title: Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: no association with female pattern hair loss identified.
abstract: Female pattern hair loss (FPHL) is a common disorder with a complex mode of inheritance. Although understanding of its etiopathogenesis is incomplete, an interaction between genetic and hormonal factors is assumed to be important. The involvement of an androgen-dependent pathway and sex steroid hormones is the most likely hypothesis. We therefore selected a total of 21 variants from the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2, the sex steroid hormone receptors ESR1, ESR2 (oestrogen receptor) and PGR (progesterone receptor) and genotyped these in a case-control sample of 198 patients (145 UK; 53 German patients) and 329 controls (179 UK; 150 German). None of these variants showed any significant association, either in the overall UK and German samples or in the subgroup analyses. In summary, the present results, while based on a limited selection of gene variants, do not point to the involvement of SRD5A1, SRD5A2, ESR1, ESR2 or PGR in FPHL.
authors.forename: Silke
authors.initials: S
authors.lastname: Redler
authors.forename: Rachid
authors.initials: R
authors.lastname: Tazi-Ahnini
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Drichel
authors.forename: Mary P
authors.initials: MP
authors.lastname: Birch
authors.forename: Felix F
authors.initials: FF
authors.lastname: Brockschmidt
authors.forename: Kathy
authors.initials: K
authors.lastname: Dobson
authors.forename: Kathrin A
authors.initials: KA
authors.lastname: Giehl
authors.forename: Melanie
authors.initials: M
authors.lastname: Refke
authors.forename: Nadine
authors.initials: N
authors.lastname: Kluck
authors.forename: Roland
authors.initials: R
authors.lastname: Kruse
authors.forename: Gerhard
authors.initials: G
authors.lastname: Lutz
authors.forename: Hans
authors.initials: H
authors.lastname: Wolff
authors.forename: Markus
authors.initials: M
authors.lastname: Böhm
authors.forename: Tim
authors.initials: T
authors.lastname: Becker
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
authors.forename: Andrew
authors.initials: A
authors.lastname: Messenger
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D000483:Alleles; D000505:Alopecia / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D047628:Estrogen Receptor alpha / Q000235:genetics; D047629:Estrogen Receptor beta / Q000235:genetics; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D005858:Germany; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D011960:Receptors, Estrogen / Q000235:genetics*; D011980:Receptors, Progesterone / Q000235:genetics*; D006113:United Kingdom
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D008565:Membrane Proteins; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548467:SRD5A1 protein, human; C548468:SRD5A2 protein, human