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血管紧张素转换酶基因多态性与婴儿呼吸肌功能。

Angiotensin-converting enzyme gene polymorphism and respiratory muscle function in infants.

机构信息

Neonatal Intensive Care Unit, Department of Pediatrics, University of Patras Medical School, Rio, Patras, Greece.

出版信息

Pediatr Pulmonol. 2010 Dec;45(12):1233-9. doi: 10.1002/ppul.21316. Epub 2010 Sep 1.

Abstract

OBJECTIVE

Angiotensin-converting enzyme (ACE) gene contains a polymorphism consisting of either the presence (I) or absence (D) of a 287-bp fragment. Recent studies have suggested that the I-allele may be associated with superior exercise endurance; respiratory muscle function may be similarly influenced. The pressure-time index of inspiratory muscles (PTImus) is a measure of the load-capacity ratio of the inspiratory muscles. The objective of this study was to determine whether infants homozygous for the I-allele have lower PTImus compared to infants homozygous for the D-allele or heterozygous I/D.

PATIENTS AND METHODS

One hundred thirty-two infants were studied. ACE genotyping was performed by polymerase chain reaction amplification, using DNA from peripheral blood. PTImus was calculated as (Pi(mean)/Pi(max)) × (T(i)/T(tot)), where Pi(mean) was the mean inspiratory pressure estimated from airway pressure, generated 100 ms after an occlusion (P(0.1)), Pi(max) was the maximum inspiratory pressure and T(i)/T(tot) was the ratio of the inspiratory time to the total respiratory cycle time. Pi(max) was the largest pressure generated during brief airway occlusions performed at the end of a spontaneous crying effort.

RESULTS

Infants with I/I genotype had significantly lower PTImus than infants with either D/D or I/D genotypes (P = 0.000007). ACE genotype was significantly related (P = 0.005) to PTImus measurements, independent of other factors that may affect respiratory muscle function.

CONCLUSION

These results suggest that an association of ACE genotypes with PTImus measurements may exist in infants.

摘要

目的

血管紧张素转换酶(ACE)基因含有一个多态性,由 287bp 片段的存在(I)或不存在(D)组成。最近的研究表明,I 等位基因可能与优越的运动耐力有关;呼吸肌功能可能也受到类似的影响。吸气肌的压力-时间指数(PTImus)是吸气肌负荷能力比的衡量指标。本研究的目的是确定与 D 等位基因纯合子或杂合子 I/D 的婴儿相比,I 等位基因纯合子的婴儿的 PTimus 是否较低。

患者和方法

研究了 132 名婴儿。通过聚合酶链反应扩增,使用外周血中的 DNA 进行 ACE 基因分型。PTImus 计算为(Pi(mean)/Pi(max)) × (T(i)/T(tot)),其中 Pi(mean)是从气道压力估计的平均吸气压力,在气道阻塞 100ms 后产生(P(0.1)),Pi(max)是最大吸气压力,T(i)/T(tot)是吸气时间与总呼吸周期时间的比值。Pi(max)是在自发哭泣努力结束时进行的短暂气道阻塞期间产生的最大压力。

结果

I/I 基因型的婴儿的 PTimus 明显低于 D/D 或 I/D 基因型的婴儿(P=0.000007)。ACE 基因型与 PTimus 测量值显著相关(P=0.005),独立于可能影响呼吸肌功能的其他因素。

结论

这些结果表明,ACE 基因型与 PTimus 测量值之间可能存在关联。

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