Wang X, Moylan B, Leopold D A, Kim J, Rubenstein R C, Togias A, Proud D, Zeitlin P L, Cutting G R
McKusick-Nathans Institute of Genetic Medicine, CMSC 1004, Baltimore, MD 21287, USA.
JAMA. 2000 Oct 11;284(14):1814-9. doi: 10.1001/jama.284.14.1814.
Chronic rhinosinusitis (CRS) is a common condition in the US general population, yet little is known about its underlying molecular cause. Chronic rhinosinusitis is a consistent feature of the autosomal recessive disorder cystic fibrosis (CF).
To determine whether mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, which is responsible for CF, predispose to CRS.
Case-control study conducted from 1996 to 1999 in which the DNA of CRS patients and controls was typed for 16 mutations that account for 85% of CF alleles in the general population. Chronic rhinosinusitis patients with 1 CF mutation were evaluated for a CF diagnosis by sweat chloride testing, nasal potential difference measurement, and DNA analysis for additional mutations.
Otolaryngology-head and neck clinic of a US teaching hospital.
One hundred forty-seven consecutive adult white patients who met stringent diagnostic criteria for CRS and 123 CRS-free white control volunteers of similar age range, geographic region, and socioeconomic status.
Presence of CF mutations by DNA analysis among CRS patients vs controls.
Eleven CRS patients were found to have a CF mutation (DeltaF508, n = 9; G542X, n = 1; and N1303K, n = 1). Diagnostic testing excluded CF in 10 of these patients and led to CF diagnosis in 1. Excluding this patient from the analyses, the proportion of CRS patients who were found to have a CF mutation (7%) was significantly higher than in the control group (n = 2 [2%]; P =.04, both having DeltaF508 mutations). Furthermore, 9 of the 10 CF carriers had the polymorphism M470V, and M470V homozygotes were overrepresented in the remaining 136 CRS patients (P =.03).
These data indicate that mutations in the gene responsible for CF may be associated with the development of CRS in the general population. JAMA. 2000;284:1814-1819.
慢性鼻-鼻窦炎（CRS）在美国普通人群中很常见，但其潜在的分子病因却鲜为人知。慢性鼻-鼻窦炎是常染色体隐性疾病囊性纤维化（CF）的一个持续特征。
确定导致囊性纤维化的囊性纤维化跨膜传导调节因子（CFTR）基因突变是否易引发慢性鼻-鼻窦炎。
1996年至1999年进行的病例对照研究，对慢性鼻-鼻窦炎患者和对照者的DNA进行16种突变检测，这些突变占普通人群中CF等位基因的85%。对携带1种CF突变的慢性鼻-鼻窦炎患者通过汗液氯化物检测、鼻电位差测量及其他突变的DNA分析来评估是否患有囊性纤维化。
美国一家教学医院的耳鼻喉头颈科门诊。
147名连续入选的符合CRS严格诊断标准的成年白人患者，以及123名年龄范围、地理区域和社会经济地位相似的无CRS的白人对照志愿者。
通过DNA分析比较CRS患者与对照者中CF突变的存在情况。
发现11名CRS患者有CF突变（ΔF508，9例；G542X，1例；N1303K，1例）。诊断检测排除了其中10例患者的CF诊断，1例确诊为CF。将该确诊患者排除在分析之外，CRS患者中发现有CF突变的比例（7%）显著高于对照组（2例[2%]；P = 0.04，均为ΔF508突变）。此外，10名CF携带者中有9名具有多态性M470V，在其余136名CRS患者中M470V纯合子比例过高（P = 0.03）。
这些数据表明，导致CF的基因突变可能与普通人群中CRS的发生有关。《美国医学会杂志》。2000年；284：1814 - 1819。
