Am. J. Respir. Crit. Care Med., Volume 162, Number 5, November 2000, 1679-1684

Application of an Algorithm for the Diagnosis of Asthma in Chinese Families
Limitations and Alternatives for the Phenotypic Assessment of Asthma in Family-based Genetic Studies

JUAN C. CELEDON, EDWIN K. SILVERMAN, SCOTT T. WEISS, BINYAN WANG, ZHIAN FANG, and XIPING XU

Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital; Division of Pulmonary and Critical Care Medicine, Beth Israel Deaconess Medical Center; Harvard Medical School; and Program of Population Genetics, Harvard School of Public Health, Boston, Massachusetts; and Anhui Medical University Center for Ecogenetics and Disease Control, Anqing, China

Phenotype assessment is a crucial issue in gene mapping studies of asthma. Recently, Panhuysen and coworkers proposed an algorithm to define the asthma phenotype in gene mapping family-based studies. We classified members of 2,756 Chinese families ascertained on the basis of the presence of two or more siblings and no more than one parent with asthma using a slightly modified version of the aforementioned algorithm. Among 4,097 Chinese parents, 404 (9.9%) were classified as having "definite asthma," 284 (6.9%) as "probable asthma," 1,193 (29.1%) as "unclassifiable obstructive airway disease," 626 (15.3%) as "COPD," and 1,590 (38.8%) as "unaffected" (no obstructive airway disease). Among 6,424 Chinese offspring, 1,065 (16.6%) were classified as having "definite asthma," 820 (12.8%) as "probable asthma," 1,996 (31.1%) as "unclassifiable obstructive airway disease," 228 (3.5%) as "COPD," and 2,315 (36%) as "unaffected." The use of the algorithm proposed by Panhuysen and coworkers in a Chinese population with a high prevalence of smoking would result in the exclusion of subjects with asthma who smoke or who have severe airflow obstruction from linkage analysis, as well as in an inability to explore any potential interactions between genetic factors and cigarette smoking in the pathogenesis of asthma. In the absence of a "gold standard," definitions of asthma that incorporate a combination of respiratory symptoms, increased airway responsiveness or bronchodilator response, and a physician's diagnosis of asthma are reasonable. The choice of a particular diagnostic algorithm for family-based genetic studies of asthma should be made according to factors such as the prevalence of smoking in the study population. Genetic studies of intermediate phenotypes related to asthma, which are objectively defined and may be influenced by a smaller number of genes, continue to be of great importance.

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