马卡罗尼西亚阿尔法-1抗素缺乏症的遗传流行病学
Ignacio Blanco1, Marc Miravitlles2
1Hospital Valle del Nalón, Pneumology Service (retired), Langreo, Spain.
Respiration; international review of thoracic diseases
|April 8, 2024
概括
阿尔法-1抗素缺乏症 (AATD) 的患病率在马卡罗尼西亚各地有所不同,马德拉在全球范围内显示PI*S和PI*Z等位基因频率最高. 查揭示了许多缺陷等位基因,强调了需要系统的AATD调查的必要性.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 流行病学 流行病学
- 公共卫生 公共卫生
背景情况:
- 阿尔法-1抗素缺乏症 (AATD) 是一种具有重大健康影响的遗传疾病.
- 马卡罗尼西亚地区AATD的患病率在很大程度上仍然没有特征.
- 准确的流行数据对于了解疾病负担和实施有针对性的干预措施至关重要.
研究的目的:
- 更新马卡罗尼西亚的α-1抗素缺乏症 (AATD) 的流行情况.
- 在不同的群岛中分析PI*S和PI*Z的等位基因频率.
- 为了确定AATD人口查的诊断产量.
主要方法:
- 通过使用MEDLINE,Embase和谷歌学者进行了全面的文献搜索,直到2023年12月.
- 包括的研究是那些发表在同行评审期刊上的研究,重点关注一般人群中的AATD流行率和查计划.
- 分析了对等位基频率 (PI*S和PI*Z) 和查结果的精选研究数据.
主要成果:
- 分析了马德拉,拉帕尔马 (加拿大群岛) 和佛得角的流行数据.
- PI*S和PI*Z等位基因的频率呈现出从南向北的渐变 (绿角 < 拉帕尔马 < 马德拉).
- 查发现了高比例的有缺陷的AATD等位基因,包括罕见和独特的变异.
结论:
- 马德拉的AATD等位基因频率与全球报告的最高频率相当.
- 加那利群岛的频率与西班牙半岛的频率一致,与佛得角的较低频率形成鲜明对比.
- 建议在有症状的个体及其家人中系统地检查AATD,以减少不足诊断.
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