Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss

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Yip LZ, S.; Irwin, D.; Severi, G.; Hopper, J.; Giles, G.; Harrap, S.; Sinclair, R.; Ellis, J. (2009) Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss. Br J Dermatol 161:289-294


BACKGROUND: Female pattern hair loss (FPHL) is a common trait in which androgens and oestrogens may have a pathogenic role. The aromatase enzyme converts androgens to oestrogens in scalp hair follicles and is differentially expressed in balding and nonbalding scalps of women. Sequence variation in the gene encoding aromatase, CYP19A1, might influence the risk of developing FPHL. OBJECTIVES: To examine the role of CYP19A1 genetic variation in the heritability of FPHL. METHODS: We investigated associations between FPHL and 61 tag single nucleotide polymorphisms (SNPs) representing variation in and around CYP19A1 in 484 caucasian women with grades 3-5 FPHL on the Sinclair scale, and 471 caucasian women with no evidence of hair loss. RESULTS: For the tag SNP rs4646 (overall genotype frequencies: CC, 53.6%; AC, 39.3%; AA, 7.1%), the genotype CC was more frequent in women with FPHL (58.1%) than controls (48.9%) (P = 0.006). Although this result did not achieve experiment-wide significance (P < 0.001="" by="" permutation="" testing),="" subanalyses="" according="" to="" sources="" of="" recruitment="" and="" ages="" at="" presentation="" revealed="" consistent="" patterns="" of="" association.="" in="" particular,="" young="" cases="">< 40="" years)="" had="" the="" highest="" frequency="" of="" the="" cc="" genotype="" (68.2%)="" among="" all="" subgroups.="" conclusions:="" these="" findings="" suggest="" that="" the="" common="" rs4646="" c="" allele,="" which="" has="" been="" associated="" previously="" with="" higher="" circulating="" oestrogen="" levels,="" might="" be="" associated="" with="" predisposition="" to="">

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