Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.
Am J Reprod Immunol. 2010 Jul 1;64(1):68-76. doi: 10.1111/j.1600-0897.2010.00820.x. Epub 2010 Feb 28.
To investigate the contribution of genomic variations in the indoleamine 2,3-dioxygenase (IDO) gene to the onset of pre-eclampsia.
We examined sequence variations in the IDO1 gene using placental genomic DNA from 35 pre-eclamptic patients and 32 normotensive pregnant women.
A case-control study revealed that none of the common variants influences the risk of disease. Sequencing of each IDO1 exon in diseased subjects revealed rare variants. This variation, c.-147_150delGAAA, was located within the 5'-untranslated region of the IDO1 gene, and its homozygote was identified only in pre-eclamptic subjects. However, despite the low levels of IDO expression and enzyme activity in the c.-147_150delGAAA homozygote, reporter assays indicated that this variation does not affect gene expression.
Our findings indicate that genetic alteration of fetal IDO gene does not appear to be a primary cause of pre-eclampsia.
探讨色氨酸 2,3-双加氧酶（IDO）基因中的基因组变异对先兆子痫发病的影响。
我们使用 35 例先兆子痫患者和 32 例正常妊娠孕妇的胎盘基因组 DNA 研究 IDO1 基因的序列变异。
病例对照研究显示，常见变异均不影响疾病风险。对疾病患者的每个 IDO1 外显子进行测序发现了罕见变异。这种变异 c.-147_150delGAAA 位于 IDO1 基因的 5'-非翻译区，其纯合子仅在先兆子痫患者中发现。然而，尽管 c.-147_150delGAAA 纯合子中的 IDO 表达和酶活性水平较低，但报告基因检测表明该变异不影响基因表达。
我们的研究结果表明，胎儿 IDO 基因的遗传改变似乎不是先兆子痫的主要原因。
