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. 2013 Jul;37(7):1381-5.
doi: 10.1007/s00264-013-1892-7. Epub 2013 Apr 19.

Endothelial nitric oxide synthase gene intron 4 polymorphism in non-traumatic osteonecrosis of the femoral head

Jacek Gagala  1 , Monika Buraczynska, Tomasz Mazurkiewicz, Andrzej Ksiazek
Affiliations

Endothelial nitric oxide synthase gene intron 4 polymorphism in non-traumatic osteonecrosis of the femoral head

Jacek Gagala et al. Int Orthop. 2013 Jul.

Abstract

Purpose: Nitric oxide (NO) synthesised by endothelial NO synthase (eNOS) is a potent regulator of internal haemodynamics. A polymorphism in intron 4 of the eNOS is associated with different vascular disorders. We investigated the potential involvement of this polymorphism in idiopathic and secondary osteonecrosis of the femoral head (ONFH) in Polish patients.

Methods: We performed a study involving 68 patients with ONFH (45 idiopathic and 23 secondary) and 100 healthy controls. All subjects were genotyped for the eNOS4 polymorphism by the polymerase chain reaction followed by agarose gel electrophoresis.

Results: The analysis revealed that the frequencies of eNOS4 genotypes were significantly different in ONFH patients (both idiopathic and secondary) than in controls. The frequencies of the 4a allele were significantly higher in the total group of patients versus controls [22.79 vs 9%, p = 0.00039, odds ratio (OR) 2.98]. In subgroup analysis the 4a allele increased significantly in both idiopathic (20 vs 9%, p = 0.0074, OR = 2.52) and secondary (28.26 vs 9%, p = 0.00047, OR = 3.98) ONFH patients compared to control subjects. The frequency of the 4a/b genotype in the total group of patients (36.76 vs 16%, p = 0.0011, OR = 3.24) as well as patients with idiopathic (35.56 vs 16%, p = 0.0069, OR = 2.96) and secondary (39.13 vs 16 %, p = 0.0073, OR = 3.89) ONFH was higher than in the control group.

Conclusions: There was a significantly higher frequency of eNOS 4a allele carriers among the total group of patients as well as in idiopathic and secondary ONFH. This suggests that the eNOS gene polymorphism may be associated with increased risk of ONFH.

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Figures

Fig. 1
Fig. 1
a X-ray of a 42-year-old patient with idiopathic ONFH of both hips. b MRI scan presents the extent of osteonecrosis
Fig. 2
Fig. 2
X-ray of a 22-year-old patient with secondary steroid-induced ONFH of both hips
Fig. 3
Fig. 3
PCR product of the polymorphism in intron 4 of the eNOS gene
See this image and copyright information in PMC

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