Publications by authors named "Lisa D Bloomer"

Objective: Amongst middle-aged men, haplogroup I is associated with ≈ 50% higher risk of coronary artery disease than other paternal lineages of Y chromosome. We hypothesised that carriers of haplogroup I had higher levels of aggression and estrogens and/or lower levels of androgens early in life and thus might be more prone to cardiovascular disease than men with other lineages of Y chromosome.

Methods: We reconstructed phylogenetic tree of the Y chromosome in >1000 young apparently healthy white men from the general population.

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Article Synopsis
  • Urotensin-II is believed to regulate blood pressure and kidney function, prompting researchers to investigate the impact of genetic variants in its pathway on human health among 2,024 individuals from 520 families and further in 420 families and 7,545 unrelated subjects.
  • The study found that a specific genetic variant (rs531485) was linked to kidney filtration rates in the initial group but not in the larger combined group of participants, and no notable differences in urotensin-II expression were observed between those with high and normal blood pressure.
  • Evolutionary analysis indicated that the urotensin-II system may have evolved towards losing its function in primates, suggesting that these genes do not significantly influence
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Objective: Haplogroup I of male-specific region of the human Y chromosome is associated with 50% increased risk of coronary artery disease. It is not clear to what extent conventional cardiovascular risk factors and genes of the male-specific region may explain this association.

Approach And Results: A total of 1988 biologically unrelated men from 4 white European populations were genotyped using 11 Y chromosome single nucleotide polymorphisms and classified into 13 most common European haplogroups.

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The abdominal aortic aneurysm (AAA) is a permanent, localised, dilation of the abdominal aorta that causes death in 80% of patients if left untreated. An apparent male predominance in AAA has been observed in most studies, with a male: female gender ratio of ∼6:1 between the ages 60 years-64 years. The majority of risk factors for AAA exhibit sexual dimorphism but no single risk factor shows a higher magnitude of "male disadvantage" than AAA itself.

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Background: A sexual dimorphism exists in the incidence and prevalence of coronary artery disease--men are more commonly affected than are age-matched women. We explored the role of the Y chromosome in coronary artery disease in the context of this sexual inequity.

Methods: We genotyped 11 markers of the male-specific region of the Y chromosome in 3233 biologically unrelated British men from three cohorts: the British Heart Foundation Family Heart Study (BHF-FHS), West of Scotland Coronary Prevention Study (WOSCOPS), and Cardiogenics Study.

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Variants in the gene encoding the γ-subunit of the epithelial sodium channel (SCNN1G) are associated with both Mendelian and quantitative effects on blood pressure. Here, in 4 cohorts of 1611 white European families composed of a total of 8199 individuals, we undertook staged testing of candidate single-nucleotide polymorphisms for SCNN1G (supplemented with imputation based on data from the 1000 Genomes Project) followed by a meta-analysis in all of the families of the strongest candidate. We also examined relationships between the genotypes and relevant intermediate renal phenotypes, as well as expression of SCNN1G in human kidneys.

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