对照人群中的代谢基因多态性频率。

Metabolic gene polymorphism frequencies in control populations.

作者信息

Garte S, Gaspari L, Alexandrie A K, Ambrosone C, Autrup H, Autrup J L, Baranova H, Bathum L, Benhamou S, Boffetta P, Bouchardy C, Breskvar K, Brockmoller J, Cascorbi I, Clapper M L, Coutelle C, Daly A, Dell'Omo M, Dolzan V, Dresler C M, Fryer A, Haugen A, Hein D W, Hildesheim A, Hirvonen A, Hsieh L L, Ingelman-Sundberg M, Kalina I, Kang D, Kihara M, Kiyohara C, Kremers P, Lazarus P, Le Marchand L, Lechner M C, van Lieshout E M, London S, Manni J J, Maugard C M, Morita S, Nazar-Stewart V, Noda K, Oda Y, Parl F F, Pastorelli R, Persson I, Peters W H, Rannug A, Rebbeck T, Risch A, Roelandt L, Romkes M, Ryberg D, Salagovic J, Schoket B, Seidegard J, Shields P G, Sim E, Sinnet D, Strange R C, Stücker I, Sugimura H, To-Figueras J, Vineis P, Yu M C, Taioli E

机构信息

Environmental and Occupational Health Sciences Institute, University of Medicine and Dentistry of New Jersey, Piscataway, New Jersey 08854, USA.

出版信息

Cancer Epidemiol Biomarkers Prev. 2001 Dec;10(12):1239-48.

PMID:11751440

Abstract

Using the International Project on Genetic Susceptibility to Environmental Carcinogens (GSEC) database containing information on over 15,000 control (noncancer) subjects, the allele and genotype frequencies for many of the more commonly studied metabolic genes (CYP1A1, CYP2E1, CYP2D6, GSTM1, GSTT1, NAT2, GSTP, and EPHX) in the human population were determined. Major and significant differences in these frequencies were observed between Caucasians (n = 12,525), Asians (n = 2,136), and Africans and African Americans (n = 996), and some, but much less, heterogeneity was observed within Caucasian populations from different countries. No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.

摘要

利用国际环境致癌物遗传易感性项目（GSEC）数据库，该数据库包含15000多名对照（非癌症）受试者的信息，确定了人群中许多较常研究的代谢基因（CYP1A1、CYP2E1、CYP2D6、GSTM1、GSTT1、NAT2、GSTP和EPHX）的等位基因和基因型频率。在高加索人（n = 12525）、亚洲人（n = 2136）以及非洲人和非裔美国人（n = 996）之间观察到这些频率存在主要且显著的差异，并且在来自不同国家的高加索人群中观察到了一些（但程度小得多）异质性。未发现等位基因频率在年龄、性别或对照类型（医院患者与人群对照）方面存在差异。基于特定等位基因组合的观察频率与预期频率的比较，未检测到不同基因座之间的连锁不平衡实例。