Polymorphism of the androgen receptor gene is associated with male pattern baldness
Polymorphism of the androgen receptor gene is associated with male pattern baldness
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DOI：
10.1046/j.1523-1747.2001.01261.x
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发表时间：
2001-03-01
影响因子：
6.5
通讯作者：
Harrap, SB
中科院分区：
文献类型：
--
作者：
Ellis, JA;Stebbing, M;Harrap, SB
常见的遗传性脱发称为男性型秃发或雄激素性脱发，影响80岁以上的男性高达80%。秃头的特点是高水平的强效雄激素双氢睾酮和雄激素受体基因的表达增加。为了确定雄激素受体基因是否与男性型秃发相关，我们比较了雄激素受体基因多态性（StuI限制性片段长度多态性和两个三联体重复多态性）的等位基因频率，在有明显秃发的病例（54名年轻男性和392名老年男性）和对照组（107名老年男性）中，没有秃发的迹象。雄激素受体基因StuI限制性位点被发现在所有，但一个（98.1%）的54个年轻的秃头男性（p = 0.0005）和92.3%的老年秃头男性（p = 0.00004），但只有76.6%的非秃头男性。较短CAG和GGC三联体重复长度的组合在秃头男性中也更普遍（p = 0.03）。雄激素受体基因StuI限制性位点的普遍存在，以及在秃顶男性中较短的三联重复单倍型的较高发生率表明，这些标记物非常接近于一种功能变体，该功能变体是男性型秃顶的多基因决定的必要组成部分。雄激素受体基因或其附近的功能突变可以解释该基因在秃头头皮中的高水平表达。
The common heritable loss of scalp hair known as male pattern baldness or androgenetic alopecia affects up to 80% of males by age 80. A balding scalp is characterized by high levels of the potent androgen dihydrotestosterone and increased expression of the androgen receptor gene. To determine if the androgen receptor gene is associated with male pattern baldness, we compared allele frequencies of the androgen receptor gene polymorphisms (StuI restriction fragment length polymorphism and two triplet repeat polymorphisms) in cases with cosmetically significant baldness (54 young and 392 older men) and controls (107 older men) with no indication of baldness. The androgen receptor gene StuI restriction site was found in all but one (98.1%) of the 54 young bald men (p = 0.0005) and in 92.3% of older balding men (p = 0.000004) but in only 76.6% of nonbald men. The combination of shorter CAG and GGC triplet repeat lengths was also more prevalent in bald men (p = 0.03). The ubiquity of the androgen receptor gene StuI restriction site, and higher incidence of shorter triplet repeat haplotypes in bald men suggests that these markers are very close to a functional variant that is a necessary component of the polygenic determination of male pattern baldness. Functional mutation in or near the androgen receptor gene may explain the reported high levels of expression of this gene in the balding scalp.