北非人群中尿苷二磷酸葡萄糖醛酸转移酶的基因变异：与非洲和欧洲数据的比较。
UDP-glucuronosyltransferase genetic variation in North African populations: a comparison with African and European data.
作者信息
Novillo Apolonia, Gaibar María, Romero-Lorca Alicia, Chaabani Hassen, Amir Nadir, Moral Pedro, Esteban M Esther, Fernández-Santander Ana
机构信息
a Basic Biomedical Sciences Department , Universidad Europea de Madrid , Madrid , Spain.
b Faculty of Pharmacy , University of Monastir , Monastir , Tunisia.
出版信息
Ann Hum Biol. 2018 Sep-Dec;45(6-8):516-523. doi: 10.1080/03014460.2018.1559354. Epub 2019 Feb 12.
BACKGROUND
Genetic variation in glucuronosyltransferases (UGT) is crucial in drug metabolism and risk of some diseases.
AIM
To examine genetic variation in UGT in North African populations.
SUBJECTS AND METHODS
Allele frequencies of SNPs UGT1A4, UGT1A4, UGT2B15, UGT2B15 and UGT2B17 CNV deletion from Morocco, Algeria, Tunisia and Libya were compared to European and Sub-Saharan populations.
RESULTS
North Africans are the group with the highest genetic heterogeneity given by internal differences in the occurrence of UGT2B17 deletion, UGT1A4 and UGT1A4 haplotypes. UGT2B15 SNPs differentiate Sub-Saharans from the rest of the populations.
CONCLUSION
North African populations show a high frequency of carriers of UGT2B15, a variant linked to an increased risk of prostate cancer. High Atlas Moroccans and Algerians show low frequency of UGT2B17, a variant associated with high concentrations of testosterone and oestradiol.
背景
葡萄糖醛酸转移酶（UGT）的基因变异在药物代谢和某些疾病风险中至关重要。
目的
研究北非人群中UGT的基因变异。
对象与方法
比较了来自摩洛哥、阿尔及利亚、突尼斯和利比亚的单核苷酸多态性（SNP）UGT1A4、UGT1A4、UGT2B15、UGT2B15以及UGT2B17拷贝数变异缺失的等位基因频率与欧洲和撒哈拉以南人群。
结果
鉴于UGT2B17缺失、UGT1A4和UGT1A4单倍型出现的内部差异，北非人群是基因异质性最高的群体。UGT2B15 SNP将撒哈拉以南人群与其他人群区分开来。
结论
北非人群中UGT2B15携带者的频率较高，UGT2B15是一种与前列腺癌风险增加相关的变异体。摩洛哥高阿特拉斯山脉地区的人群和阿尔及利亚人群中UGT2B17的频率较低，UGT2B17是一种与高浓度睾酮和雌二醇相关的变异体。
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