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)

Diabetes mellitus comprises a heterogeneous group of diseases which have chronic hyperglycaemia in common as well as the resulting microvascular, macrovascular and neurological complications of this condition. Familial studies have provided strong evidence for the existence of genetic determinants in the different types of diabetes. In particular, monozygotic twin studies have indicated a higher rate of concordance in non-insulin-dependent (NIDDM) than in insulin-dependent diabetes mellitus (IDDM). In IDDM, 8 susceptibility loci have been identified, notably the HLA complex and insulin promotor gene. Rigorous family studies have identified monogenic subtypes representing 10-15% of all NIDDM: MODY2 related to glucokinase gene mutations, MODY1 and MODY3 secondary to mutation of hepatic nuclear factors, and diabetes resulting from deletion or mutation of mitochondrial DNA. Most NIDDM result from polygenic heredity, and susceptibility genes conducive to increased receptivity to deleterious environmental influences are now under investigation, such as beta 3 adrenergic receptor, FABP2 and OB. Precise analysis of phenotypes in the remaining families or systematic screening of the genome could allow the genes of each subtype to be identified. Finally, susceptibility genes for the increased severity and frequency of vascular complications have been identified, such as angiotensin converting enzyme, aldose reductase and aldehyde dehydrogenase genes. This progress has been facilitated by developments in molecular biology.
 ...
PMID:Diabetes: from phenotypes to genotypes. 910 79

Genetic structure of Southern and Northern ethnographic groups of the Udmurt population from six regions of the Republic of Udmurtia has been studied. All the samples were examined using ten polymorphic DNA loci: VNTR/PAH, VNTR/ApoB, VNTR/DAT1, VNTR/eNOS, ACE, CCR5delta32, KM19, IVS6a, THOI, and FABP2. Allelic and genotype frequencies were estimated for each of the six populations. The average heterozygosity for these ten polymorphic loci varied from 0.47 in Udmurts from Glazovskii region to 0.53 in Udmurts from Malopuginskii region. The level of genetic variation (F(ST)) between populations of Udmurts was 0.0048. Ethnographic subdivision of the population into Northern and Southern Udmurts is in good agreement with the values of genetic distances and phylogenetic analysis.
 ...
PMID:[Population study of the Udmurt population: analysis of ten polymorphic DNA loci of the nuclear genome]. 1763 63

Emerging evidence suggests that physical activity and sedentary behavior [reflected in physical inactivity (PI)], might be two different phenotypes that may have distinct underlying physiological mechanisms. The purpose of this review is to summarize the existing literature on the genetic determinants of PA and PI phenotypes in humans, considering them as distinct behaviors. Completed in January 2011, this review includes family studies, twin studies, association studies, genome-wide linkage studies and genome-wide association scan (GWAs) reporting different physical activity/inactivity-related phenotypes. In regards to PA, familial aggregation studies resulted in heritability estimates ranging from 0 to 60 %, and twin studies yielded heritability estimates (a(2)) and shared environment (c(2)) scores for PA phenotypes ranging from 0.00 to 0.85 and 0.00 to 0.84, respectively. Unique environmental (e(2)) results are well dispersed from 0.12 to 0.72. Suggestive linkages were found with markers nearby different activity-related genes: EDNRB, MC4R, UCP1, FABP2, CASR, SLC9A9. Significant associations with PA phenotypes were found for Ace, Gln223ARrg, MC4R and DRD2 genes. We found one GWAs that reported novel SNPs in the PAPSS2 gene on chromosome 10q23.2 and in two intergenic regions on chromosomes 2q33.1 and 18p11.32. Heritability estimates for PI ranged from 25 to 60 % and linkage studies recorded higher LOD scores for PI versus PA. The ACE genotype was strongly associated with PI. There are potentially different genetic influences on PA versus PI phenotypes. Future studies should focus on the different genetic influences on PA and PI to improve our understanding of underlying determinants of these behaviors.
 ...
PMID:Genetics of physical activity and physical inactivity in humans. 2242 82

Diabetic dyslipidemia is one of the leading causes of coronary artery disease (CAD) death. Genetic and environmental factors play an important role in the development of type 2 diabetes mellitus (T2DM) and dyslipidemia. The present study was aimed to investigate the association of ACE (rs4646994), FABP2 (rs1799883), MTHFR (rs1801133) and FTO (rs9939609) genes polymorphism in T2DM with dyslipidemia. Totally, 559 subjects including 221 T2DM cases with dyslipidemia, 158 T2DM without dyslipidemia and 180 controls were enrolled. ACE genes polymorphism was evaluated by polymerase chain reaction (PCR), while MTHFR, FABP2, FTO genes polymorphisms were evaluated by PCR and restriction fragment length polymorphism (RFLP). Significant association of ACE and MTHFR genes polymorphisms were found in both group of cases [T2DM with dyslipidemia (P<0.001, and P=0.008, respectively) and T2DM without dyslipidemia (P=0.003, and P=0.010, respectively)] while FABP2 and FTO genes polymorphisms were significantly associated with T2DM without dyslipidemia (P=0.038, and P= 0.019, respectively). This study concludes that ACE, FABP2, FTO and MTHFR genes are associated with T2DM. Additionally, it also seems that ACE and MTHFR genes might be further associated with the development of dyslipidemia in T2DM cases.
 ...
PMID:Association between ACE (rs4646994), FABP2 (rs1799883), MTHFR (rs1801133), FTO (rs9939609) Genes Polymorphism and Type 2 Diabetes with Dyslipidemia. 2889 Aug 88