赵武, 王剑, 沈捷, 傅启华, 吉炜, 李奋. VEGFA基因c.1039G>A单核苷酸多态性可能增加二叶式主动脉瓣的发生危险[J]. 蚌埠医学院学报, 2010, 35(10): 986-990.
    引用本文: 赵武, 王剑, 沈捷, 傅启华, 吉炜, 李奋. VEGFA基因c.1039G>A单核苷酸多态性可能增加二叶式主动脉瓣的发生危险[J]. 蚌埠医学院学报, 2010, 35(10): 986-990.
    ZHAO Wu, WANG Jian, SHEN Jie, FU Qi-hua, JI Wei, LI Fen. The c.1039 G>A single nucleotide polymorphisms in VEGFA gene are associated with the increased risk for bicuspid aortic valve[J]. Journal of Bengbu Medical College, 2010, 35(10): 986-990.
    Citation: ZHAO Wu, WANG Jian, SHEN Jie, FU Qi-hua, JI Wei, LI Fen. The c.1039 G>A single nucleotide polymorphisms in VEGFA gene are associated with the increased risk for bicuspid aortic valve[J]. Journal of Bengbu Medical College, 2010, 35(10): 986-990.

    VEGFA基因c.1039G>A单核苷酸多态性可能增加二叶式主动脉瓣的发生危险

    The c.1039 G>A single nucleotide polymorphisms in VEGFA gene are associated with the increased risk for bicuspid aortic valve

    • 摘要: 目的:探讨血管内皮生长因子A(vascular endothelial growth factor A,VEGFA)基因变化在二叶式主动脉瓣(bicuspid aortic valve,BAV)发生中的作用。方法:对74例BAV和300名正常对照VEGFA基因所有编码外显子及其侧翼序列进行测序分析,并对有碱基变化的患儿进行家系调查。结果:2例患儿存在c.1039 G>A(p.Val347Ile)杂合型单核苷酸多态性(SNP),1例患儿存在c.1039 G>A(p.Val347Ile)纯合型SNP,均未见报道。BAVVEGFA1039A等位基因频率(2.70%)高于正常对照组(0.33%)(P<0.05)。2例杂合型患儿其SNP遗传自母亲。纯合型患儿的家系中,8人为杂合型SNP携带者,2人为主动脉根部扩张,其中1人为杂合型SNP携带者。结论:VEGFA基因c.1039 G>A SNP可能增加BAV的发生危险。主动脉根部扩张和BAV可能有共同的发生危险因素。

       

      Abstract: Objective:To determine the role of vascular endothelial growth factor A (VEGFA) gene variation in the development of bicuspid aortic valve (BAV).Methods:A total of 74 unrelated pediatric patients with BAV were enrolled.Blood samples were collected from BAV patients and 300 healthy controls.All eight coding exons and exon-intron boundaries of the VEGFA gene were amplified and sequenced.Pedigree investigation was carried out by transthoracic echocardiography and corresponding sequence analysis in the patients who were confirmed to have a gene variation.Results:A heterozygous single nucleotide polymorphism (SNP) c.1039 G>A in exon 6 and a homozygous SNP c.1039 G>A in exon 6,which were not previously reported,were identified in two and one patient,respectively.These polymorphisms changed the protein sequence,replacing a valine by an isoleucine at residue 347 (p.Val347Ile) of the VEGFA protein.VEGFA 1039A allele frequency was more prevalent in BAV subjects than in controls (2.70% vs 0.33%,P<0.05).Having VEGFA 1039A allele presented increased risk for BAV (odds ratio 8.306,95% CI 1.507-45.788).For two heterozygous BAV patients,the G-to-A transition at cDNA position 1039 was transmitted from mothers.For homozygous BAV patients,8 family members were heterozygous carrier;2 family members were diagnosed as dilated aortic root,of which one was heterozygous carrier.Conclusions:The c.1039 G>A SNPs in the VEGFA may be associated with the increased risk for BAV.The dilated aortic root and BAV may share a common developmental risk factor.

       

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