Dataset Information

FamAgg: an R package to evaluate familial aggregation of traits in large pedigrees.

ABSTRACT:

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Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex phenotypes in very large pedigrees. Such pedigrees can be utilized to calculate measures that express trait aggregation on both the family and individual level, providing valuable directions in choosing families for detailed follow-up studies. We developed FamAgg, an open source R package that contains both established and novel methods to investigate familial aggregation of traits in large pedigrees. We demonstrate its use and interpretation by analyzing a publicly available cancer dataset with more than 20 000 participants distributed across approximately 400 families.

Availability and implementation

The FamAgg package is freely available at the Bioconductor repository, http://www.bioconductor.org/packages/FamAgg

Contact

Christian.Weichenberger@eurac.edu

Supplementary information

Supplementary data are available at Bioinformatics online.

SUBMITTER: Rainer J

PROVIDER: S-EPMC4866523 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

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Publications

FamAgg: an R package to evaluate familial aggregation of traits in large pedigrees.

Rainer Johannes J Taliun Daniel D D'Elia Yuri Y Pattaro Cristian C Domingues Francisco S FS Weichenberger Christian X CX

Bioinformatics (Oxford, England) 20160122 10

<h4>Unlabelled</h4>Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex phenotypes in very large pedigrees. Such pedigrees can be utilized to calculate measures that express trait aggregation on both the family and individual level, providing valuable directions in choosing families for detailed follow-up studies. We developed FamAgg, ...[more]

PMID: 26803158

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Project description:ObjectivesThis research examined the familial aggregation of migraine, depression, and their co-occurrence.MethodsDiagnoses of migraine and depression were determined in a sample of 5,319 Australian twins. Migraine was diagnosed by either self-report, the ID migraine™ Screener, or International Headache Society (IHS) criteria. Depression was defined by fulfilling either major depressive disorder (MDD) or minor depressive disorder (MiDD) based on the Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria. The relative risks (RR) for migraine and depression were estimated in co-twins of twin probands reporting migraine or depression to evaluate their familial aggregation and co-occurrence.ResultsAn increased RR of both migraine and depression in co-twins of probands with the same trait was observed, with significantly higher estimates within monozygotic (MZ) twin pairs compared to dizygotic (DZ) twin pairs. For cross-trait analysis, the RR for migraine in co-twins of probands reporting depression was 1.36 (95% CI: 1.24-1.48) in MZ pairs and 1.04 (95% CI: 0.95-1.14) in DZ pairs; and the RR for depression in co-twins of probands reporting migraine was 1.26 (95% CI: 1.14-1.38) in MZ pairs and 1.02 (95% CI: 0.94-1.11) in DZ pairs. The RR for strict IHS migraine in co-twins of probands reporting MDD was 2.23 (95% CI: 1.81-2.75) in MZ pairs and 1.55 (95% CI: 1.34-1.79) in DZ pairs; and the RR for MDD in co-twins of probands reporting IHS migraine was 1.35 (95% CI: 1.13-1.62) in MZ pairs and 1.06 (95% CI: 0.93-1.22) in DZ pairs.ConclusionsWe observed significant evidence for a genetic contribution to familial aggregation of migraine and depression. Our findings suggest a bi-directional association between migraine and depression, with an increased risk for depression in relatives of probands reporting migraine, and vice versa. However, the observed risk for migraine in relatives of probands reporting depression was considerably higher than the reverse. These results add further support to previous studies suggesting that patients with comorbid migraine and depression are genetically more similar to patients with only depression than patients with only migraine.

Dataset Information

FamAgg: an R package to evaluate familial aggregation of traits in large pedigrees.

Unlabelled

Availability and implementation

Contact

Supplementary information

Publications

FamAgg: an R package to evaluate familial aggregation of traits in large pedigrees.

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