Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample.
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ABSTRACT:
SUBMITTER: Sirois F
PROVIDER: S-EPMC3461222 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Publications
Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample.
Sirois Francine F Kaefer Nadine N Currie Krista A KA Chrétien Michel M Nkongolo Kabwe K KK Mbikay Majambu M
Journal of community genetics 20120204 4
The PCSK1 (proprotein convertase subtilisin/kexin type 1) locus encodes proprotein convertase 1/3, an endoprotease that converts prohormones and proneuropeptides to their active forms. Spontaneous loss-of-function mutations in the coding sequence of its gene have been linked to obesity in humans. Minor alleles of two common non-synonymous single-nucleotide polymorphisms (SNPs), rs6232 (T > C, N221D) and rs6235 (C > G, S690T), have been associated with increased risk of obesity in European popula ...[more]
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