Reply: interactions and clarifying group-specific estimates by using stratification.
Reply: interactions and clarifying group-specific estimates by using stratification.
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答复:通过使用分层进行交互并澄清特定群体的估计。
DOI:
10.1164/rccm.201406-1085le
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发表时间:
2014
影响因子:
24.7
通讯作者:
McElvaney,NoelG
中科院分区:
文献类型:
--
作者:
Molloy,Kevin;Carroll,TomasP;Hersh,CraigP;Lasky-Su,JessicaA;McElvaney,NoelG
AATD is not a rare condition but a relatively common condition that is diagnosed rarely. The fact that AATD is still underdiagnosed is worrisome, given the high prevalence of this condition in Western countries. Reports on the prevalence of PI* MZ heterozygosity are more comprehensively described elsewhere by several groups, including our own (2–4). We see no evidence to support the observation by Perret and Lodge of a comparable low clinical expression of AATD that more frequently resembles an emphysematous phenotype. Comparison of the clinical expression of AATD with the prevalence of PI* MZ heterozygosity is misleading. The underdiagnosis of AATD continues to be a major problem in COPD, and this includes PI* MZ cases. For example, we have observed that the prevalence of PI* MZ heterozygosity in COPD is approximately 10% in the Irish National Targeted Detection Program (unpublished), but this may in fact be higher, as not all individuals with COPD are tested for AATD. However, we realize that the frequency of the Z allele in Ireland is relatively high compared with other Western countries. The results of this study increase our level of confidence in reassuring never-smoking PiMZ individuals that they have no apparent increased risk of disease. Our statistical power was limited to say definitively that never-smoking PiMZ heterozygotes are completely protected. Critically, abstinence from cigarette smoking is fundamental in the prevention and treatment of disease in all PiMZ individuals, as the results of this study have shown that it is the significant interaction between the gene (PiMZ) and the environment (cigarette smoke) that contributes to the increased risk of lung disease in this patient population compared with PiMM individuals (1).■