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

赵武; 王剑; 沈捷; 傅启华; 吉炜; 李奋

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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

赵武 , 王剑 , 沈捷 , 傅启华 , 吉炜 , 李奋

文章导航 > 蚌埠医学院学报 > 2010, 35 > 10: (986-990)

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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

1. 上海交通大学医学院附属上海儿童医学中心心内科, 上海 200127;
2. 上海交通大学医学院附属上海儿童医学中心转化医学研究所, 上海 200127;
3. 上海交通大学附属儿童医院心内科, 上海 200040

作者简介: 赵武(1970-),男,博士,副主任医师,副教授(现工作于蚌埠医学院第-附属医院儿科,233004).

中图分类号: Q514.3

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

1. Department of Cardiology, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127;
2. Research Division of Birth Defects, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127;
3. Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai 200040, China
CLC number: Q514.3

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。
- 血管内皮生长因子A /
- 单核苷酸多态性 /
- 二叶式主动脉瓣
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.
- vascular endothelial growth factor A /
- single nucleotide polymorphism /
- bicuspid aortic valve

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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

作者简介: 赵武(1970-),男,博士,副主任医师,副教授(现工作于蚌埠医学院第-附属医院儿科,233004).

1. 上海交通大学医学院附属上海儿童医学中心心内科, 上海 200127;
2. 上海交通大学医学院附属上海儿童医学中心转化医学研究所, 上海 200127;
3. 上海交通大学附属儿童医院心内科, 上海 200040

收稿日期: 2010-03-16

关键词:

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。

English Abstract

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

1. Department of Cardiology, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127;
2. Research Division of Birth Defects, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127;
3. Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai 200040, China

Received Date: 2010-03-16

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.