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BACKGROUND: Studies have shown that vascular endothelial growth factor (VEGF) genepolymorphisms highly correlate with sporadic amyotrophic lateral sclerosis (ALS), although thisremains controversial. To date, the relationship between VEGF gene polymorphism and sporadicALS in a Han Chinese population remains unclear.OBJECTIVE: To explore the relationship between sporadic ALS and VEGF gene promoter 7 locuspolymorphisms in a Han Chinese population, and to investigate whether this relationship exhibitsgender differences.DESIGN, TIME AND SETTING: A case-control study regarding genetic association was performedat 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 ALSaccording to E1 Escorial-revised diagnostic criteria, were selected from the Outpatient Departmentof Neurology, Peking University Third Hospital from 2002 to 2006. All patients were from Hanpopulations, with no family history of ALS. In addition, 103 gender- and age-matched healthyvolunteers 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 Taqmansystem. The relationship between VEGF gene promoter single nucleotide polymorphisms and ALSwas analyzed using Logistic regression model analysis and was stratified according to gender.MAIN OUTCOME MEASURES: 7 VEGF gene promoter polymorphisms genotype distribution andallele frequencies.RESULTS: There were no significant differences in VEGF gene promoter 7 locus genotype distributionand allele frequency between case and control groups (P > 0.05). Stratified analysis based on genderdemonstrated that female Han subjects carrying the VEGF genotype -1154AA, -2549TT, -634CCgenotype were more susceptible to ALS than those carrying -1154GG, -2549CC, -634GG(VEGF-1154AA: OR = 8.9, 95%C/= 1.0 77.3, P = 0.047; VEGF-2549TT: OR = 3.1,95% Cl= 1.0 9.6, P =0.049, VEGF-634CC: OR = 0.2, 95%C/= 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%C/= 1.2 4.5, P= 0.018; VEGF-2549T: OR= 3.1,95%C/= 1.4-6.9, P= 0.005; VEGF-634C:OR = 0.5, 95%C/= 0.3 0.9, P = 0.015).CONCLUSION: Results showed that VEGF 7 gene promoter polymorphisms were associated withALS 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.
BACKGROUND: Studies have shown that VEGF gene polymorphism and sporadicALS in a Han Chinese population remains unclear. OBJECTIVE: To explore the relationship between sporadic ALS and VEGF gene promoter 7 locuspolymorphisms in a Han Chinese population, and to investigate whether this relationship exhibits gender differences. DATA, 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 ALSaccording 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 Hanpopulations, with no family hist ory 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 Taqmansystem . The relationship between VEGF gene promoter single nucleotide polymorphisms and ALSwas analyzed using Logistic regression model analysis and was stratified according to gender .MAIN OUTCOME MEASURES: 7 VEGF gene promoter polymorphisms genotype distribution andallele frequencies .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% C / = 1.077.3, P = 0.047; VEGF-2549TT: OR= 3.1, 95% Cl = 1.0 9.6, P = 0.049, VEGF-634CC: OR = 0.2, 95% C / = 0.1 0.7, P = , -634C exhibited an increased risk of ALS (VEGF-1154A: OR = 2.3, 95% C / = 1.2 4.5, P = 0.018; VEGF-2549T: OR = 3.1,95% C / = 1.4-6.9, P = 0.005 ; VEGF-634C: OR = 0.5, 95% C / = 0.3 0.9, P = 0.015) .CONCLUSION: Results showed that VEGF 7 gene promoter polymorphisms were associated with ALA 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.