Factor V Leiden and the prothrombin 20210A gene mutation and osteonecrosis of the knee

Björkman, Anders; Burtscher, Isabella M.; Svensson, Peter; Hillarp, Andreas; Besjakov, Jack; Benoni, Göran

doi:10.1007/s00402-004-0760-8

Cited by 58 publications

(63 citation statements)

References 26 publications

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“…When patients were further divided into etiologic groups, such a statistical significance was observed only in the alcohol-induced group ( Table 2). Most of our patients (51 of 71 patients, 71.8%) had alcohol-induced ONFH in contrast to studies of Caucasians, in which most patients had idiopathic or steroid-induced ONFH [4,[26][27][28]. Ours may be the largest genetic study on alcohol-induced Two patients with steroid therapy (n = 1) and dysbarism (n = 1) were included in total patients with ONFH; * reference category (odds ratio, 1.0); statistically significant; MTHFR = methylenetetrahydrofolate reductase; ONFH = osteonecrosis of the femoral head; CI = confidence interval; ND = not determined.…”

Section: Discussioncontrasting

confidence: 90%

“…Although ONFH can be caused by various conditions such as trauma, glucocorticoid therapy, alcoholism, storage diseases, and diseases resulting in vasculitis, except for traumatic conditions, the pathogenesis of osseous ischemia is not yet completely understood [3,4,28]. Recently, a number of authors have proposed intravascular coagulation as a pathogenetic mechanism of ONFH [10], with resulting interruption of the fine osseous blood supply.…”

Section: Introductionmentioning

confidence: 99%

“…Major genetic mutations related to coagulation abnormalities are factor V G1691A mutation (factor V Leiden), prothrombin G20210A mutation, and 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms [4,9,22]. The presence of these genetic variations is associated with a hypercoagulable state, and increases the risk of thromboembolic events.…”

Section: Introductionmentioning

confidence: 99%

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Genetic Background of Nontraumatic Osteonecrosis of the Femoral Head in the Korean Population

Chang

Hur

Lee

et al. 2008

Clinical Orthopaedics &Amp; Related Research

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Major thrombophilic mutations have been identified as risk factors for nontraumatic osteonecrosis of the femoral head (ONFH) in Caucasians. We asked whether the genetic background of patients with ONFH in the Korean population was similar. We analyzed factor V G1691A mutation (factor V Leiden), prothrombin G20210A mutation, and methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in 71 patients (53 men, 18 women) with ONFH. We classified these patients as 51 alcohol-induced, 18 idiopathic, one steroid-induced, and one dysbaric. We recruited 200 normal control subjects (128 men, 72 women). We used multiplex PCR/restriction fragment length polymorphism for each genotyping. We observed neither factor V Leiden nor prothrombin G20210A mutation. Although methylenetetrahydrofolate reductase A1298C genotypes were not associated with osteonecrosis, methylenetetrahydrofolate reductase C677T variant genotypes increased the risk of ONFH compared with 677CC. Odds ratios of 677CT and 677CT+TT were 2.00 (95% confidence interval, 1.05-3.81) and 1.96 (95% confidence interval, 1.07-3.59), respectively, compared with 677CC. Our data suggest methylenetetrahydrofolate reductase C677T polymorphism plays a role in the pathogenesis of osteonecrosis in the Korean population. It also implies the genetic risk profile of ONFH may differ among ethnic populations.

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Section: Discussioncontrasting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genetic Background of Nontraumatic Osteonecrosis of the Femoral Head in the Korean Population

Chang

Hur

Lee

et al. 2008

Clinical Orthopaedics &Amp; Related Research

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“…The characteristics of the 7 studies included in the present meta-analysis are provided in Table I ( [8][9][10][11][12][13][14]. We reviewed 57 potentially relevant citations and abstracts obtained after a search of PubMed was conducted (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…It was reported that FVL was associated with thrombo embolic diseases such as symptomatic pulmonary embolism, deep vein thrombosis and myocardial infarction (6,7). Several case-control studies have been conducted to examine the association between FVL and ONFH (8)(9)(10)(11)(12)(13)(14). However, some studies have shown inconsistent or even contradictory results.…”

Section: Introductionmentioning

confidence: 99%

Meta-analysis of Factor V Leiden G1691A polymorphism and osteonecrosis of femoral head susceptibility

et al. 2013

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Abstract. Testing for genetic risk associations betweenFactor V Leiden (FVL) and the osteonecrosis of femoral head (ONFH) is common, however, inconsistent results have been previously obtained. To summarize results on the association of FVL mutation polymorphism with ONFH in various populations and to calculate the overall genetic risk factors, we performed a search of electronic databases including PubMed, Elsevier Science Direct, Chinese National Knowledge Infrastructure and the Chinese Biomedical Database to identify published studies correlating the FVL mutation with ONFH. Statistical analysis was performed using Review Manager (RevMan) version 5.0 and Stata statistical software (version 10). We identified 57 titles and included 7 studies comprising 481 cases and 867 controls in this meta-analysis. The groups were pooled, and a significant association between FVL mutation and increased ONFH was found (OR=4.55, 95% CI, 2.75-7.52, P<0.00001). This meta-analysis demonstrated that FVL plays an important role in non-Asian populations. Large sample studies including different ethnic groups and age-and gender-matched groups, as well as multiple gene polymorphism detection should be considered to clarify the association of FVL mutation polymorphism and ONFH susceptibility in the future.

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Chapter 91. Ischemic and Infiltrative Disorders

Keen¹

2008

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

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Factor V Leiden and the prothrombin 20210A gene mutation and osteonecrosis of the knee

Abstract: The results of this study suggest that coagulation abnormalities in the form of factor V Leiden and the prothrombin 20210A gene mutation might play a role in osteonecrosis of the knee.

Cited by 58 publications

References 26 publications

Genetic Background of Nontraumatic Osteonecrosis of the Femoral Head in the Korean Population

Genetic Background of Nontraumatic Osteonecrosis of the Femoral Head in the Korean Population

Meta-analysis of Factor V Leiden G1691A polymorphism and osteonecrosis of femoral head susceptibility

Chapter 91. Ischemic and Infiltrative Disorders

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