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Coancestry in Apparently Sporadic Primary Pulmonary Hypertension FREE TO VIEW

Greg Elliott; Gary Alexander; Mark Leppert; Sandy Yeates; Richard Kerber
Author and Funding Information

Affiliations: From the Pulmonary Divisions and the Departments of Medicine of the LDS Hospital and the University of Utah, University of Utah, Salt Lake City,  From the Department of Human Genetics, University of Utah, Salt Lake City,  From the Department of Family and Preventive Medicine, University of Utah, Salt Lake City

Affiliations: From the Pulmonary Divisions and the Departments of Medicine of the LDS Hospital and the University of Utah, University of Utah, Salt Lake City,  From the Department of Human Genetics, University of Utah, Salt Lake City,  From the Department of Family and Preventive Medicine, University of Utah, Salt Lake City

Affiliations: From the Pulmonary Divisions and the Departments of Medicine of the LDS Hospital and the University of Utah, University of Utah, Salt Lake City,  From the Department of Human Genetics, University of Utah, Salt Lake City,  From the Department of Family and Preventive Medicine, University of Utah, Salt Lake City


1995 BY THE AMERICAN COLLEGE OF CHEST PHYSICIANS


Chest. 1995;108(4):973-977. doi:10.1378/chest.108.4.973
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Abstract

Objective: To examine sporadic cases of primary pulmonary hypertension for coancestry.

Design: An epidemiologic study of families of patients with primary pulmonary hypertension.

Setting: A university-affiliated referral population.

Participants: Family members of 13 patients with primary pulmonary hypertension.

Measurements: Family pedigrees involving grandparents, parents, siblings, and children were supplemented by genealogic records. Coefficients of kinship (CK) were calculated for the patients with primary pulmonary hypertension who demonstrated coancestry and compared with 500 sets of controls drawn at random from genealogic records.

Results: Two patients with sporadic primary pulmonary hypertension demonstrated coancestry. The great-great grandfather and great-great grandmother of one patient were the great-grandfather and great-grandmother of the other patient. No other cases of primary pulmonary hypertension were identified in these two families. The CK of the affected individuals (CK=10.02x10−5) suggests strongly that the observed relationship did not occur by chance alone. Among 500 random sets of matched controls, only two sets yielded CK of 10.02x10−5 or greater (p=0.004). Coancestry could not be identified for the other five families of patients with sporadic primary pulmonary hypertension for whom genealogic records were available.

Conclusions: The finding of coancestry in patients with sporadic primary pulmonary hypertension suggests that a genetic basis exists for some patients with apparently sporadic primary pulmonary hypertension. Familial primary pulmonary hypertension may be more common than previously recognized.


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