PMID: 17135600

Porchay I, Pean F, Bellili N, Royer B, Cogneau J, Chesnier MC, Caradec A, Tichet J, Balkau B, Marre M, Fumeron F
ABCA1 single nucleotide polymorphisms on high-density lipoprotein-cholesterol and overweight: the D.E.S.I.R. study.
Obesity (Silver Spring). 2006 Nov;14(11):1874-9., [PubMed]
Sentences
No. Mutations Sentence Comment
6 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17135600:6:96
status: NEW
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 The aim of this study was to assess the effect of three polymorphisms, C69T, G378C, and G1051A (R219K), on HDL-C levels and their interaction with BMI in more than 5000 French whites from the D.E.S.I.R. (Data from an Epidemiological Study on the Insulin Resistance syndrome) cohort study. Login to comment 27 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17135600:27:214
status: NEW
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 We analyzed two SNPs with a potential regulating role located in 5Ј-untranslated regions, C69T (rs1800977) and G378C (rs1800978) (5), and one SNP G1051A (rs2230806) (6) leading to an amino acid substitution, R219K, in a large cohort from the D.E.S.I.R. (Data from an Epidemiological Study on the Insulin Resistance syndrome) Study (18). Login to comment 74 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17135600:74:44
status: NEW
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 The G1051A SNP controls the substitution of arginine 219 by a lysine in the first extracellular domain of ABCA1. Login to comment