PMID: 23555291

Wu Y, Waite LL, Jackson AU, Sheu WH, Buyske S, Absher D, Arnett DK, Boerwinkle E, Bonnycastle LL, Carty CL, Cheng I, Cochran B, Croteau-Chonka DC, Dumitrescu L, Eaton CB, Franceschini N, Guo X, Henderson BE, Hindorff LA, Kim E, Kinnunen L, Komulainen P, Lee WJ, Le Marchand L, Lin Y, Lindstrom J, Lingaas-Holmen O, Mitchell SL, Narisu N, Robinson JG, Schumacher F, Stancakova A, Sundvall J, Sung YJ, Swift AJ, Wang WC, Wilkens L, Wilsgaard T, Young AM, Adair LS, Ballantyne CM, Buzkova P, Chakravarti A, Collins
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.
PLoS Genet. 2013 Mar;9(3):e1003379. doi: 10.1371/journal.pgen.1003379. Epub 2013 Mar 21., [PubMed]
Sentences
No. Mutations Sentence Comment
234 ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 23555291:234:1737
status: NEW
view ABCA1 p.Val825Ile details
ABCA1 p.Arg230Cys
X
ABCA1 p.Arg230Cys 23555291:234:1679
status: NEW
view ABCA1 p.Arg230Cys details
 Reported functional variants [ref] Reported functional variants on Metabochip Variants with strongest association at a signal Signal Ethnic group* MAF Notes PCSK9: rs28362286 (C679X) [22] Yes rs28362286 1st AA 0.009 Same variant PCSK9: rs28362263 (A443T) [29] Yes rs28362263 2nd AA 0.097 Same variant PCSK9: rs28362261 (N425S) [30] Yes rs28362261 3rd AA 0.017 Same variant PCSK9: rs67608943 (Y142X) [22] Yes rs67608943 4th AA 0.004 Same variant PCSK9: rs72646508 (L253F) [22] Yes rs72646508 5th AA 0.003 Same variant APOE: rs7412 (R176C) [23] Yes rs7412 1st AA, ASN, EUR 0.056-0.110 Same variant APOE: rs769455 (R163C) [31] Yes rs769455 2nd AA 0.020 Same variant APOA5: rs3135506 (S19W) [26] Yes rs3135506 1st AA 0.058 Same variant APOA5: rs651821(-3A.G) [32] Yes rs651821 1st ASN 0.275 Same variant APOA5: rs2075291 (G185C) [25] Yes rs2075291 2nd ASN 0.064 Same variant GCKR: rs1260326 (L446P) [28] Yes rs1260326 1st AA, EUR 0.149-0.350 Same variant SORT1: rs12740374 [18] Yes rs12740374 1st AA 0.247 Same variant CETP: rs17231520 [33] Yes rs17231520 3rd AA 0.069 Same variant LIPC: rs2070895 [34] Proxy: rs1077834 (LD r2 = 1.00) rs1077834 1st, 2nd AA, EUR 0.481 LD r2 = 1.00 APOB: rs7575840 [35] Yes rs934198 1st EUR 0.298 LD r2 = 0.98 LPL: rs328 (S447X) [36] Yes rs1803924 1st ASN 0.095 LD r2 = 0.96 LDLR: rs688 (N591N) [37] Yes rs73015011, rs112898275 1st AA, EUR ---- LD r2 ,0.01 LPL: rs1801177 (D9N) [38] Yes rs75551077, rs15285 1st AA, EUR ---- LD r2 ,0.02 HMGCR: rs3761740 (-911C.A) [39] Proxy: rs17238330 (LD r2 = 1.00) rs12916 1st EUR ---- LD r2 ,0.20 LDLR: -139C.G [40] No ---- ---- ---- ---- ---- LPL: rs268 (N291S) [41] No ---- ---- ---- ---- ---- ABCA1: rs9282541 (R230C) [42] No ---- ---- ---- ---- ---- ABCA1: rs2066715 (V825I) [43] No ---- ---- ---- ---- ---- LCAT: rs28940887(R159W) [44] No ---- ---- ---- ---- ---- PLTP: R235W [45] No ---- ---- ---- ---- ---- LIPG: rs77960347 (A396S) [46] No ---- ---- ---- ---- ---- LIPG: rs34474737 [47] No ---- ---- ---- ---- ---- *AA, African American; EUR, European; ASN, East Asian. Login to comment