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
16374462
TITLE
A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31.
ABSTRACT
Deterioration in stratum corneum reticular patterning (skin pattern or skin wrinkling) has been associated with increased rates of solar keratoses and skin cancer. A previous analysis of data from the twin sample used in this investigation has shown that 86% of the variation in skin pattern is genetic at age 12 and 62% in an adult sample (mean age = 47.5). Variation due to genetic influences is likely to be influenced by more than one locus. Here, we present results of a genome-wide linkage scan of skin pattern in adolescent twins and siblings from 428 nuclear twin families. Sib-pair linkage analysis was performed on skin pattern data collected from twins at age 12 (378 informative families) and 14 (316 families). Suggestive linkage was found at marker D12S397 (12p13.31, logarithm of the odds (lod) 1.94), when the effect of the trait locus was modelled to influence the skin pattern equally at both ages 12 and 14. In the same analysis, a peak was seen at 4q23 with a lod score of 1.55. A possible candidate for the peak at 12p13.31 is the protease inhibitor, alpha-2-macroglobulin.
DATE PUBLISHED
2006 Feb
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2005/12/24 09:00
medline 2006/03/08 09:00
entrez 2005/12/24 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Shekar SN Shekar Sri Niranjan SN Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. srishekar@qimr.edu.au
Duffy DL Duffy David L DL
Montgomery GW Montgomery Grant W GW
Martin NG Martin Nicholas G NG
INVESTIGATORS
JOURNAL
VOLUME: 126
ISSUE: 2
TITLE: The Journal of investigative dermatology
ISOABBREVIATION: J. Invest. Dermatol.
YEAR: 2006
MONTH: Feb
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0022-202X
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: J Invest Dermatol
COUNTRY: United States
ISSNLINKING: 0022-202X
NLMUNIQUEID: 0426720
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
CA88363 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Child
Chromosomes, Human, Pair 12 genetics
Chromosomes, Human, Pair 4 genetics
Epidermis pathology
Female pathology
Genetic Linkage pathology
Genetic Testing pathology
Genome, Human pathology
Humans pathology
Male pathology
Protease Inhibitors metabolism
Skin Aging genetics
Twins genetics
alpha-Macroglobulins genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Protease Inhibitors
0 alpha-Macroglobulins
OTHER ID's