PMID: 25414277

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical chemistry
M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M WaluĊ›-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries

8 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12