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2.
Nat Commun ; 10(1): 1150, 2019 03 08.
Artículo en Inglés | MEDLINE | ID: mdl-30850646

RESUMEN

Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic recent increase in incidence the aetiopathogenesis of FFA remains unknown. We undertake genome-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme. Transcriptomic analysis of affected scalp tissue highlights overrepresentation of transcripts encoding components of innate and adaptive immune response pathways. These findings provide insight into disease pathogenesis and characterise FFA as a genetically predisposed immuno-inflammatory disorder driven by HLA-B*07:02.


Asunto(s)
Alopecia/congénito , Sitios Genéticos , Predisposición Genética a la Enfermedad , Antígeno HLA-B7/genética , Transcriptoma/inmunología , Inmunidad Adaptativa , Alopecia/diagnóstico , Alopecia/genética , Alopecia/fisiopatología , Estudios de Casos y Controles , Estudios de Cohortes , Citocromo P-450 CYP1B1/genética , Citocromo P-450 CYP1B1/inmunología , Femenino , Expresión Génica , Genoma Humano , Estudio de Asociación del Genoma Completo , Antígeno HLA-B7/inmunología , Humanos , Inmunidad Innata , Polimorfismo de Nucleótido Simple
4.
Clin Chem Lab Med ; 47(2): 202-7, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19191727

RESUMEN

BACKGROUND: The changes in androgen levels after the menopause and the effects of hormone replacement therapy (HRT) itself and the mode of HRT have not been established. The objectives of this study were to document the effect of age on androgen levels in a normal population of postmenopausal women and to investigate the effect of oral or transdermal HRT on androgen, oestradiol and sex hormone binding globulin (SHBG) values. METHODS: A cross-sectional study was conducted on 182 postmenopausal females aged 45-100 years, randomly recruited from the community. Serum levels of dehydroepiandrosterone sulphate (DHEAS), androstenedione, testosterone, free androgen index (FAI) and SHBG in a reference group of women, subdivided by age, menopausal status, HRT replacement and mode of HRT replacement. RESULTS: Age was a significant factor affecting androstenedione (<55, > or =55 years) and DHEAS (<65, > or =65 years). HRT status was found to influence values for androstenedione, SHBG and FAI. Neither HRT nor age significantly influenced testosterone. CONCLUSIONS: The observations suggest the need to provide age-specific reference intervals for androstenedione and DHEAS but not for testosterone and SHBG. The significant effect of HRT treatment would also suggest a need for treatment associated reference intervals for androstenedione, SHBG and FAI. Suggested reference intervals for each of these partitioned groups are presented.


Asunto(s)
Envejecimiento/sangre , Andrógenos/sangre , Terapia de Reemplazo de Estrógeno/efectos adversos , Posmenopausia/sangre , Factores de Edad , Anciano , Anciano de 80 o más Años , Algoritmos , Androstenodiona/sangre , Estudios Transversales , Sulfato de Deshidroepiandrosterona/sangre , Femenino , Humanos , Modelos Lineales , Persona de Mediana Edad , Globulina de Unión a Hormona Sexual/análisis
5.
Arch Dermatol ; 144(11): 1432-5, 2008 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19015417

RESUMEN

OBJECTIVE: To investigate the prevalence of autoimmune disease and circulating autoantibodies in women with lichen sclerosus (LS) and erosive lichen planus (LP) of the vulva and to compare these with a control population. DESIGN: Age- and sex-matched controlled study. SETTING: The vulval clinics in Oxfordshire, England, for patients with LS and LP. Healthy controls were recruited from the hospital and community. PATIENTS: A total of 190 women with the typical features of adult-onset LS of the vulva, 126 women with adult-onset erosive LP of the vulva, and 922 female controls (of whom 230 were examined). INTERVENTIONS: Personal history of autoimmune disorder for patients and controls, family history of autoimmune disorder for vulval LS and LP cohorts, and an autoantibody screen. MAIN OUTCOME MEASURES: The presence or absence of a personal or family history of autoimmune disorder, and the presence or absence of 1 or more circulating autoantibodies. RESULTS: The mean ages of patients with LS, patients with erosive LP, and control patients were 63, 61, and 61 years, respectively. The mean age of the 230 controls examined (including those who had serum autoantibodies assayed) was 62 years. Autoimmune disorders were more frequent in patients with erosive LP compared with controls (29% vs 9%; P < .001) and in those with LS compared with controls (28% vs 9%; P < .001). Circulating autoantibodies were more frequent in those with erosive LP compared with controls (41% vs 20%; P < .001). Conclusion This study demonstrates an association of autoimmune disorder and autoantibodies with erosive LP of the vulva and confirms the autoimmune associations of vulval LS.


