Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
29110752
TITLE
Heritability and GWAS Analyses of Acne in Australian Adolescent Twins.
ABSTRACT
Acne vulgaris is a skin disease with a multifactorial and complex pathology. While several twin studies have estimated that acne has a heritability of up to 80%, the genomic elements responsible for the origin and pathology of acne are still undiscovered. Here we performed a twin-based structural equation model, using available data on acne severity for an Australian sample of 4,491 twins and their siblings aged from 10 to 24. This study extends by a factor of 3 an earlier analysis of the genetic factors of acne. Acne severity was rated by nurses on a 4-point scale (1 = absent to 4 = severe) on up to three body sites (face, back, chest) and on up to three occasions (age 12, 14, and 16). The phenotype that we analyzed was the most severe rating at any site or age. The polychoric correlation for monozygotic twins was higher (r MZ = 0.86, 95% CI [0.81, 0.90]) than for dizygotic twins (r DZ = 0.42, 95% CI [0.35, 0.47]). A model that includes additive genetic effects and unique environmental effects was the most parsimonious model to explain the genetic variance of acne severity, and the estimated heritability was 0.85 (95% CI [0.82, 0.87]). We then conducted a genome-wide analysis including an additional 271 siblings - for a total of 4,762 individuals. A genome-wide association study (GWAS) scan did not detect loci associated with the severity of acne at the threshold of 5E-08 but suggestive association was found for three SNPs: rs10515088 locus 5q13.1 (p = 3.9E-07), rs12738078 locus 1p35.5 (p = 6.7E-07), and rs117943429 locus 18q21.2 (p = 9.1E-07). The 5q13.1 locus is close to PIK3R1, a gene that has a potential regulatory effect on sebocyte differentiation.
DATE PUBLISHED
2017 Nov 07
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2017/11/08 06:00
pubmed 2017/11/08 06:00
medline 2017/11/08 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Mina-Vargas A Mina-Vargas Angela A QIMR Berghofer Medical Research Institute,Brisbane,QLD,Australia.
Colodro-Conde L Colodro-Conde Lucía L QIMR Berghofer Medical Research Institute,Brisbane,QLD,Australia.
Grasby K Grasby Katrina K QIMR Berghofer Medical Research Institute,Brisbane,QLD,Australia.
Zhu G Zhu Gu G QIMR Berghofer Medical Research Institute,Brisbane,QLD,Australia.
Gordon S Gordon Scott S QIMR Berghofer Medical Research Institute,Brisbane,QLD,Australia.
Medland SE Medland Sarah E SE QIMR Berghofer Medical Research Institute,Brisbane,QLD,Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute,Brisbane,QLD,Australia.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Twin research and human genetics : the official journal of the International Society for Twin Studies
ISOABBREVIATION: Twin Res Hum Genet
YEAR: 2017
MONTH: Nov
DAY: 07
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1832-4274
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Twin Res Hum Genet
COUNTRY: England
ISSNLINKING: 1832-4274
NLMUNIQUEID: 101244624
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
KEYWORD
acne vulgaris
genome-wide association study (GWAS)
twin modeling
MESH HEADINGS
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GENE SYMBOLS
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