Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.44 (AGT)
 770 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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).
 ...
PMID:A field synopsis and meta-analysis of genetic association studies in peripheral arterial disease: The CUMAGAS-PAD database. 1943 65

Small intestinal atresia (SIA) is a rare congenital occlusion of the small intestine. SIA development, particularly in the jejunum and ileum, has been associated with in utero disruption of vascular supply. However, the number of studies of the vascular hypothesis is limited. This study considers the vascular hypothesis by exploring risks associated with 32 SNPs of genes involved in vascular processes of homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. A total of 206 SIA cases were ascertained by the California Birth Defects Monitoring Program, and 573 infants with no major congenital anomalies by their first birthday were selected as controls. Genomic DNA was genotyped for 32 SNPs involving the following genes: MTHFR, F2, F5, F7, SERPINE1, FGB, ITGA2, ITGB3, SELE, ICAM1, MMP3, TNF, LTA, NOS3, AGTR1, AGT, NPPA, ADD1, SCNN1A, GNB3, and ADRB2. Risks were estimated as odds ratios, adjusted for maternal age and race, with 95% confidence intervals. Cases were considered collectively and by subgroups based on atresia location (duodenal/jejunum/ileum). Three SNPs had reduced risk: SERPINE1 11053 T/G, MMP3 (-1171) A6/A5, and ADRB2 gln27glu. Two had increased risk: ITGA2 873 G/A and NPPA 2238 T/C. No intestinal subphenotypes showed a unique pattern of SNP associations. The association of two SNPs with increased risk lends some, albeit limited, support to vascular impairment as a possible mechanism leading to SIA. These results also identify genes meriting further exploration in SIA studies. Hence, this study makes an important contribution by exploring the long-held but not well-investigated vascular hypothesis.
 ...
PMID:Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors. 2344 56