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

Hepatology Research

Volumn 38, Issue 7, 2008, Pages 696-703

  Koyano, Satoru ^a   Emi, Mitsuru ^a   Saito, Takafumi ^a   Makino, Naohiko ^a   Toriyama, Sayumi ^a   Ishii, Miho ^a   Kubota, Isao ^a   Kato, Takeo ^b   Kawata, Sumio ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b HuBit Genomix Research Institute   (Japan)

Author keywords

G protein coupled receptor; Non functioning; Null allele; Olfactory receptor; Serum cholinesterase; Single nucleotide polymorphism

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ARGININE; ASPARTATE AMINOTRANSFERASE; CHOLINESTERASE; G PROTEIN COUPLED RECEPTOR; GAMMA GLUTAMYLTRANSFERASE; OLFACTORY RECEPTOR 1B1;

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; BODY MASS; CHOLINESTERASE BLOOD LEVEL; CORRELATION ANALYSIS; ENZYME ACTIVITY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN EXPERIMENT; LIVER FUNCTION; MALE; NULL ALLELE; PRIORITY JOURNAL; QUANTITATIVE GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

EID: 44649136170     PISSN: 13866346     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1872-034X.2008.00327.x     Document Type: Article

References (33)

1. McVean G, Spencer CC, Chaix R. Perspectives on human genetic variation from the HapMap Project. PLoS Genet 2005; 1: E54.
2. International HapMap Consortium. A haplotype map of the human genome. Nature 2005; 437: 1299-320.
3. Hemminki K, Lorenzo Bermejo J, Forsti A. The balance between heritable and environmental aetiology of human disease. Nat Rev Genet 2007; 7: 958-65.
4. Buck L, Axel R. A novel multigene family may encode odorant receptors: A molecular basis for odor recognition. Cell 1991; 5: 175-87.
5. Mombaerts P. Seven transmembrane proteins as odorant and chemosensory receptors. Science 1999; 286: 707-11.
6. Malnic B, Godfrey PA, Buck LB. The human olfactory receptor gene family. Proc Natl Acad Sci USA 2004; 101: 2584-9.
7. Feldmesser E, Olender T, Khen M, Yanai I, Ophir R, Lancet D. Widespread ectopic expression of olfactory receptor genes. BMC Genomics 2006; 7: 121.
8. Nilssen LS, Odegard J, Thoresen GH, Molven A, Sandnes D, Christoffersen T. G protein-coupled receptor agonist-stimulated expression of ATF3/ LRF-1 and c-myc and comitogenic effects in hepatocytes do not require EGF receptor transactivation. J Cell Physiol 2004; 201: 349-58.
9. Dent P, Fang Y, Gupta S, Studer E etal. Conjugated bile acids promote ERK1/2 and AKT activation via a pertussis toxin-sensitive mechanism in murine and human hepatocytes. Hepatology 2005; 42: 1291-9.
10. Konta T, Hao Z, Abiko H etal. Prevalence and risk factor analysis of microalbuminuria in Japanese general population: The Takahata study. Kidney Int 2006; 70: 751-6.
11. Kotani K, Maekawa M, Kanno T. Re-estimation of aspartate aminotransferase (AST)/alanine aminotransferase (ALT) ratio based on JSCC consensus method -changes of criteria for a differential diagnosis of hepatic disorders following the alteration from Karmen method to JSCC method. Nippon Shokakibyo Gakkai Zasshi 1991; 91: 154-61.
12. Mizuta W, Yamamichi H, Fukuda K, Shoji H. Improved colorimetric analysis of albumin using BCG. Rinsho Byori 1971; 19 (Suppl): 337.
13. Lie RF, Schmitz JM, Pierre KJ, Gochman N. Cholesterol oxidase-based determination, by continuous-flow analysis, of total and free cholesterol in serum. Clin Chem 1976; 22: 1627-30.
14. Okabe H, Sagesaka K, Nakajima N, Noma A. New enzymatic assay of cholinesterase activity. Clin Chim Acta 1977; 80: 87-94.
15. Ogata N. Requirement of standardizing anti-HBs assay methods in Japan for HBV infection-preventing strategy -discrepancy of anti-HBs measurements among three different kits widely used in Japan. Rinsho Byori 2006; 54: 960-5.
16. Hennig H, Schlenke P, Kirchner H, Bauer I, Schulte-Kellinghaus B, Bludau H. Evaluation of newly developed microparticle enzyme immunoassays for the detection of HCV antibodies. J Virol Methods 2000; 84: 181-90.
17. Livak KJ. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet Anal 1999; 14: 143-9.
18. Lyamichev V, Mast AL, Hall JG etal. Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes. Nat Biotechnol 1999; 17: 292-6.
19. Mein CA, Barratt BJ, Dunn MG etal. Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation. Genome Res 2000; 10: 330-43.
20. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-5.
21. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002; 70: 425-34.
22. Seltsam A, Hallensleben M, Kollmann A, Blasczyk R. The nature of diversity and diversification at the ABO locus. Blood 2003; 102: 3035-42.
23. Perroy J, Pontier S, Charest PG, Aubry M, Bouvier M. Real-time monitoring of ubiquitination in living cells by BRET. Nat Methods 2004; 1: 203-8.
24. Harrison MF, Brown LM. The effect of starvation on the pseudo-cholinesterase activity of the liver and serum of rats. Biochem J 1951; 48: 151-4.
25. Brown SS, Kalow W, Pilz W, Whittaker M, Woronick CL. The plasma cholinesterases: A new perspective. Adv Clin Chem 1981; 22: 1-123.
26. Hada T, Muratani K, Ohue T et al. A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis. Intern Med 1992; 31: 357-62.
27. McQueen MJ. Clinical and analytical considerations in the utilization of cholinesterase measurements. Clin Chim Acta 1955; 237: 91-105.
28. Liu W, Cheng J, Iwasaki A, Imanishi H, Hada T. Novel mutation and multiple mutations found in the human butyrylcholinesterase gene. Clin Chim Acta 2002; 326: 193-9.
29. Lando G, Mosca A, Bonora R et al. Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: An Italian population study. Pharmacogenetics 2003; 13: 265-70.
30. Iwasaki T, Yoneda M, Nakajima A, Terauchi Y. Serum butyrylcholinesterase is strongly associated with adiposity, the serum lipid profile and insulin resistance. Intern Med 2007; 46: 1633-9.
31. Ando M, Hirosaki S, Tamura K, Taya T. Multiple regression analysis of the cholinesterase activity with certain physiochemical factors. Environ Res 1984; 33: 96-105.
32. Levine MG, Hoyt RE. The relationship between human serum cholinesterase and serum albumin. Science 1950; 111: 286-7.
33. Zou Z, Xin S, Li B. Relationship between cholinesterase, prothrombin activity and albumin and the pathology of the liver. Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi 2001; 15: 349-51.