Evidence map›Paper›PMID 19715579›Full record

ArticleBMC medical genetics2009

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

Evelina Mocci, Maria P Concas, Manuela Fanciulli, Nicola Pirastu, Mauro Adamo, Valentina Cabras, Cristina Fraumene, Ivana Persico, Alessandro Sassu, Andrea Picciau and 5 more

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 12 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

15 authors at 1 institution in 1 country.

Evelina MocciShardna Life Sciences, Pula, Cagliari, Italy. mocci@shardna.it
Maria P Concas
Manuela Fanciulli
Nicola Pirastu
Mauro Adamo
Valentina Cabras
Cristina Fraumene
Ivana Persico
Alessandro Sassu
Andrea Picciau
Dionigio A Prodi
Donatella Serra
Ginevra Biino
Mario Pirastu
Andrea Angius
Sardegna Ricerche (Italy) · IT

Funding

Telethon E.1185
6 · The paper itself

Abstract

backgroundA multiplicity of study designs such as gene candidate analysis, genome wide search (GWS) and, recently, whole genome association studies have been employed for the identification of the genetic components of essential hypertension (EH). Several genome-wide linkage studies of EH and blood pressure-related phenotypes demonstrate that there is no single locus with a major effect while several genomic regions likely to contain EH-susceptibility loci were validated by multiple studies.

methodsWe carried out the clinical assessment of the entire adult population in a Sardinian village (Talana) and we analyzed 16 selected families with 62 hypertensive subjects out of 267 individuals. We carried out a double GWS using a set of 902 uniformly spaced microsatellites and a high-density SNPs map on the same group of families.

resultsThree loci were identified by both microsatellites and SNP scans and the obtained linkage results showed a remarkable degree of similarity. These loci were identified on chromosome 2q24, 11q23.1-25 and 13q14.11-21.33. Further support to these findings is their broad description present in literature associated to EH or related phenotypes. Bioinformatic investigation of these loci shows several potential EH candidate genes, several of whom already associated to blood pressure regulation pathways.

conclusionOur search for major susceptibility EH genetic factors evidences that EH in the genetic isolate of Talana is due to the contribution of several genes contained in loci identified and replicated by earlier findings in different human populations.

Indexed as

Lod ScorePolymorphism, Single NucleotideAdultAgedFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHypertensionItalyMaleMicrosatellite RepeatsMiddle AgedPedigree

Identifiers

PMID19715579
PMCPMC2741446
OpenAlexW1987926365

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.