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首页> 外文期刊>PLoS Genetics >A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study
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A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study

机译：基因组 - 跨越术心研究中肺功能措施的基因组协会研究

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The ratio of forced expiratory volume in one second to forced vital capacity (FEV1/FVC) is a measure used to diagnose airflow obstruction and is highly heritable. We performed a genome-wide association study in 7,691 Framingham Heart Study participants to identify single-nucleotide polymorphisms (SNPs) associated with the FEV1/FVC ratio, analyzed as a percent of the predicted value. Identified SNPs were examined in an independent set of 835 Family Heart Study participants enriched for airflow obstruction. Four SNPs in tight linkage disequilibrium on chromosome 4q31 were associated with the percent predicted FEV1/FVC ratio with p-values of genome-wide significance in the Framingham sample (best p-value?=?3.6e-09). One of the four chromosome 4q31 SNPs (rs13147758; p-value 2.3e-08 in Framingham) was genotyped in the Family Heart Study and produced evidence of association with the same phenotype, percent predicted FEV1/FVC (p-value?=?2.0e-04). The effect estimates for association in the Framingham and Family Heart studies were in the same direction, with the minor allele (G) associated with higher FEV1/FVC ratio levels. Results from the Family Heart Study demonstrated that the association extended to FEV1 and dichotomous airflow obstruction phenotypes, particularly among smokers. The SNP rs13147758 was associated with the percent predicted FEV1/FVC ratio in independent samples from the Framingham and Family Heart Studies producing a combined p-value of 8.3e-11, and this region of chromosome 4 around 145.68 megabases was associated with COPD in three additional populations reported in the accompanying manuscript. The associated SNPs do not lie within a gene transcript but are near the hedgehog-interacting protein (HHIP) gene and several expressed sequence tags cloned from fetal lung. Though it is unclear what gene or regulatory effect explains the association, the region warrants further investigation.
机译：强制呼气量在一秒钟内到强制生命能力（FEV1 / FVC）的比例是用于诊断气流阻塞的措施，并且是高度遗传的。我们在7,691 ramingham心脏研究参与者中进行了一个基因组 - 型协会研究，以鉴定与FEV1 / FVC比相关的单核苷酸多态性（SNP），分析为预测值的百分比。在一组独立的835家家庭心脏研究参与者中检查了鉴定的SNP，丰富了气流阻塞。紧密连锁染色体的四个SNP与染色体4Q31上的百分比与FRAMINGHAM样品中的基因组显着性的P值相关的百分比（最佳p值？= 3.6e-09）相关。在家庭心脏研究中，四种染色体4q31 SNP（rs13147758; rs13147758; p值2.3e-08）在家庭心脏研究中进行基因分型，并产生与相同的表型相关的证据，预测的FEV1 / FVC（p值？=？2.0 E-04）。在框架和家庭心脏研究中的关联的效果估计呈同样方向，具有与更高的FEV1 / FVC比率水平相关的次要等位基因（G）。家族心脏研究的结果证明，关联扩展到FEV1和二分法气流障碍表型，特别是吸烟者。 SNP RS13147758与来自Framingham的独立样品中的预测FEV1 / FVC比率百分比与产生8.3E-11的组合P值的百分比样本相关联，染色体4甲基菌株4甲基酶与COPD有关伴随的稿件报告了其他人口。相关的SNP不在基因转录物中，但近刺猬相互作用蛋白（Hhip）基因和从胎儿肺部克隆的几种表达序列标签。虽然目前尚不清楚基因或监管效果解释协会，但该区域认证进一步调查。

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