Evidence map›Paper›PMID 28912512›Full record

ArticleEye (London, England)2018

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

R Cascella, C Strafella, G Longo, L Manzo, M Ragazzo, C De Felici, S Gambardella, L T Marsella, G Novelli, P Borgiani and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Eye (London, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.5field-weighted citation impact, top 7% 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

19 citing papers in PubMed, 22 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 5 institutions in 1 country.

R CascellaMolecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
C StrafellaDepartment of Biomedicine and Prevention, 'Tor Vergata' University, Rome, Italy.
G LongoDepartment of Biomedicine and Prevention, 'Tor Vergata' University, Rome, Italy.
L ManzoDepartment of Biomedicine and Prevention, 'Tor Vergata' University, Rome, Italy.
M RagazzoDepartment of Biomedicine and Prevention, 'Tor Vergata' University, Rome, Italy.
C De FeliciUOSD Retinal Pathology PTV Foundation 'Policlinico Tor Vergata', Rome, Italy.
S GambardellaNeuromed IRCCS, Pozzuoli, Italy.
L T MarsellaDepartment of Biomedicine and Prevention, 'Tor Vergata' University, Rome, Italy.
G NovelliDepartment of Biomedicine and Prevention, 'Tor Vergata' University, Rome, Italy.
P BorgianiDepartment of Biomedicine and Prevention, 'Tor Vergata' University, Rome, Italy.
F SangiuoloDepartment of Biomedicine and Prevention, 'Tor Vergata' University, Rome, Italy.
A CusumanoUOSD Retinal Pathology PTV Foundation 'Policlinico Tor Vergata', Rome, Italy.
F RicciUOSD Retinal Pathology PTV Foundation 'Policlinico Tor Vergata', Rome, Italy.
E GiardinaMolecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
University of Rome Tor Vergata · ITPoliclinico Tor Vergata · ITFondazione Santa Lucia · ITInstitute of Applied Science and Intelligent Systems · ITIstituto Neurologico Mediterraneo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.

Indexed as

Genetic CounselingGenetic TestingMedical History TakingAgedAllelesFemaleHumansMacular DegenerationMaleMiddle AgedPolymorphism, GeneticRisk FactorsSmoking

Identifiers

PMID28912512
PMCPMC5811711
OpenAlexW2756085065

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.