Déficit de alfa-1-antitripsina. Situación en España y desarrollo de un programa de detección de casos

Roza, Cristian de la; Lara, Beatríz; Vilà, Sara; Miravitlles, Marc

doi:10.1157/13089541

Cited by 21 publications

(4 citation statements)

References 69 publications

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“…However, it has been estimated that only 10%-20% of smokers develop this disease, and this could be due to genetic and/or environmental factors that modulate the toxic effect of cigarette smoke. 20 The PLATINO study showed that COPD prevalence in Latin America ranges from 5.6% in Mexican women to 27.2% in Uruguayan men, with the lowest prevalence of the disease reported in Mexico. One hypothesis attributes this difference to the altitude above sea level.…”

Section: Discussionmentioning

confidence: 99%

“…In this regard, AAT deficiency is the genetic factor most clearly associated with COPD and increases the risk of developing pulmonary emphysema for smokers, especially at an early age. 20 The guidelines of the World Health Organization (WHO) and the ATS/ERS scientific societies have explicitly indicated that quantification of serum AAT levels should be performed for all COPD patients as part of the standard diagnostic procedure. It is also important to indicate when and how other laboratory diagnostic tests, such as phenotype or genotype assessments, should be performed.…”

Section: Discussionmentioning

confidence: 99%

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Prevalence of Alpha-1 Antitrypsin High-risk Variants in Mexican Mestizo Population and Their Association With Lung Function Values

Pérez-Rubio

Jiménez-Valverde

Ramírez‐Venegas

et al. 2015

Archivos de Bronconeumología (English Edition)

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Prevalence of Alpha-1 Antitrypsin High-risk Variants in Mexican Mestizo Population and Their Association With Lung Function Values

Pérez-Rubio

Jiménez-Valverde

Ramírez‐Venegas

et al. 2015

Archivos de Bronconeumología (English Edition)

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“…Genetically and populationally, AAT1 deficiency is an autosomal recessive disorder in which the most commonly deficient allele, Pi*Z, is more prevalent in northern and western European countries, being rarer in southern European, Asian, and Asian populations. However, Pi*S allelic variants are more prevalent in southern European countries [32,33]. Data provided by several studies indicate that, in Spain, frequencies of Pi*S and Pi*Z would be 104 and 17 per thousand, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…Of the total deficient phenotypes, 80% would be Pi*MS, 13% would be Pi*MZ, 4.7% would be Pi*SS, 1.6% would be Pi*SZ, and 0.1% would be Pi*ZZ. According to penetrance approximations for the Pi*ZZ phenotype, it is estimated that 2526 adults would have COPD and 4030 subjects would have chronic liver disease [3,32].…”

Section: Discussionmentioning

confidence: 99%

Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain

Cuenca,

Botella,

Moya-Quiles

et al. 2023

Diagnostics

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Alpha-1 antitrypsin (AAT1) deficiency (AAT1D) is an inherited disease with an increased risk of chronic obstructive pulmonary disease (COPD), liver disease, and skin and blood vessel problems. AAT1D is caused by mutations in the SERPINE1 gene (Serine Protease Inhibitor, group A, member 1). Numerous variants of this gene, the Pi system, have been identified. The most frequent allelic variants are Pi*M, Pi*S, and Pi*Z. The development of COPD requires both a genetic predisposition and the contribution of an environmental factor, smoking being the most important. Studies on this deficiency worldwide are very scarce, and it is currently considered a rare disease because it is underdiagnosed. The aim of this study was to analyze the genotypic frequencies of mutations associated with AAT1 deficiency in unrelated bone marrow donors from the donor registry of the Region of Murcia in southeastern Spain due to the high risk of presenting with different pathologies and underdiagnosis in the population. A total of 112 DNA-healthy voluntary unrelated bone marrow donors from different parts of the Region of Murcia were analyzed retrospectively. AAT1 deficiency patient testing involved an automated biochemical screening routine. The three main variants, Pi*M, Pi*Z, and Pi*S, were analyzed in the SERPINE1 gene. Our results showed a frequency of 3.12% of the Pi*Z (K342) mutation in over 224 alleles tested in the healthy population. The frequency of Pi*S (V264) was 11.1%. The frequency of the haplotype with the most dangerous mutation, EK342 EE264, was 4.46%, and the frequency of EK342 EV264 was 1.78% in the healthy population. Frequencies of other EE342 EV264-mutated haplotypes accounted for 18.7%. As for the EE342 VV264 haplotype, 0.89% of the total healthy population presented heterozygous for the EV264 mutation and one individual presented homozygous for the VV264 mutation. In conclusion, the frequencies of Pi mutations in the healthy population of the Region of Murcia were not remarkably different from the few studies reported in Spain. The genotype and haplotype frequencies followed the usual pattern. Health authorities should be aware of this high prevalence of the Pi*S allelic variant and pathological genotypes such as Pi*MZ and Pi*SZ in the healthy population if they consider screening the smoking population.

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Respiratory Disease Registries in Spain: Fundamentals and Organization

Lara

Morales

Blanco

et al. 2011

Archivos de Bronconeumología (English Edition)

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Déficit de alfa-1-antitripsina. Situación en España y desarrollo de un programa de detección de casos

Cited by 21 publications

References 69 publications

Prevalence of Alpha-1 Antitrypsin High-risk Variants in Mexican Mestizo Population and Their Association With Lung Function Values

Prevalence of Alpha-1 Antitrypsin High-risk Variants in Mexican Mestizo Population and Their Association With Lung Function Values

Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain

Respiratory Disease Registries in Spain: Fundamentals and Organization

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