PMID:15086549

Citation	Winter, H, Schissel, D, Parry, DA, Smith, TA, Liovic, M, Birgitte Lane, E, Edler, L, Langbein, L, Jave-Suarez, LF, Rogers, MA, Wilde, J, Peters, G and Schweizer, J (2004) An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae. J. Invest. Dermatol. 122:652-7
Abstract	Pseudofolliculitis barbae (PFB) is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males. Black individuals have a higher propensity of developing PFB due to their genetic predisposition for curly hair which inherently possesses a much higher risk of growing back into the skin than straight or wavy hair. The PFB process is, however, not gender dependent nor restricted to the face, but can occur in any skin region once regular shaving, plucking, or other traumatic means of hair removal are instituted. Through a family study and a large-scale investigation of randomly sampled PFB-affected and -unaffected individuals, this study demonstrates that an unusual single-nucleotide polymorphism, which gives rise to a disruptive Ala12Thr substitution in the 1A alpha-helical segment of the companion layer-specific keratin K6hf of the hair follicle, is partially responsible for the phenotypic expression and represents an additional genetic risk factor for PFB.
Links	PubMed Online version:10.1111/j.0022-202X.2004.22309.x
Keywords	Cells, Cultured; Facial Dermatoses/etiology; Facial Dermatoses/genetics; Folliculitis/etiology; Folliculitis/genetics; Genetic Predisposition to Disease; Humans; Keratins/chemistry; Keratins/genetics; Male; Mutation; Polymorphism, Genetic; Protein Structure, Secondary; Risk Factors
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
HUMAN:K2C75		GO:0005882: intermediate filament	ECO:0000314:		C		Fig. 4a, "Cells transfected with K6hfWT/K17...Note the fully extended IF network in a"	complete CACAO 3866
HUMAN:K2C75	part_of	GO:0005882: intermediate filament	ECO:0000314: direct assay evidence used in manual assertion		C		Seeded From UniProt	complete

References

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