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Eur Respir J 2001; 18:1078
Copyright ©ERS Journals Ltd 2001


From the Authors

A. Barcelò1, F. Barbé2 and A.G.N. Agustí2

1 Servei de Pneumologia and 2 Anàlises Cliniques, Hospital Universitari Son Dureta, Palma de Mallorca, Spain

From the authors:

We thank S. Teramoto and colleagues for their interest in our paper, and we would like to respond to some of their comments. Although we explored angiotensin converting enzyme (ACE) gene polymorphisms in patients with obstructive sleep apnoea syndrome (OSAS), our paper focused on the ACE plasma activity in these patients. We think that its major contribution was to show increased ACE activity in their plasma, as compared to healthy controls. We stated in several paragraphs of our paper that the studies on prevalence of the different polymorphisms of the ACE gene have to be carried out in larger populations. Our data does not exclude a possible pathogenetic role of mutations of the ACE gene in OSAS patients, but we believe that genetic studies based on relatively small populations must be interpreted with caution. It is, therefore, difficult to accept, as suggested by S. Teramoto and colleagues, that the frequency of the I allele and the II genotype are higher in Chinese patients with moderate to severe OSAS based on a population of only 34 individuals.

Another point to take into account in this discussion is the possibility that the association between ACE gene polymorphisms and OSAS may be different in Caucasian and Asiatic individuals; we agree with S. Teramoto and colleagues that further confirmation is needed in both populations.

Finally, we agree that the risk of developing cardiovascular complications in patients with obstructive sleep apnoea syndrome may be associated with a genetic susceptibility. However, we are just beginning to uncover this field, and results must be evaluated with caution due to the potential bias in these studies. For example, two recent large studies have published apparently contradictory results about the relationship of apoE epsilon 4 to sleep breathing disorders 1, 2. Thus, any confirmation or exclusion of the possible connection between candidate gene polymorphisms and obstructive sleep apnoea syndrome remains unproven and requires large prospective studies.

References

  1. Saarelainen S, Lehtimäki T, Kallonen E, Laasonen K, Poussa T, Nieminen MM. No relation between apolipoprotein E alleles and obstructive sleep apnea. Clin Genet 1998;53:147–148.[ISI][Medline] [Order article via Infotrieve]
  2. Kadotani H, Kadotani T, Young T, et al. Association between apolipoprotein E epsilon 4 and sleep disordered breathing in adults. JAMA 2001;285:2888–2890.[Abstract/Free Full Text]




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