The association of eNOS gene polymorphism with avascular necrosis of femoral head.
OBJECTIVE
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).


METHODS
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.


RESULTS
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).


CONCLUSIONS
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.
Department of Orthopedics, 2nd Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Liwen
L
Zheng
Department of Orthopedics, 2nd Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Wanchun
W
Wang
Department of Orthopedics, 2nd Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Jiangdon
J
Ni
Department of Orthopedics, 2nd Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Zhihong
Z
Li
Department of Orthopedics, 2nd Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Tao
T
Xiao
D000328:Adult; D000368:Aged; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005271:Femur Head Necrosis / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D012307:Risk Factors
C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III