ABCMdb

PMID: 15135251

Bertolini S, Pisciotta L, Di Scala L, Langheim S, Bellocchio A, Masturzo P, Cantafora A, Martini S, Averna M, Pes G, Stefanutti C, Calandra S
Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.
Atherosclerosis. 2004 May;174(1):57-65., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCA1 p.Arg219Lys ABCA1 p.Arg219Lys We investigated Apo E (ε2, ε3, ε4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations. Login to comment 25 ABCA1 p.Arg219Lys Finally, we investigated the R219K variant of the ABCA1 gene, since the K allele appeared to be protective against CAD in both FH and non-FH subjects [22,23]. Login to comment 42 ABCA1 p.Arg219Lys The polymorphisms Apo E, MTP -493G/T, LPL N291S, Apo B -516C/T, HL -514C/T, FABP-2 A54T, Apo A-V -1131T/C, ABCA1 R219K and LPL S447X were studied using methods previously described [2,6,11,13,14,16,19,23,25]. Login to comment 116 ABCA1 p.Arg219Lys The other polymorphisms we investigated (N291S and D9N of LPL gene and R219K of ABCA1 gene) were found to have no significant effect on plasma lipids (data not shown). Login to comment 119 ABCA1 p.Arg219Lys The other polymorphisms we investigated (N291S and D9N of LPL gene and R219K of ABCA1 gene) were found to have no significant effect on plasma lipids (data not shown). Login to comment 170 ABCA1 p.Arg219Lys Several recent studies have investigated the role of the R219K polymorphism of ABCA1 transporter on plasma lipoprotein profile or CAD [40]. Login to comment 173 ABCA1 p.Arg219Lys Several recent studies have investigated the role of the R219K polymorphism of ABCA1 transporter on plasma lipoprotein profile or CAD [40]. Login to comment