Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample

Journal of Community Genetics

Volumn 3, Issue 4, 2012, Pages 319-322

  Sirois, Francine ^a   Kaefer, Nadine ^a   Currie, Krista A ^c   Chrétien, Michel ^a,b   Nkongolo, Kabwe K ^c   Mbikay, Majambu ^a,b  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c LAURENTIAN UNIVERSITY   (Canada)

Author keywords

Aboriginals; Caucasians; Genetic polymorphism; Obesity; Population genetics; Proprotein convertase

Indexed keywords

DNA; PROPROTEIN CONVERTASE 1;

ABORIGINE; AMINO ACID SUBSTITUTION; ARTICLE; CANADA; CAUCASIAN; CONTROLLED STUDY; GENE CLUSTER; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MUTATION RATE; OBESITY; PCSK1 GENE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84869129268     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-012-0081-5     Document Type: Article

References (24)

1. Amos W (2009) Even small SNP clusters are non-randomly distributed: is this evidence of mutational non-independence? Proc R Soc B 277:1443-1449
2. Benzinou M, Creemers JW, Choquet H et al (2008) Common nonsynonymous variants in PCSK1 confer risk of obesity. Nat Genet 40:943-945
3. Currie KA, Michael P, Nkongolo KK (2005) Characterization of the D18S535 STR locus in northern Ontario European and Aboriginal populations for forensic purposes. Hum Biol 77:267-279
4. Didenko VV (2001) DNA probes using fluorescence resonance energy transfer (FRET): designs and applications. Biotechniques 31:1106-1121
5. Dong W, Seidel B, Marcinkiewicz M et al (1997) Cellular localization of the prohormone convertases in the hypothalamic paraventricular and supraoptic nuclei: selective regulation of PC1 in corticotrophinreleasing hormone parvocellular neurons mediated by glucocorticoids. J Neurosci 17:563-575
6. Farooqi IS, Volders K, Stanhope R et al (2007) Hyperphagia and earlyonset obesity due to a novel homozygous missense mutation in prohormone convertase 1β. J Clin Endocrinol Metab 92:3369-3373
7. Gjesing AP, Vestmar MA, Jorgensen T et al (2011) The effect of PCSK1 variants on waist, waist-hip ratio and glucose metabolism is modified by sex and glucose tolerance status. PLoS One 6:e23907
8. Goossens GH, Petersen L, Blaak EE et al (2009) Several obesity-and nutrient-related gene polymorphisms but not FTO and UCP variants modulate postabsorptive resting energy expenditure and fatinduced thermogenesis in obese individuals: the NUGENOB study. Int J Obes (Lond) 33:669-679
9. Heni M, Haupt A, Schafer SA et al (2010) Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion. BMC Med Genet 11:86
10. Jackson RS, Creemers JW, Farooqi IS et al (2003) Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest 112:1550-1560
11. Jackson RS, Creemers JW, Ohagi S et al (1997) Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 16:303-306
12. Kilpelainen TO, Bingham SA, Khaw KT, Wareham NJ, Loos RJ (2009) Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study. Hum Molec Genet 18:3496-3501
13. Liu J, Hanley AJ, Young TK, Harris SB, Zinman B (2006) Characteristics and prevalence of the metabolic syndrome among three ethnic groups in Canada. Int J Obes 30:669-676
14. Lloyd DJ, Bohan S, Gekakis N (2006) Obesity, hyperphagia and increased metabolic efficiency in PC1 mutant mice. Hum Mol Genet 15:1884-1893
15. Mbikay M, Croissandeau G, Sirois F et al (2007) A targeted deletion/insertion in the mouse Pcsk1 locus is associated with homozygous embryo preimplantation lethality, mutant allele preferential transmission and heterozygous female susceptibility to dietary fat. Dev Biol 306:584-598
16. Mbikay M, Sirois F, Nkongolo KK, Basak A, Chretien M (2011) Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1β biosynthesis and activity. Mol Genet Metab 104:682-687
17. Muller L, Lindberg I (1999) The cell biology of the prohormone convertases PC1 and PC2. Prog Nucleic Ac Res Mol Biol 63:69-108
18. Qi Q, Li H, Loos RJ et al (2010) Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population. PLoS One 5:e10590
19. Renstrom F, Payne F, Nordstrom A et al (2009) Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden. Hum Molec Genet 18:1489-1496
20. Rouskas K, Kouvatsi A, Paletas K et al (2011) Common variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 show evidence of association with adult obesity in the Greek population. Obesity. doi:10.1038/oby.2011.177
21. Seidah NG, Chretien M (1999) Proprotein and prohormone convertases: a family of subtilases generating diverse bioactive polypeptides. Brain Res 848:45-62
22. Sirois F, Gbeha E, Sanni A et al (2008) Ethnic differences in the frequency of the cardioprotective C679X PCSK9 mutation in a West African population. Genet Testing 12:377-380
23. Willer CJ, Speliotes EK, Loos RJ et al (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 41:25-34
24. Zhu X, Zhou A, Dey A et al (2002) Disruption of PC1β expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects. Proc Nat Acad Sci U S A 99:10293-10298