Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans.
Clin Genet
; 79(6): 575-81, 2011 Jun.
Article
en En
| MEDLINE
| ID: mdl-21480869
ABSTRACT
The scavenger receptor class B, member 1 (SR-BI), is a key cellular receptor for high-density lipoprotein (HDL) in mice, but its relevance to human physiology has not been well established. Recently a family was reported with a mutation in the gene encoding SR-BI and high HDL cholesterol (HDL-C). Here we report two additional individuals with extremely high HDL-C (greater than the 90th percentile for age and gender) with rare mutations in the gene encoding SR-BI. These mutations segregate with high HDL-C in family members of each proband and are associated with a 37% increase in plasma HDL-C in heterozygous individuals carrying them. Both mutations occur at highly conserved positions in the large extracellular loop region of SR-BI and are predicted to impair the function of the SR-BI protein. Our findings, combined with the prior report of a single mutation in the gene encoding SR-BI, further validate that mutations in SR-BI are a rare but recurring cause of elevated HDL-C in humans.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Mutación Missense
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Receptores Depuradores de Clase B
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HDL-Colesterol
Tipo de estudio:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adolescent
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Adult
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Aged
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Animals
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Clin Genet
Año:
2011
Tipo del documento:
Article
País de afiliación:
Canadá