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.
authors.affiliation: Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. srishekar@qimr.edu.au
authors.forename: Sri Niranjan
authors.initials: SN
authors.lastname: Shekar
authors.forename: David L
authors.initials: DL
authors.lastname: Duffy
authors.forename: Grant W
authors.initials: GW
authors.lastname: Montgomery
authors.forename: Nicholas G
authors.initials: NG
authors.lastname: Martin
mesh_terms: D000293:Adolescent; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004817:Epidermis / Q000473:pathology*; D005260:Female; D008040:Genetic Linkage; D005820:Genetic Testing; D015894:Genome, Human; D006801:Humans; D008297:Male; D011480:Protease Inhibitors / Q000378:metabolism; D015595:Skin Aging / Q000235:genetics*; D014427:Twins / Q000235:genetics; D000511:alpha-Macroglobulins / Q000235:genetics*
chemical_list: D011480:Protease Inhibitors; D000511:alpha-Macroglobulins