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【Science】TGFBR1 种系等位基因特异表达使得患结直
Much of the genetic predisposition to colorectal cancer (CRC) in humans is unexplained. Studying a Caucasian-dominated population in the United States, we showed that germline allele-specific expression (ASE) of the gene encoding transforming growth factor–β (TGF-β) type I receptor, TGFBR1, is a quantitative trait that occurs in 10 to 20% of CRC patients and 1 to 3% of controls. ASE results in reduced expression of the gene, is dominantly inherited, segregates in families, and occurs in sporadic CRC cases. Although subtle, the reduction in constitutive TGFBR1 expression alters SMAD-mediated TGF-β signaling. Two major TGFBR1 haplotypes are predominant among ASE cases, which suggests ancestral mutations, but causative germline changes have not been identified. Conservative estimates suggest that ASE confers a substantially increased risk of CRC (odds ratio, 8.7; 95% confidence interval, 2.6 to 29.1), but these estimates require confirmation and will probably show ethnic differences.
http://www.sciencemag.org/cgi/content/abstract/321/5894/1361 本人已认领该文编译，48小时后若未提交译文，请其他战友自由认领 。 Germline Allele-Specific Expression of TGFBR1 Confers an Increased Risk of Colorectal Cancer
TGFBR1种系等位特异性表达可增加结直肠癌的危险
Much of the genetic predisposition to colorectal cancer (CRC) in humans is unexplained.
大多数结直肠癌中的遗传易感性还无法解释。
Studying a Caucasian-dominated population in the United States, we showed that germline allele-specific expression (ASE) of the gene encoding transforming growth factor–β (TGF-β) type I receptor, TGFBR1, is a quantitative trait that occurs in 10 to 20% of CRC patients and 1 to 3% of controls.
对美国白种人研究，我们发现编码转化生长因子β（TGF-β）I型受体（TGFBR1）的基因的种系等位特异性表达（ASE）是一种连续变异的形状，可见于10-20%结直肠癌病人，而对照组仅为1-3%。
ASE results in reduced expression of the gene, is dominantly inherited, segregates in families, and occurs in sporadic CRC cases.
ASE导致该基因表达降低，主要见于遗传性、家族性分离人群，也可发生于散发性结直肠癌病人。Although subtle, the reduction in constitutive TGFBR1 expression alters SMAD-mediated TGF-β signaling.
尽管该基因表达轻微，但这种组成性的TGFBR1表达的降低改变了SMAD介导的TGF-β信号。Two major TGFBR1 haplotypes are predominant among ASE cases, which suggests ancestral mutations, but causative germline changes have not been identified.
虽然两种主要的TGFBR1单倍体主要见于ASE病例中，但成因性的种系改变尚未发现。Conservative estimates suggest that ASE confers a substantially increased risk of CRC (odds ratio, 8.7; 95% confidence interval, 2.6 to 29.1), but these estimates require confirmation and will probably show ethnic differences.
保守估计提示ASE改变本质上增加了结直肠癌的危险性（危害比为8.7；95%可信区间为2.6-29.1），但这些估计需要证实，也可能种族差异的结果。 TGFBR1种系等位特异性表达可增加结直肠癌的危险
大多数结直肠癌中的遗传易感性还无法解释。对美国白种人研究，我们发现编码转化生长因子β（TGF-β）I型受体（TGFBR1）的基因的种系等位特异性表达（ASE）是一种连续变异的形状，可见于10-20%结直肠癌病人，而对照组仅为1-3%。ASE导致该基因表达降低，主要见于遗传性、家族性分离人群，也可发生于散发性结直肠癌病人。尽管该基因表达轻微，但这种组成性的TGFBR1表达的降低改变了SMAD介导的TGF-β信号。虽然两种主要的TGFBR1单倍体主要见于ASE病例中，但成因性的种系改变尚未发现。保守估计提示ASE改变本质上增加了结直肠癌的危险性（危害比为8.7；95%可信区间为2.6-29.1），但这些估计需要证实，也可能种族差异的结果。 [标签:content1][标签:content2]
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作者:admin@医学,生命科学 2011-05-24 17:14
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