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协会的cyclin D1 A870G多态与晚期结直肠癌
Loïc Le Marchand1, Ann Seifried, Annette Lum-Jones
1Etiology Program, Cancer Research Center of Hawaii, University of Hawaii, Honolulu, HI 96813, USA. loic@crch.hawaii.edu
CCND1 870A等位基因与增加结直肠癌的风险有关,特别是对于晚期的结直肠癌. 这种遗传变异可能与更严重的疾病结果有关.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 癌症生物学 癌症生物学
- 流行病学 流行病学
背景情况:
- 环素D1 (CCND1) 是一种关键的细胞循环调节剂,与人类瘤发育有关.
- 过度表达CCND1与增加的细胞增殖和较差的癌症预后相关.
- 一种常见的CCND1基因多态性 (A870G) 影响蛋白质的稳定性和功能,与寿命较长的蛋白质相关的A等位基因.
研究的目的:
- 调查CCND1 870A等位基因与结直肠癌 (CRC) 之间的关联.
- 检查CCND1 870A等位基因与CRC风险和严重程度的特定阶段关联.
- 探索CCND1 870A等位基因在CRC发育中的潜在基因剂量影响.
主要方法:
- 一项基于人口的病例控制研究在夏威夷进行.
- 该研究包括504例发生的结直肠癌病例和来自多民族人口的624例对照.
- 进行了CCND1 870A/G多态的基因定型,分析了基因剂量效应,癌症阶段和亚部位.
主要成果:
- 观察到基因剂量效应,与GG相比,GA的几率比为1.2和AA基因型的几率比为1.5,与GG相比.
- CCND1 870A等位基因与CRC风险之间的关联在区域/远程疾病阶段 (ORs分别为1.7和1.9) 显著更强.
- 在白人和夏威夷原住民参与者中,A基因与晚期CRC显著相关,并且与直肠癌更强烈.
结论:
- CCND1 870A等位基因可能导致结直肠癌的发展.
- 这种等位基因似乎与结直肠癌形式特别相关,导致严重的发病率和死亡率.
- 对CCND1 870A等位基因在CRC病原和预后中的作用进行进一步研究是有必要的.
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