PMID: 24376512

Nakamura A, Niimura H, Kuwabara K, Takezaki T, Morita E, Wakai K, Hamajima N, Nishida Y, Turin TC, Suzuki S, Ohnaka K, Uemura H, Ozaki E, Hosono S, Mikami H, Kubo M, Tanaka H
Gene-gene combination effect and interactions among ABCA1, APOA1, SR-B1, and CETP polymorphisms for serum high-density lipoprotein-cholesterol in the Japanese population.
PLoS One. 2013 Dec 20;8(12):e82046. doi: 10.1371/journal.pone.0082046. eCollection 2013., [PubMed]
Sentences
No. Mutations Sentence Comment
52 ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 24376512:52:258
status: NEW
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ABCA1 p.Val771Met
X
ABCA1 p.Val771Met 24376512:52:215
status: NEW
view ABCA1 p.Val771Met details
 doi:10.1371/journal.pone.0082046.g001 polymorphisms (SNPs) that have been reported to be associated with HDL-C levels in previous studies [11-17]: ABCA1-565C.T (rs2422493), R1587K (rs2230808), -273G.C (rs1800976), V771M (rs2066718), -17C.G (rs2740483), and V825I (rs2066715); APOA1 A61T (rs12718465); LCAT (rs4986970); CETP Taq1B (rs708272), G/T (rs3764261), I405V (rs5882), and -629C.A (rs1800775); SR-B1 A.G (rs3782287), A350A (rs5888), and V135I (rs5891). Login to comment 146 ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 24376512:146:184
status: NEW
view ABCA1 p.Val825Ile details
ABCA1 p.Val771Met
X
ABCA1 p.Val771Met 24376512:146:131
status: NEW
view ABCA1 p.Val771Met details
 Gene rs Number Alias Allele MAF ABCA1 rs2422493 2565C.T C.T 0.408 rs2230808 R1587K G.A 0.399 rs1800976 2273G.C G.C 0.409 rs2066718 V771M G.A 0.075 rs2740483 217C.G C.G 0.295 rs2066715 V825I G.A 0.361 APOA1 rs12718465 A61T C.T 0.068 CETP rs708272 Taq1B C.T 0.398 rs3764261 G/T G.T 0.272 rs5882 Ile405Val A.G 0.495 rs1800775 2629C.A A.C 0.445 SR-B1 rs3782287 A.G G.A 0.244 rs5888 A350A C.T 0.220 MAF, minor allele frequency. Login to comment