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对携带囊性纤维化苯丙氨酸-508缺失杂合突变个体的肺功能进行的15年随访

Fifteen-year follow-up of pulmonary function in individuals heterozygous for the cystic fibrosis phenylalanine-508 deletion.

作者信息

Dahl M, Nordestgaard B G, Lange P, Tybjaerg-Hansen A

机构信息

Department of Clinical Biochemistry, Glostrup, Herlev, and Copenhagen University Hospital, Copenhagen, Denmark.

出版信息

J Allergy Clin Immunol. 2001 May;107(5):818-23. doi: 10.1067/mai.2001.114117.

DOI:10.1067/mai.2001.114117
PMID:11344348
Abstract

BACKGROUND

In a cross-sectional study, we previously showed that cystic fibrosis phenylalanine-508 deletion (DeltaF508) heterozygosity may be overrepresented among individuals with asthma.

OBJECTIVE

Using 15-year follow-up data from the Copenhagen City Heart Study, we now further explore this relationship.

METHODS

As part of 3 surveys in 1976 to 1978, 1981 to 1983, and 1991 to 1994, we measured pulmonary function and asked all participants about asthma and pulmonary risk factors.

RESULTS

There was no difference in annual decline in lung function between DeltaF508 heterozygotes and noncarriers overall; however, among individuals with familial asthma, the annual declines in FEV(1) and forced vital capacity (FVC) were 49 and 36 mL in DeltaF508 heterozygotes versus 24 and 17 mL in noncarriers (P =.01 and P =.12, respectively). Cross-sectionally based on triple measurements, FEV(1) and FVC in individuals aged 20 to 70 years were lower in heterozygous participants versus noncarriers (P =.02 and P =.004, respectively). The average reduction of FEV(1) and FVC in DeltaF508 heterozygotes versus noncarriers was 70 mL (P =.06) and 136 mL (P =.008). Finally, 10% of carriers reported asthma versus 7% of noncarriers (P =.02), resulting in an odds ratio of 2.0 (1.3-3.2) for asthma in DeltaF508 heterozygotes.

CONCLUSION

Cystic fibrosis DeltaF508 heterozygotes may be overrepresented among individuals with asthma and may have poorer lung function than noncarriers. Furthermore, DeltaF508 heterozygosity in context with familial predisposition to asthma may be associated with a greater annual FEV(1) decline.

摘要

背景

在一项横断面研究中,我们之前发现哮喘患者中囊性纤维化苯丙氨酸-508缺失(DeltaF508)杂合子的比例可能过高。

目的

利用哥本哈根市心脏研究的15年随访数据,我们现在进一步探究这种关系。

方法

作为1976年至1978年、1981年至1983年以及1991年至1994年3次调查的一部分,我们测量了肺功能,并询问所有参与者有关哮喘和肺部危险因素的情况。

结果

总体而言,DeltaF508杂合子与非携带者在肺功能的年下降率方面没有差异;然而,在有家族性哮喘的个体中,DeltaF508杂合子的第一秒用力呼气容积(FEV(1))和用力肺活量(FVC)的年下降量分别为49毫升和36毫升,而非携带者分别为24毫升和17毫升(P值分别为0.01和0.12)。基于三次测量的横断面数据,20至70岁的杂合子参与者的FEV(1)和FVC低于非携带者(P值分别为0.02和0.004)。DeltaF508杂合子与非携带者相比,FEV(1)和FVC的平均降低量分别为70毫升(P = 0.06)和136毫升(P = 0.008)。最后,10%的携带者报告患有哮喘,而非携带者为7%(P = 0.02),DeltaF508杂合子患哮喘的比值比为2.0(1.3 - 3.2)。

结论

囊性纤维化DeltaF508杂合子在哮喘患者中的比例可能过高,并且其肺功能可能比非携带者更差。此外,DeltaF508杂合性与哮喘家族易感性可能与FEV(1)的年下降幅度更大有关。

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