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[Genetic aspects of asthma].
Rev Invest Clin. 2000 Jul-Aug; 52(4):441-50.RI

Abstract

Asthma is a complex disease associated with bronchial hyperreactivity and atopy, making asthma a disease with a phenotype that has been clinically difficult to define. Despite intense research, prevalence of asthma remain relatively high. The key reason for the high prevalence and morbility is that the fundamental mechanisms predisposing individuals to the development of asthma are not understood. Familial aggregation observed in this pathology has prompted for the search of an involved genetic component. This task is difficult due to the complex nature of asthma. A universally accepted definition for this disease is not available, clinical expression can be modulated by environmental factors, and inheritance does not follow a clear Mendelian pattern. Establishment of more precise clinical and laboratory criteria has improved the design and interpretation of genetic studies. Twin analysis and segregation studies have demonstrated an important genetic component with a probably multifactorial pattern of inheritance. "Sib pair" studies and familial segregation analyses have shown linkage between some chromosomal regions and asthma, including chromosome 5, 6, 7, 11 and 14. The search for major genes in these chromosomal segments has been focused on loci involved in the allergic process. Among these, the loci for IL-9 and IL-13 in chromosome 5 seem to play an important role in the pathogenesis of asthma. Understanding the fundamental gene-environmental interactions in the development of asthma should lead to earlier identification of susceptible individuals and more effective approaches for disease prevention.

Authors+Show Affiliations

Rojas-Martínez A
Departamento de Bioquímica, Facultad de Medicina de la UANL. hbarrera@uanl.mx
Santillán AA
No affiliation info available
Delgado-Enciso I
No affiliation info available
Barrera-Saldaña HA
No affiliation info available

MeSH

AdultAsthmaChildChromosomes, Human, Pair 11Chromosomes, Human, Pair 14Chromosomes, Human, Pair 5Chromosomes, Human, Pair 6Chromosomes, Human, Pair 7HumansPedigreeTwins

Pub Type(s)

English Abstract
Journal Article
Review

Language

spa

PubMed ID

11061107

Citation

Rojas-Martínez, A, et al. "[Genetic Aspects of Asthma]." Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, vol. 52, no. 4, 2000, pp. 441-50.
Rojas-Martínez A, Santillán AA, Delgado-Enciso I, et al. [Genetic aspects of asthma]. Rev Invest Clin. 2000;52(4):441-50.
Rojas-Martínez, A., Santillán, A. A., Delgado-Enciso, I., & Barrera-Saldaña, H. A. (2000). [Genetic aspects of asthma]. Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 52(4), 441-50.
Rojas-Martínez A, et al. [Genetic Aspects of Asthma]. Rev Invest Clin. 2000 Jul-Aug;52(4):441-50. PubMed PMID: 11061107.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Genetic aspects of asthma]. AU - Rojas-Martínez,A, AU - Santillán,A A, AU - Delgado-Enciso,I, AU - Barrera-Saldaña,H A, PY - 2000/11/4/pubmed PY - 2001/2/28/medline PY - 2000/11/4/entrez SP - 441 EP - 50 JF - Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion JO - Rev Invest Clin VL - 52 IS - 4 N2 - Asthma is a complex disease associated with bronchial hyperreactivity and atopy, making asthma a disease with a phenotype that has been clinically difficult to define. Despite intense research, prevalence of asthma remain relatively high. The key reason for the high prevalence and morbility is that the fundamental mechanisms predisposing individuals to the development of asthma are not understood. Familial aggregation observed in this pathology has prompted for the search of an involved genetic component. This task is difficult due to the complex nature of asthma. A universally accepted definition for this disease is not available, clinical expression can be modulated by environmental factors, and inheritance does not follow a clear Mendelian pattern. Establishment of more precise clinical and laboratory criteria has improved the design and interpretation of genetic studies. Twin analysis and segregation studies have demonstrated an important genetic component with a probably multifactorial pattern of inheritance. "Sib pair" studies and familial segregation analyses have shown linkage between some chromosomal regions and asthma, including chromosome 5, 6, 7, 11 and 14. The search for major genes in these chromosomal segments has been focused on loci involved in the allergic process. Among these, the loci for IL-9 and IL-13 in chromosome 5 seem to play an important role in the pathogenesis of asthma. Understanding the fundamental gene-environmental interactions in the development of asthma should lead to earlier identification of susceptible individuals and more effective approaches for disease prevention. SN - 0034-8376 UR - https://www.unboundmedicine.com/medline/citation/11061107/[Genetic_aspects_of_asthma]_ DB - PRIME DP - Unbound Medicine ER -