PMID: 23505323

Weissglas-Volkov D, Aguilar-Salinas CA, Nikkola E, Deere KA, Cruz-Bautista I, Arellano-Campos O, Munoz-Hernandez LL, Gomez-Munguia L, Ordonez-Sanchez ML, Reddy PM, Lusis AJ, Matikainen N, Taskinen MR, Riba L, Cantor RM, Sinsheimer JS, Tusie-Luna T, Pajukanta P
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
J Med Genet. 2013 May;50(5):298-308. doi: 10.1136/jmedgenet-2012-101461. Epub 2013 Mar 15., [PubMed]
Sentences
No. Mutations Sentence Comment
160 ABCA1 p.Arg230Cys
X
ABCA1 p.Arg230Cys 23505323:160:64
status: NEW
view ABCA1 p.Arg230Cys details
 The functionally important missense variant rs9282541 in ABCA1 (R230C) indeed seems to be exclusive to Amerindian-derived populations such as Mexicans.35 However, the frequencies of the independent SNPs rs2036402 near TIMD4 and rs4149310 near ABCA1 are substantially lower in the HapMapIII CEU panel than in Mexicans. These interpopulation differences in allele frequency can lead to association signals at different SNPs in different populations which do not necessarily mean that the causal variant is also population specific. Login to comment