Frequencies of the D85 and Y85 Variants of UGT2B1S in Children and Adolescent Girls with Hyperandrogenism
Frequencies of the D85 and Y85 Variants of UGT2B1S in Children and Adolescent Girls with Hyperandrogenism
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患有高雄激素血症的儿童和青春期女孩中 UGT2B1S 的 D85 和 Y85 变体的频率
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发表时间：
2003
期刊：
影响因子：
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通讯作者：
S. Witchel
中科院分区：
文献类型：
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作者：
M. Tomboc;S. Witchel
耻骨早熟(PP)似乎是青春期或青春期后发展为多囊卵巢综合征(PCOS)的危险因素。高雄激素血症的临床表现受雄激素产生、雄激素代谢和雄激素受体活性的影响。UDP-葡萄糖醛酸基转移酶2B(UGT2B)家族的葡萄糖醛酸化作用是雄激素失活的机制之一。UGT2B15是UGT2B15家族的成员，已经描述了两个不同于85密码子氨基酸的变体。这两种变异体都表现出相似的底物特异性。然而，对于底物α-雄烯二醇(α-二醇)和双氢睾酮(DHT)，D85变种的Vmax低于Y85变种。我们比较了69名PP患者、46名患有高雄激素血症(HA)的青春期女孩和88名健康对照的这些变异的频率，以确定D85变异的频率在高雄激素血症患者中是否增加。在患有PP的儿童、患有HA的青春期女孩和健康对照组中，等位基因频率是相似的。虽然D85和Y85似乎是常见的变异，但我们不能排除UGT2B15基因代表一个微小的修饰基因的可能性。
Premature pubarche (PP) appears to be a risk factor for the subsequent development of polycystic ovary syndrome (PCOS) during or after puberty. The clinical manifestations due to hyperandrogenism are influenced by androgen production, androgen metabolism, and androgen receptor activity. Glucuronidation by the UDP-glucuronyltransferase 2B (UGT2B) family of enzymes is one mechanism through which androgens are inactivated. Two variants differing by the amino acid at codon 85 have been described for UGT2B15, a member of this family. Both variants show similar substrate specificities. However, for the substrates alpha-androstanediol (alpha-diol) and dihydrotestosterone (DHT), the D85 variant has a lower Vmax than the Y85 variant. We compared the frequencies of these variants in 69 patients with PP, 46 adolescent girls with hyperandrogenism (HA), and 88 healthy controls to determine whether the frequency of the D85 variant was increased among patients with hyperandrogenism. Allele frequencies were comparable in children with PP, adolescent girls with HA, and healthy control subjects. Although D85 and Y85 appear to be common variants, we cannot exclude the possibility that the UGT2B15 gene represents a minor modifying locus.