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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Oetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D H

Nature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]

England: Nature Publishing Group

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Autor: Oetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D H
Assuntos: Apolipoproteins B - genetics ; Autistic Disorder - genetics ; Body Height - genetics ; Body Mass Index ; Cholesterol ; Cholesterol, LDL - blood ; Cholesterol, LDL - genetics ; Chromosome Deletion ; Chromosome Disorders - genetics ; Chromosome Duplication - genetics ; Chromosomes ; Chromosomes, Human, Pair 16 - genetics ; Chromosomes, Human, X - genetics ; Disease ; Disorders ; Female ; Genetic disorders ; Health risks ; Humans ; Hypercholesterolemia ; Hyperlipoproteinemia Type II - genetics ; Hypobetalipoproteinemia ; Hypobetalipoproteinemias - genetics ; Intellectual Disability - genetics ; Klinefelter Syndrome - genetics ; Male ; Melanocortin MC4 receptors ; Middle Aged ; Multifactorial Inheritance ; Obesity - genetics ; Polygenic inheritance ; Predictions ; Proprotein Convertase 9 - genetics ; Rare Diseases - genetics ; Receptor, Melanocortin, Type 4 - deficiency ; Receptor, Melanocortin, Type 4 - genetics ; Receptors, LDL - genetics ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development - genetics ; Sex chromosomes ; Trisomy - genetics ; Turner Syndrome - genetics ; XYY Karyotype - genetics
É parte de: Nature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897
Descrição: Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals, a disease characteristic termed variable expressivity. Recently, the aggregate effect of common variation, quantified as polygenic scores (PGSs), has emerged as an effective tool for predictions of disease risk and trait variation in the general population. Here, we measure the effect of PGSs on 11 RGDs including four sex-chromosome aneuploidies (47,XXX; 47,XXY; 47,XYY; 45,X) that affect height; two copy-number variant (CNV) disorders (16p11.2 deletions and duplications) and a Mendelian disease (melanocortin 4 receptor deficiency (MC4R)) that affect BMI; and two Mendelian diseases affecting cholesterol: familial hypercholesterolemia (FH; LDLR and APOB) and familial hypobetalipoproteinemia (FHBL; PCSK9 and APOB). Our results demonstrate that common, polygenic factors of relevant complex traits frequently contribute to variable expressivity of RGDs and that PGSs may be a useful metric for predicting clinical severity in affected individuals and for risk stratification.
Editor: England: Nature Publishing Group
Idioma: Inglês

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Oetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D H

England: Nature Publishing Group

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