The association of eNOS gene polymorphism with avascular necrosis of femoral head

Necrosis of femoral head is a severe pathological state with multiple etiologies. This study investigated the association of the 27-bp repeat polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with the pathogenesis of avascular necrosis of...

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Veröffentlicht in:PloS one 2014-02, Vol.9 (2), p.e87583-e87583
Hauptverfasser: Zheng, Liwen, Wang, Wanchun, Ni, Jiangdon, Li, Zhihong, Xiao, Tao
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Li, Zhihong
Xiao, Tao
description Necrosis of femoral head is a severe pathological state with multiple etiologies. This study investigated the association of the 27-bp repeat polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with the pathogenesis of avascular necrosis of femoral head (ANFH). A total of 125 non-traumatic ANFH patients and 126 healthy controls were recruited for this study. The 27-bp repeat polymorphisms in intron 4 were analyzed by polymerase chain reaction (PCR) and sequencing. The G894T polymorphisms in exon 7 were analyzed by PCR- restriction fragment length polymorphism (PCR-RFLP) analysis. All alleles were observed in non-traumatic ANFH patients and control subjects. Both ANFH patients and idiopathic subgroup of ANFH patients showed higher frequency of the 4a/b genotype than controls (p = 0.001 and p = 0.020, respectively). Significantly higher frequency of G/T genotype was observed in ANFH patients and idiopathic subgroup of ANFH patients compared to controls (p = 0.009 and p = 0.035, respectively). eNOS gene polymorphisms may be a risk factor for ANFH. The 27-bp repeat polymorphism in intron 4, G894T polymorphism in exon 7, and subsequently reduced eNOS activity may be involved in the etiology of idiopathic ANFH.
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This study investigated the association of the 27-bp repeat polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with the pathogenesis of avascular necrosis of femoral head (ANFH). A total of 125 non-traumatic ANFH patients and 126 healthy controls were recruited for this study. The 27-bp repeat polymorphisms in intron 4 were analyzed by polymerase chain reaction (PCR) and sequencing. The G894T polymorphisms in exon 7 were analyzed by PCR- restriction fragment length polymorphism (PCR-RFLP) analysis. All alleles were observed in non-traumatic ANFH patients and control subjects. Both ANFH patients and idiopathic subgroup of ANFH patients showed higher frequency of the 4a/b genotype than controls (p = 0.001 and p = 0.020, respectively). Significantly higher frequency of G/T genotype was observed in ANFH patients and idiopathic subgroup of ANFH patients compared to controls (p = 0.009 and p = 0.035, respectively). eNOS gene polymorphisms may be a risk factor for ANFH. 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This study investigated the association of the 27-bp repeat polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with the pathogenesis of avascular necrosis of femoral head (ANFH). A total of 125 non-traumatic ANFH patients and 126 healthy controls were recruited for this study. The 27-bp repeat polymorphisms in intron 4 were analyzed by polymerase chain reaction (PCR) and sequencing. The G894T polymorphisms in exon 7 were analyzed by PCR- restriction fragment length polymorphism (PCR-RFLP) analysis. All alleles were observed in non-traumatic ANFH patients and control subjects. Both ANFH patients and idiopathic subgroup of ANFH patients showed higher frequency of the 4a/b genotype than controls (p = 0.001 and p = 0.020, respectively). Significantly higher frequency of G/T genotype was observed in ANFH patients and idiopathic subgroup of ANFH patients compared to controls (p = 0.009 and p = 0.035, respectively). eNOS gene polymorphisms may be a risk factor for ANFH. The 27-bp repeat polymorphism in intron 4, G894T polymorphism in exon 7, and subsequently reduced eNOS activity may be involved in the etiology of idiopathic ANFH.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24498338</pmid><doi>10.1371/journal.pone.0087583</doi><tpages>e87583</tpages><oa>free_for_read</oa></addata></record>
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subjects Adult
Aged
Alcoholism
Angiogenesis
Arthritis
Avascular necrosis
Base Sequence
Biology
Cardiovascular disease
Deoxyribonucleic acid
Development and progression
DNA
DNA Mutational Analysis
Endothelium
Enzymes
Etiology
Exons - genetics
Female
Femur
Femur Head Necrosis - genetics
Gangrene
Gene Frequency
Gene polymorphism
Genes
Genetic aspects
Genetic polymorphisms
Genetic Predisposition to Disease - genetics
Genotype
Genotypes
Hip joint
Hospitals
Humans
Male
Medical research
Medicine
Middle Aged
Necrosis
Nitric oxide
Nitric Oxide Synthase Type III - genetics
Nitric-oxide synthase
Orthopedics
Pathogenesis
Patients
Polymerase Chain Reaction
Polymorphism
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Repetitive Sequences, Nucleic Acid - genetics
Restriction fragment length polymorphism
Risk Factors
Smoking
Thrombosis
Trauma
title The association of eNOS gene polymorphism with avascular necrosis of femoral head
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