Evidence map›Paper›PMID 28899997›Full record

ArticleGenetics2017

Improving Disease Prediction by Incorporating Family Disease History in Risk Prediction Models with Large-Scale Genetic Data.

Jungsoo Gim, Wonji Kim, Soo Heon Kwak, Hosik Choi, Changyi Park, Kyong Soo Park, Sunghoon Kwon, Taesung Park, Sungho Won

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.1field-weighted citation impact, top 19% 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

8 citing papers in PubMed, 13 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

9 authors at 4 institutions in 1 country.

Jungsoo GimInstitute of Health and Environment, Seoul National University, 08826, Republic of Korea.
Wonji KimInterdisciplinary Program of Bioinformatics, Seoul National University, 08826, Republic of Korea.
Soo Heon KwakDepartment of Internal Medicine, College of Medicine, Seoul National University 03080, Republic of Korea.
Hosik ChoiDepartment of Applied Information Statistics, Kyonggi University, Suwon, Republic of Korea 16227.
Changyi ParkDepartment of Statistics, University of Seoul, Republic of Korea 02504.
Kyong Soo ParkDepartment of Internal Medicine, College of Medicine, Seoul National University 03080, Republic of Korea.
Sunghoon KwonDepartment of Applied Statistics, Konkuk University, Seoul, Republic of Korea, 05029.
Taesung ParkDepartment of Statistics, Seoul National University, 08826, Republic of Korea 05029 tspark@stats.snu.ac.kr won1@snu.ac.kr.
Sungho WonGraduate School of Public Health, Seoul National University, 08826, Republic of Korea tspark@stats.snu.ac.kr won1@snu.ac.kr.
Seoul National University · KRKonkuk University · KRKyonggi University · KRUniversity of Seoul · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Despite the many successes of genome-wide association studies (GWAS), the known susceptibility variants identified by GWAS have modest effect sizes, leading to notable skepticism about the effectiveness of building a risk prediction model from large-scale genetic data. However, in contrast to genetic variants, the family history of diseases has been largely accepted as an important risk factor in clinical diagnosis and risk prediction. Nevertheless, the complicated structures of the family history of diseases have limited their application in clinical practice. Here, we developed a new method that enables incorporation of the general family history of diseases with a liability threshold model, and propose a new analysis strategy for risk prediction with penalized regression analysis that incorporates both large numbers of genetic variants and clinical risk factors. Application of our model to type 2 diabetes in the Korean population (1846 cases and 1846 controls) demonstrated that single-nucleotide polymorphisms accounted for 32.5% of the variation explained by the predicted risk scores in the test data set, and incorporation of family history led to an additional 6.3% improvement in prediction. Our results illustrate that family medical history provides valuable information on the variation of complex diseases and improves prediction performance.

Indexed as

Genetic Predisposition to DiseaseModels, GeneticPedigreeDiabetes Mellitus, Type 2Genetic VariationGenome-Wide Association StudyHumansMedical History Takingfamily historyGenetic variability in complex binary traitsLiability threshold modelpenalized prediction modelrisk prediction in complex disease

Identifiers

PMID28899997
PMCPMC5676245
OpenAlexW2755395050

What OpenQuestion holds

Textmetadata
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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.