摘要BACKGROUND: Studies have shown that vascular endothelial growth factor (VEGF) gene polymorphisms highly correlate with sporadic amyotrophic lateral sclerosis (ALS), although this remains controversial. To date, the relationship between VEGF gene polymorphism and sporadic ALS in a Han Chinese population remains unclear.OBJECTIVE: To explore the relationship between sporadic ALS and VEGF gene promoter 7 locus polymorphisms in a Han Chinese population, and to investigate whether this relationship exhibits gender differences.DESIGN, TIME AND SETTING: A case-control study regarding genetic association was performed at the Central Laboratory of Peking University Third Hospital from 2002 to 2006.PARTICIPANTS: A total of 93 patients, who were diagnosed with definite or probable ALS according to E1 Escorial-revised diagnostic criteria, were selected from the Outpatient Department of Neurology, Peking University Third Hospital from 2002 to 2006. All patients were from Han populations, with no family history of ALS. In addition, 103 gender-and age-matched healthy volunteers were selected as controls.METHODS: Peripheral venous blood was collected, and whole blood genomic DNA was extracted.VEGF gene promoter 7 locus polymorphisms were analyzed by PCR using the fluorescent Taqman system. The relationship between VEGF gene promoter single nucleotide polymorphisms and ALS was analyzed using Logistic regression model analysis and was stratified according to gender.MAIN OUTCOME MEASURES: 7 VEGF gene promoter polymorphisms genotype distribution and allele freauencies.RESULTS: There were no significant differences in VEGF gene promoter 7 locus genotype distribution and allele frequency between case and control groups (P>0.05). Stratified analysis based on gender demonstrated that female Han subjects carrying the VEGF genotype -1154AA, -2549TT, -634CC genotype were more susceptible to ALS than those carrying -1154GG, -2549CC, -634GG (VEGF-1154AA: OR=8.9, 95%CI=1.0-77.3, P=0.047; VEGF-2549TT: OR=3.1,95% CI=1.0-9.6, P=0.049, VEGF-634CC: OR=0.2, 95%CI=0.1-0.7, P=0.012). Moreover, in female Han populations,people carrying allele -1154A, -2549T, -634C exhibited an increased risk of ALS (VEGF -1154A: OR=2.3, 95%CI=1.2 4.5, P=0.018; VEGF-2549T: OR=3.1, 95%CI=1.4-6.9, P=0.005; VEGF-634C:OR=0.5, 95%CI=0.3-0.9, P=0.015).CONCLUSION: Results showed that VEGF 7 gene promoter polymorphisms were associated with ALS in Han Chinese women. The VEGF gene -1154A, -2549T, -634C allele and -1154AA, -2549TT,-634CC genotype could function as susceptibility genes for ALS in Han Chinese women.