Biswas Arijit, Bajaj Jyoti, Ranjan Ravi, Meena Arvind, Akhter Mohd Suhail, Yadav Birendra Kumar, Sharma Vinita, Saxena Renu
Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.
Clin Chim Acta. 2008 Jun;392(1-2):21-4. doi: 10.1016/j.cca.2008.02.018. Epub 2008 Feb 25.
Deep vein thrombosis is a condition, which has several acquired as well as genetic causes. One of the most common reasons for deep vein thrombosis is activated protein C resistance caused by Factor V Leiden.
We examined the risk posed by Factor V Leiden, Hong Kong/Cambridge and HR2 Haplotype mutations in 155 deep vein thrombosis patients and 120 healthy controls in the background of activated protein C resistance.
Thirty-one of our patients showed activated protein C resistance of which only 16 carried Factor V Leiden mutation which was a far lower number than what is usually seen in Caucasian population. Factor V Leiden mutation was significantly associated with the risk of deep vein thrombosis (Yates corrected p-value=0.002; 95%CI; odds ratio: 13.7). Factor V Hong Kong/Cambridge and HR2 Haplotype were not found to be associated with the risk of deep vein thrombosis. There is a possibility that Factor V HR2 Haplotype might also be associated with activated protein C resistance even in the absence of Factor V Leiden.
Factor V Leiden mutation was seen to contribute far less towards activated protein C resistance in Asian-Indian deep vein thrombosis patients than what has been commonly observed in Caucasians.
深静脉血栓形成是一种由多种后天因素及遗传因素导致的病症。因子V莱顿突变引发的活化蛋白C抵抗是深静脉血栓形成最常见的原因之一。
在活化蛋白C抵抗的背景下，我们检测了155例深静脉血栓形成患者及120例健康对照中因子V莱顿、香港/剑桥及HR2单倍型突变所带来的风险。
我们的31例患者表现出活化蛋白C抵抗，其中仅有16例携带因子V莱顿突变，这一数字远低于高加索人群中的常见情况。因子V莱顿突变与深静脉血栓形成风险显著相关（耶茨校正P值=0.002；95%置信区间；比值比：13.7）。未发现因子V香港/剑桥及HR2单倍型与深静脉血栓形成风险相关。即使在不存在因子V莱顿的情况下，因子V HR2单倍型也有可能与活化蛋白C抵抗相关。
在亚洲印度裔深静脉血栓形成患者中，因子V莱顿突变对活化蛋白C抵抗的影响远小于高加索人群中的常见情况。
