Common null variant, Arg192Stop, in a G-protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity

  1. Satoru Koyano1,4,*,
  2. Mitsuru Emi1,4,
  3. Takafumi Saito1,
  4. Naohiko Makino1,
  5. Sayumi Toriyama4,
  6. Miho Ishii4,
  7. Isao Kubota2,
  8. Takeo Kato3,
  9. Sumio Kawata1,*

Article first published online: 5 MAR 2008

DOI: 10.1111/j.1872-034X.2008.00327.x

Issue

Hepatology Research

Hepatology Research

Volume 38, Issue 7, pages 696–703, July 2008

Additional Information

How to Cite

Koyano, S., Emi, M., Saito, T., Makino, N., Toriyama, S., Ishii, M., Kubota, I., Kato, T. and Kawata, S. (2008), Common null variant, Arg192Stop, in a G-protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity. Hepatology Research, 38: 696–703. doi: 10.1111/j.1872-034X.2008.00327.x

Author Information

  1. 1

    Departments of Gastroenterology,

  2. 2

    Cardiology, Pulmonology and Nephrology, and

  3. 3

    Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University of School of Medicine, Yamagata, and

  4. 4

    HuBit genomix Research Institute, Tokyo, Japan

*Dr Satoru Koyano, HuBit genomix Research Institute, Joware Hanzomon 2F, 2-19 Hayabusa-cho, Chiyoda-ku, Tokyo 102-0092, Japan. Email: skoyano@mail.goo.ne.jp
Dr Sumio Kawata, Department of Gastroenterology, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan. Email: kawata@med.id.yamagata-u.ac.jp

Publication History

  1. Issue published online: 5 MAR 2008
  2. Article first published online: 5 MAR 2008
  3. Received 10 September 2007; revision 27 November 2007; accepted 22 December 2007.

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (179K)

Keywords:

  • G-protein coupled receptor;
  • non-functioning;
  • null-allele;
  • olfactory receptor;
  • serum cholinesterase;
  • single nucleotide polymorphism

Aim:  Non-functioning single nucleotide polymorphisms (nSNPs) that result in premature termination codons, that is null-alleles of the respective genes, may have phenotypic effects on clinical parameters. We conducted association studies involving several G-protein coupled receptors (GPCRs) that harbor nSNPs, using clinical parameters of liver function in a general population consisting of 2969 Japanese adults.

Methods:  SNP typings were performed with TaqMan and Invader assays. Quantitative associations between genotypes and clinical parameters were analyzed by analysis of variance. Linkage disequilibrium (LD) was tested by Haploview Version 3.3. Haplotype-based association was performed using the haplo.stats program.

Results:  A significant correlation (P = 0.0057) was identified between serum cholinesterase activity (CHE) and an nSNP (Arg192Stop) in the olfactory receptor (OR) 1B1 gene, a member of the GPCR gene family. This nSNP was associated with decreased serum CHE (P = 0.0013). LD analysis based on eight selected SNPs at the locus revealed three LD blocks. The Arg192Stop nSNP was located on the second LD block, which covered one-third of the 3′-portion of the gene.

Conclusion:  These results suggested that the null-allele of OR1B1 might affect metabolism of serum cholinesterase in carriers of this nSNP.

View Full Article (HTML) Get PDF (179K)