Division of Medical Genetics, Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute, Torrance, CA, USA.
Prostaglandins Other Lipid Mediat. 2012 Jan;97(1-2):22-8. doi: 10.1016/j.prostaglandins.2011.07.006. Epub 2011 Jul 28.
Intestinal tumors in Apc(Min/+) mice are suppressed by over-production of HPGDS, which is a glutathione transferase that forms prostaglandin D(2) (PGD(2)). We characterized naturally occurring HPGDS isoenzymes, to see if HPGDS variation is associated with human colorectal cancer risk. We used DNA heteroduplex analysis and sequencing to identify HPGDS variants among healthy individuals. HPGDS isoenzymes were produced in bacteria, and their catalytic activities were tested. To determine in vivo effects, we conducted pooled case-control analyses to assess whether there is an association of the isoenzyme with colorectal cancer. Roughly 8% of African Americans and 2% of Caucasians had a highly stable Val187lle isoenzyme (with isoleucine instead of valine at position 187). At 37°C, the wild-type enzyme lost 15% of its activity in 1h, whereas the Val187Ile form remained >95% active. At 50°C, the half life of native HPGDS was 9min, compared to 42 min for Val187Ile. The odds ratio for colorectal cancer among African Americans with Val187Ile was 1.10 (95% CI, 0.75-1.62; 533 cases, 795 controls). Thus, the Val187Ile HPGDS isoenzyme common among African Americans is not associated with colorectal cancer risk. Other approaches will be needed to establish a role for HPGDS in occurrence of human intestinal tumors, as indicated by a mouse model.
Apc(Min/+) 小鼠的肠道肿瘤受到 HPGDS 过度表达的抑制,HPGDS 是一种形成前列腺素 D(2) (PGD(2))的谷胱甘肽转移酶。我们对天然存在的 HPGDS 同工酶进行了特征描述,以确定 HPGDS 变异是否与人类结直肠癌风险相关。我们使用 DNA 异源双链分析和测序来鉴定健康个体中的 HPGDS 变体。在细菌中产生 HPGDS 同工酶,并测试其催化活性。为了确定体内效应,我们进行了汇总病例对照分析,以评估同工酶与结直肠癌是否存在关联。大约 8%的非裔美国人和 2%的白种人有一种高度稳定的 Val187lle 同工酶(第 187 位的异亮氨酸取代缬氨酸)。在 37°C 下,野生型酶在 1 小时内失去了 15%的活性,而 Val187Ile 形式仍保持 >95%的活性。在 50°C 下,天然 HPGDS 的半衰期为 9 分钟,而 Val187Ile 为 42 分钟。非裔美国人中 Val187Ile 与结直肠癌的比值比为 1.10(95%CI,0.75-1.62;533 例,795 例对照)。因此,在非裔美国人中常见的 Val187Ile HPGDS 同工酶与结直肠癌风险无关。需要其他方法来确定 HPGDS 在人类肠道肿瘤发生中的作用,正如小鼠模型所表明的那样。