Fibrillin-1 genotype and risk of prevalent hypertension: A study in two independent populations

Abstract Objective. Mutations in the fibrillin-1 gene are the cause of Marfan syndrome. We wanted to investigate the relationship between a mutation in this gene and risk of prevalent hypertension. Methods. In a cross-sectional study, the effect of a G-A substitution in intron 27 in the fibrillin-1 gene (rs11856553) on risk of prevalent hypertension was studied in two large population-based studies: the Health 2006 study, consisting of 3193 women and men, age 18-69 years, and the MONICA10 study, consisting of 2408 women and men, age 41-72 years. In 1646 MONICA10 participants, blood pressure (BP) was also measured by 24-h ambulatory recordings. Results. Among the 3193 Health 2006 participants 23 had the G-A variant, and among the 2408 MONICA10 participants 18 had the G-A variant. In Health 2006, the odds ratio estimate (95% confidence intervals) for the G-A variant for risk of hypertension, defined as systolic (S) BP ≥?140 mmHg or diastolic (D) BP ≥?90 mmHg or on antihypertensive medicine, was 2.67 (1.14-6.18), p =?0.022. The corresponding figure for moderate to severe hypertension, defined as SBP ≥?160 mmHg or DBP ≥?100 mmHg, was 9.68 (4.24-22.12), p 相似文献   

Genetic variation in the natriuretic Peptide system, circulating natriuretic Peptide levels, and blood pressure: an ambulatory blood pressure study

BackgroundIn a large collaborative study (n > 50,000), common variants in the natriuretic peptide (NP) genes were found to be associated with circulating NP levels and also with blood pressure (BP) levels based on office BP measurements (OBPMs). It is unknown if determining an individual's BP by 24-h ambulatory BP measurements (ABPMs) will influence the effect of NP gene variations on BP levels.MethodsWe used rs632793 at the NPPB (NP precursor B) locus to investigate the relationship between genetically determined serum N-terminal pro-brain NP (NT-proBNP) concentrations and BP levels determined by both 24-h ABPMs and OBPMs in a population consisting of 1,397 generally healthy individuals taking no BP-lowering drugs.Resultsrs632793 was significantly correlated with serum Nt-proBNP levels (r = 0.10, P = 0.0003), and participants with the A:A genotype had lower serum Nt-proBNP levels than participants with the G:G genotype (geometric mean (95% confidence interval (CI)): 34.8 (31.5-38.4) pg/ml vs. 48.1 (41.9-55.3) pg/ml, P = 0.0002), but higher 24-h ambulatory BP levels (mean difference (95% CI): 2.0 (0.1-4.1) mm Hg, P = 0.043, for systolic BP and 1.7 (0.4-3.1) mm Hg, P = 0.011, for diastolic BP). Office BP decreased across the genotypes from A:A to G:G, but the differences did not reach statistical significance (P ≥ 0.12).ConclusionsThis study suggests that 24-h ABPMs is a better method than OBPMs to detect significant differences in BP levels related to genetic variance and provides further evidence that the NP system plays an important role in BP regulation.American Journal of Hypertension 2012; doi:10.1038/ajh.2012.96.     

Robotic-assisted simple prostatectomy with clamping of bilateral hypogastric arteries

To present a case of laparoscopic robotic-assisted simple prostatectomy with temporary clamping of the bilateral hypogastric arteries. A 74-year-old patient with large prostatic adenoma (> 80 ml) underwent robotic-assisted laparoscopic transvesical adenoma enucleation according to Sotelo’s technique. The hypogastric arteries were isolated just below the ureteral cross with the iliac vessels and bilaterally occluded for 12 minutes during enucleation of the adenoma. The patient’s pain was mild after surgery and he required short-term analgesics and antibiotic prophylaxis. Blood loss was 80 ml. The transient occlusion of the internal iliac arteries is a proven maneuver to reduce bleeding during pelvic surgery. We propose the temporary clamping of the bilateral internal iliac arteries as a safe and rapid surgical maneuver to reduce the intraoperative risk of bleeding, especially when performing first procedures.     

Microevolution and patterns of dissemination of the JP2 clone of Aggregatibacter (Actinobacillus) actinomycetemcomitans

The natural history, microevolution, and patterns of interindividual transmission and global dissemination of the JP2 clone of Aggregatibacter (Actinobacillus) actinomycetemcomitans were studied by population genetic analysis. The JP2 clone is strongly associated with aggressive periodontitis in adolescents of African descent and differs from other clones of the species by several genetic peculiarities, including a 530-bp deletion in the promoter region of the leukotoxin gene operon, which results in increased leukotoxic activity. Multilocus sequence analysis of 82 A. actinomycetemcomitans strains, 66 of which were JP2 clone strains collected over a period of more than 20 years, confirmed that there is a clonal population structure with evolutionary lineages corresponding to serotypes. Although genetically highly conserved, as shown by alignment of sequences of eight housekeeping genes, strains belonging to the JP2 clone had a number of point mutations, particularly in the pseudogenes hbpA and tbpA. Characteristic mutations allowed isolates from individuals from the Mediterranean area and from West Africa, including the Cape Verde Islands, to be distinguished. The patterns of mutations indicate that the JP2 clone initially emerged as a distinct genotype in the Mediterranean part of Africa approximately 2,400 years ago and subsequently spread to West Africa, from which it was transferred to the American continents during the transatlantic slave trade. The sustained exclusive colonization of individuals of African descent despite geographical separation for centuries suggests that the JP2 clone has a distinct host tropism. The colonization of family members by JP2 clone strains with unique point mutations provides strong evidence that there is intrafamilial transmission and suggests that dissemination of the JP2 clone is restricted to close contacts.