more important in the oral contraceptive users. In nonsmokers only, the APOC3-1100C allele in women was related to lower apoB-related traits concentrations, and in men to higher apoA-I and HDL-cholesterol concentrations. In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability.
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PMID:Genetic influences on lipid metabolism trait variability within the Stanislas Cohort. 1171 57

In an electronic search of the literature, the authors systematically retrieved all published studies that investigated genetic susceptibility to peripheral arterial disease (PAD). They created a comprehensive database of all eligible studies, collecting detailed genetic and bioinformatics data on each polymorphism. Data from eligible studies were synthesized using meta-analysis techniques. Gene variants were classified into distinct pathophysiologic pathways, and their potential involvement in PAD pathogenesis was determined. Forty-one publications that examined 44 gene polymorphisms were included. For 37 polymorphisms, the variant form had a functional effect. Twenty-three polymorphisms in 22 potential PAD candidate genes (F2, FGB, MTHFR, ITGB3, ACE, AGT, IL6, CCL2, ICAM1, SELE, MMP9, PPARG, MMP1, ADD1, P2RY12, LIPC, PLA2G7, SCARB1, MMP3, MTTP, LPA, CHRNA3) showed a significant association in individual studies. Eighty-eight percent of the studies had statistical power of less than 50%, and in 15 studies the genotype distribution in the control group did not conform to Hardy-Weinberg equilibrium. Data on 12 polymorphisms (F5 1691 G/A, MTHFR 677C/T, F2 20210 G/A, ITGB3 1565 T/C, ACE I/D, AGT 704C/T, AGT -6G/A, AGT 733C/T, IL6 -174 G/C, MMP9 -1562C/T, ICAM1 1462A/G, CHRNA3 831C/T) were synthesized, and a positive association was found for 3 (IL6 -174 G/C, ICAM1 1462A/G, CHRNA3 831C/T).
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PMID:A field synopsis and meta-analysis of genetic association studies in peripheral arterial disease: The CUMAGAS-PAD database. 1943 65