Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease.
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Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease. / Betz, Regina C; Pforr, Jana; Flaquer, Antonia; Redler, Silke; Hanneken, Sandra; Eigelshoven, Sibylle; Kortüm, Anne-Katrin; Tüting, Thomas; Lambert, Julien; Jozef, De Weert; Hillmer, Axel M; Schmael, Christine; Wienker, Thomas F; Kruse, Roland; Lutz, Gerhard; Blaumeiser, Bettina; Nöthen, Markus M.
in: J INVEST DERMATOL, Jahrgang 127, Nr. 11, 11, 2007, S. 2539-2543.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease.
AU - Betz, Regina C
AU - Pforr, Jana
AU - Flaquer, Antonia
AU - Redler, Silke
AU - Hanneken, Sandra
AU - Eigelshoven, Sibylle
AU - Kortüm, Anne-Katrin
AU - Tüting, Thomas
AU - Lambert, Julien
AU - Jozef, De Weert
AU - Hillmer, Axel M
AU - Schmael, Christine
AU - Wienker, Thomas F
AU - Kruse, Roland
AU - Lutz, Gerhard
AU - Blaumeiser, Bettina
AU - Nöthen, Markus M
PY - 2007
Y1 - 2007
N2 - Alopecia areata (AA) is a common dermatological disease, which affects nearly 2% of the general population. Association of AA with atopic disease has been repeatedly reported. Loss-of-function mutations in the filaggrin gene (FLG) may be considered as promising candidates in AA, as they have been observed to be a strong risk factor in atopic dermatitis. The FLG mutations R501X and 2282del4 were genotyped in a large sample of AA patients (n=449) and controls (n=473). Although no significant association was observed in the patient sample overall, FLG mutations were significantly associated with the presence of atopic dermatitis among AA patients. Furthermore, the presence of FLG mutations had a strong impact on the clinical course of AA in comorbid patients. For example, 19 of the 22 mutation carriers among AA patients with atopic dermatitis showed a severe form of the disease (P=0.003; odds ratio (OR)=5.47 (95% confidence interval (CI): 1.59-18.76)). In conclusion, our data suggest that when AA occurs in conjunction with FLG-associated atopic disorder, the clinical presentation of AA may be more severe.
AB - Alopecia areata (AA) is a common dermatological disease, which affects nearly 2% of the general population. Association of AA with atopic disease has been repeatedly reported. Loss-of-function mutations in the filaggrin gene (FLG) may be considered as promising candidates in AA, as they have been observed to be a strong risk factor in atopic dermatitis. The FLG mutations R501X and 2282del4 were genotyped in a large sample of AA patients (n=449) and controls (n=473). Although no significant association was observed in the patient sample overall, FLG mutations were significantly associated with the presence of atopic dermatitis among AA patients. Furthermore, the presence of FLG mutations had a strong impact on the clinical course of AA in comorbid patients. For example, 19 of the 22 mutation carriers among AA patients with atopic dermatitis showed a severe form of the disease (P=0.003; odds ratio (OR)=5.47 (95% confidence interval (CI): 1.59-18.76)). In conclusion, our data suggest that when AA occurs in conjunction with FLG-associated atopic disorder, the clinical presentation of AA may be more severe.
M3 - SCORING: Zeitschriftenaufsatz
VL - 127
SP - 2539
EP - 2543
JO - J INVEST DERMATOL
JF - J INVEST DERMATOL
SN - 0022-202X
IS - 11
M1 - 11
ER -