Asunto(s)
Autoanticuerpos/análisis , Enfermedades Autoinmunes/epidemiología , Liquen Plano/epidemiología , Liquen Escleroso y Atrófico/epidemiología , Enfermedades de la Vulva/epidemiología , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Enfermedades Autoinmunes/diagnóstico , Estudios de Casos y Controles , Comorbilidad , Femenino , Estudios de Seguimiento , Humanos , Liquen Plano/inmunología , Liquen Plano/patología , Liquen Escleroso y Atrófico/inmunología , Liquen Escleroso y Atrófico/patología , Persona de Mediana Edad , Prevalencia , Probabilidad , Valores de Referencia , Medición de Riesgo , Índice de Severidad de la Enfermedad , Enfermedades de la Vulva/inmunología , Enfermedades de la Vulva/patología , Liquen Escleroso Vulvar/epidemiología , Liquen Escleroso Vulvar/inmunología , Liquen Escleroso Vulvar/patología , Adulto Joven
6.
Australas J Dermatol ; 49(3): 137-41, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18638220

RESUMEN

Autoantibodies to basement membrane proteins BP180 and BP230 are characteristic of bullous pemphigoid and other subepidermal immunobullous disorders. These antibodies are, however, reported in other pruritic dermatoses, non-bullous disorders and non-cutaneous disease. Few studies have assessed basement membrane antibodies in normal subjects; antibody prevalence in this population is not clear. This study aims to examine basement membrane zone antibodies in normal middle-aged to elderly subjects. Sera from 61 healthy subjects (majority age 50-70 years) were assessed by immunoblot, indirect immunofluorescence and enzyme-linked immunosorbent assay. Ninety-one bullous pemphigoid patients acted as positive controls. Antigenic target, antibody class and titre were examined; sera binding BP180 were assessed for reactivity to the non-collagenous 16A (NC16A) domain. Thirty-six normal subjects (59%) had antibodies to either BP180 or BP230 on immunoblot analysis. BP180 was the commonest target antigen, detected in 35 subjects; binding to the immunodominant NC16A domain was not detected. Immunofluorescence was positive in three subjects. Of the bullous pemphigoid sera, 88% were positive on immunoblot or immunofluorescence; a higher frequency had antibodies against BP230. In conclusion, significant numbers of normal healthy subjects have circulating autoantibodies to basement membrane proteins, chiefly BP180 detectable by immunoblot, but these do not bind the NC16A domain.


Asunto(s)
Autoanticuerpos/sangre , Autoantígenos/inmunología , Membrana Basal/inmunología , Colágenos no Fibrilares/inmunología , Penfigoide Ampolloso/inmunología , Anciano , Autoantígenos/sangre , Estudios de Casos y Controles , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Immunoblotting , Masculino , Persona de Mediana Edad , Colágenos no Fibrilares/sangre , Colágeno Tipo XVII
7.
Hosp Med ; 65(5): 293-7, 2004 May.
Artículo en Inglés | MEDLINE | ID: mdl-15176146

RESUMEN

Hirsutism can be a source of great distress and social embarrassment and in some cases can indicate underlying endocrine or malignant disease. More is known about the metabolic consequences of hyperandrogenism including risk of developing cardiovascular disease, insulin resistance or diabetes. Full assessment is vital in light of the potential health consequences of hirsutism.


Asunto(s)
Hirsutismo , Andrógenos/fisiología , Técnicas de Laboratorio Clínico , Femenino , Hirsutismo/diagnóstico , Hirsutismo/etiología , Hirsutismo/terapia , Humanos , Anamnesis , Enfermedades del Ovario/complicaciones , Examen Físico , Pérdida de Peso
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