Ethnic variation in allele distribution of the androgen receptor (AR) (CAG)n repeat.
Ethnic variation in allele distribution of the androgen receptor (AR) (CAG)n repeat.
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DOI：
10.2164/jandrol.111.013391
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发表时间：
2012-03
影响因子：
--
通讯作者：
Hapo Study Cooperative Research Group
中科院分区：
文献类型：
--
作者：
Ackerman CM;Lowe LP;Lee H;Hayes MG;Dyer AR;Metzger BE;Lowe WL;Urbanek M;Hapo Study Cooperative Research Group
雄激素受体（AR）在生殖器官发育以及成年期胰腺、肝脏和骨骼肌的组织稳态中很重要。AR基因外显子1中的三核苷酸（CAG）n重复多态性被认为调节AR活性，较长的等位基因赋予降低的受体活性。因此，在不同种族群体中AR（CAG）n重复的等位基因分布的评价对于了解AR活性的个体间变异性至关重要。我们通过对来自多种族高血压和不良妊娠结局研究队列的个体进行基因分型来评估这种AR多态性的种族差异。我们对来自加州贝尔弗劳尔的4421名白人母亲和3365名欧洲血统的后代、1494名泰国母亲和1742名后代、1119名非洲-加勒比母亲和1142名后代以及780名西班牙裔母亲和770名墨西哥血统的后代进行了基因分型。（CAG）n等位基因在4个民族间的分布差异有显著性（P < .0001）。成对检验证实了所测试的每对种族之间存在显着差异（P < 10 - 28）。不同组中的相对AR（CAG）n重复长度如下：非洲裔加勒比人（最短重复长度和最大预测AR活性）<高加索人<西班牙裔<泰国人（最长重复长度和最低预测AR活性）。AR外显子1（CAG）n多态性的等位基因频率存在显着的种族间差异。我们的研究结果表明，可能有潜在的种族差异，雄激素途径的活动和雄激素敏感性。
The androgen receptor (AR) is important in reproductive organ development, as well as tissue homeostasis of the pancreas, liver, and skeletal muscle in adulthood. The trinucleotide (CAG)n repeat polymorphism in exon 1 of the AR gene is thought to regulate AR activity, with longer alleles conferring reduced receptor activity. Therefore, the evaluation of the allelic distribution of the AR (CAG)n repeat in various ethnic groups is crucial in understanding the interindividual variability in AR activity. We evaluated ethnic variation of this AR polymorphism by genotyping individuals from the multiethnic Hyperglycemia and Adverse Pregnancy Outcome study cohort. We genotyped 4421 Caucasian mothers and 3365 offspring of European ancestry; 1494 Thai mothers and 1742 offspring; 1119 Afro-Caribbean mothers and 1142 offspring; and 780 Hispanic mothers and 770 offspring of Mexican ancestry from Bellflower, California. The distributions of (CAG)n alleles among all 4 ethnic groups are significantly different (P < .0001). Pairwise tests confirmed significant differences between each pair of ethnicities tested (P < 10−28). The relative AR (CAG)n repeat length in the different groups was as follows: Afro-Caribbean (shortest repeat lengths and greatest predicted AR activity) < Caucasian < Hispanic < Thai (longest repeat length and lowest predicted AR activity). Significant interethnic differences in the allele frequencies of the AR exon 1 (CAG)n polymorphism exist. Our results suggest that there may be potential ethnic differences in androgenic pathway activity and androgen sensitivity.
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影响因子：
15.9
作者：
MCPHAUL, MJ;MARCELLI, M;WILSON, JD
通讯作者：
WILSON, JD
影响因子：
2.4
作者：
Wu, Mei-Hsuan;Chou, Yu-Ching;Sun, Chien-An
通讯作者：
Sun, Chien-An
影响因子：
7.7
作者：
HAPO Study Cooperative Research Group
通讯作者：
HAPO Study Cooperative Research Group
影响因子：
3.5
作者：
Buchanan, G;Yang, M;Tilley, WD
通讯作者：
Tilley, WD
影响因子：
5.8
作者：
Ackerman, C. M.;Lowe, L. P.;Urbanek, M.
通讯作者：
Urbanek, M.