Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.
Hum Mutat
; 27(1): 103-9, 2006 Jan.
Article
en En
| MEDLINE
| ID: mdl-16278826
ABSTRACT
Chronic obstructive pulmonary disease (COPD) is a major cause of mortality and morbidity worldwide. While cigarette smoking is a major cause of COPD, only 15% of smokers develop the disease, indicating major genetic influences. The most widely recognized candidate gene in COPD is SERPINA1, although it has been suggested that SERPINA3 may also play a role. To detect cryptic genetic variants that might contribute to disease, we identified 15 SNP haplotype tags from high-density SNP maps of the two genes and evaluated these SNPs in the largest case-control genetic study of COPD conducted so far. For SERPINA1, six newly identified haplotypes with a common backbone of five SNPs were found to increase the risk of disease by six- to 50-fold, the highest risk of COPD reported to date. In contrast, no haplotype associations for SERPINA3 were identified.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Haplotipos
/
Alfa 1-Antitripsina
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Predisposición Genética a la Enfermedad
/
Enfermedad Pulmonar Obstructiva Crónica
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Aged
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Reino Unido