KNG1 Ile581Thr and susceptibility to venous thrombosis

被引：51

作者：

Morange, Pierre-Emmanuel ^{[1
,2
]}

Oudot-Mellakh, Tiphaine ^{[3
,4
]}

Cohen, William ^{[1
,2
]}

Germain, Marine ^{[3
,4
]}

Saut, Noemie ^{[1
,2
]}

Antoni, Guillemette ^{[3
,4
]}

Alessi, Marie-Christine ^{[1
,2
]}

Bertrand, Marion ^{[4
,5
]}

Dupuy, Anne-Marie ^{[6
]}

Letenneur, Luc ^{[7
,8
]}

Lathrop, Mark ^{[9
]}

Lopez, Lorna M. ^{[10
,11
]}

Lambert, Jean-Charles ^{[12
,13
,14
]}

Emmerich, Joseph ^{[15
]}

Amouyel, Philippe ^{[12
,13
,14
,16
]}

Tregouet, David-Alexandre ^{[3
,4
]}

机构：

[1] INSERM, UMR S 626, F-13258 Marseille, France

[2] Univ Aix Marseille 2, Marseille, France

[3] INSERM, UMR S 937, Paris, France

[4] Univ Paris 06, Paris, France

[5] INSERM, UMR S 708, Paris, France

[6] Hop La Colombiere, INSERM, U888, Montpellier, France

[7] INSERM, U897, F-33076 Bordeaux, France

[8] Univ Victor Segalen, Bordeaux, France

[9] Commissariat Energie Atom, Inst Genom, Ctr Natl Genotypage, Evry, France

[10] Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland

[11] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland

[12] INSERM, U744, F-59045 Lille, France

[13] Inst Pasteur, Lille, France

[14] Univ Lille Nord France, Lille, France

[15] Univ Paris 05, Hop Europeen Georges Pompidou, INSERM, Med Vasc HTA,U765, Paris, France

[16] CHRU Lille, Lille, France

来源：

BLOOD | 2011年 / 117卷 / 13期

关键词：

PARTIAL THROMBOPLASTIN TIME; DEEP-VEIN THROMBOSIS; ACTIVATION; PLASMA; RISK; ASSOCIATION; COAGULATION; CONTACT; KININOGEN; DISEASE;

D O I：

10.1182/blood-2010-11-319053

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Three single nucleotide polymorphisms (SNPs) were recently found to be associated with activated partial thromboplastin time (aPTT). Because shortened aPTT levels have been observed in patients experiencing venous thrombosis (VT), we investigated the effects of these 3 aPTT-associated SNPs, rs2731672, rs9898, and rs710446, on the risk of VT in a sample of 1110 healthy patients and 1542 patients with VT. Among the 3 tested SNPs, only rs710446 was associated with VT risk; the rs710446-C allele was associated with an increased risk of VT (odds ratio 1.196, 95% confidence interval 1.071-1.336, P = .0012). This association also was observed in an independent sample of 590 controls and 596 patients (odds ratio 1.171, 95% confidence interval 0.889-1.541, P = .059). We also confirmed that the rs710446-C allele was associated with decreased aPTT levels, making this nonsynonymous Ile581Thr variant a new genetic risk factor for VT. (Blood. 2011; 117(13): 3692-3694)

引用

页码：3692 / 3694

页数：3

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