Skip to main content
SpringerLink
Log in

Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p

  • Original Investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

The ability to taste phenylthiocarbamide (PTC) shows complex inheritance in humans. We obtained a quantitative measure of PTC tasting ability in 267 members of 26 large three-generation families that were part of a set of CEPH families that had been used for genetic mapping. Significant bimodality was found for the distribution of age and gender adjusted scores (P<0.001), with estimated means of 3.16 (SD=1.80) and 9.26 (SD=1.54). Using the extensive genotyping available in these families from the genetic mapping efforts, we performed a genome scan by using 1324 markers with an average spacing of 4 cM. Analyses were first carried out with a recessive genetic model that has traditionally been assumed for the trait, and a threshold score of 8.0 delineating tasters from non-tasters. In this qualitative analysis, the maximum genome-wide lod score was 4.74 at 246 cM on chromosome 7; 17 families showed segregation of the dichotomous PTC phenotype. No other lod scores were significant; the next highest score was on chromosome 10 (lod=1.64 at 85 cM), followed by chromosome 3 (lod=1.29 at 267 cM). Because PTC taste ability exhibited substantial quantitative variation, the quantitative trait was also analyzed by using a variance components approach in SOLAR. The maximum quantitative genome-wide lod score was 8.85 at 246 cM on chromosome 7. Evidence for other possible quantitative loci was found on chromosomes 1 (lod=2.31 at 344 cM) and 16 (lod=2.01 at 14 cM). A subsequent two-locus whole-genome scan conditional on the chromosome 7 quantitative trait locus identified the chromosome 16 locus (two-locus lod=3.33 at 14 cM).

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1.
Fig. 2.
Fig. 3.

Similar content being viewed by others

References

  • Adler E, Hoon MA, Mueller KL, Chandrashekar J, Ryba NJP, Zuker CS (2000) A novel family of mammalian taste receptors. Cell 100:693–702

    CAS  PubMed  Google Scholar 

  • Almasy L, Blangero J (1998) Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62:1198–1211

    CAS  PubMed  Google Scholar 

  • Anonymous (1931) Tasteblindness. Science 73 (Suppl):14

    Google Scholar 

  • Blakeslee AF, Salmon TN (1935) Genetics of sensory thresholds: individual taste reactions for different substances. Proc Nat Acad Sci USA 21:84–90

    Google Scholar 

  • Blangero J, Almasy L (1997) Multipoint oligogenic linkage analysis of quantitative traits. Genet Epidemiol 14:959–964

    Article  CAS  PubMed  Google Scholar 

  • Blangero J, Williams JT, Almasy L (2000) Robust LOD scores for variance component-based linkage analysis. Genet Epidemiol 19:S8–S14

    Article  PubMed  Google Scholar 

  • Chandrashekar J, Mueller KL, Hoon MA, Adler E, Feng L, Guo W, Zuker CS, Ryba NJ (2000) T2Rs function as bitter taste receptors. Cell 100:703–711

    CAS  PubMed  Google Scholar 

  • Chautard-Freire-Maia EA (1974) Linkage relationships between 22 autosomal markers. Ann Hum Genet 38:191–198

    CAS  PubMed  Google Scholar 

  • Cherry JL, Young H, Di Sera LJ, Ferguson FM, Kimball AW, Dunn DM, Gesteland RF, Weiss RB (1994) Enzyme-linked flourescent detection for automated multiplex DNA sequencing. Genomics 20:68–74

    Google Scholar 

  • Conneally PM, Dumont-Driscoll M, Huntzinger RS, Nance WE, Jackson CE (1976) Linkage relations of the loci for Kell and phenylthiocarbamide taste sensitivity. Hum Hered 26:267–271

    CAS  PubMed  Google Scholar 

  • Coon H, Leppert MF, Eckfeldt JH, Oberman A, Myers RH, Peacock JM, Province MA, Hopkins PN, Heiss G (2001) Genome-wide linkage analysis of lipids in the HyperGEN Blood Pressure Study. Arterioscler Thromb Vasc Biol 21:1969–1976

    CAS  PubMed  Google Scholar 

  • Crandall BF, Spence MA (1974) Linkage relations of the phenylthiocarbamide locus (PTC). Hum Hered 24:247–252

    CAS  PubMed  Google Scholar 

  • Dausset J, Cann H, Cohen D, Lathrop M, Lalouel J-M, White R (1990) Program description — Centre d'Etude du Polymorphisme Humain (CEPH) — collaborative mapping of the human genome. Genomics 6:575–577

    CAS  PubMed  Google Scholar 

  • Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach JA (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152–154

    PubMed  Google Scholar 

  • Enoch M-A, Harris CR, Goldman D (2001) Does a reduced sensitivity to bitter taste increase the risk of becoming nicotine addicted? Addict Behav 26:399–404

    Article  CAS  PubMed  Google Scholar 

  • Green BG, Shaffer GS, Gilmore M (1993) Derivation and evaluation of a semantic scale of oral sensation magnitude with apparent ratio properties. Chem Senses 18:683–702

    Google Scholar 

  • Guo S-W, Reed D (2001) The genetics of phenylthiocarbamide perception. Ann Hum Biol 28:111–142

    Article  CAS  PubMed  Google Scholar 

  • Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS (2002) Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations. Am J Hum Genet 70:1172–1182

    Google Scholar 

  • Harris H, Kalmus H (1949) The measurement of taste sensitivity to phenylthiourea (PTC). Ann Eugenics (Lond) 15:24–31

    Google Scholar 

  • Holt HA, Thompson JS, Sanger R, Race RR (1952) Linkage relations of the blood group genes of man. Heredity 6:213–216

    Google Scholar 

  • Kalmus H (1958) Improvements in the classification of the taster genotypes. Ann Hum Genet 22:222–230

    CAS  Google Scholar 

  • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347–1363

    PubMed  Google Scholar 

  • Lander E, Kruglyak (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241–247

    CAS  PubMed  Google Scholar 

  • Lange K, Little RJA, Taylor JMG (1989) Robust statistical modeling using the t distribution. J Am Stat Assoc 84:881–896

    Google Scholar 

  • NIH/CEPH Collaborative Mapping Group (1992) A comprehensive genetic linkage map of the human genome. Science 258:67–86

    PubMed  Google Scholar 

  • Olson JM, Boehnke M, Neiswanger K, Roche AF, Siervogel RM (1989) Alternative genetics models for the inheritance of the phenylthiocarbamide taste deficiency. Genet Epidemiol 6:423–434

    CAS  PubMed  Google Scholar 

  • Prodi DA, Drayna D, Angius A, Forabosco P, Piras D, Palmas MA, Pirastu M (2002) Genetics of bitter taste: identification of a Ch7q35 locus in a Sardinian genetic isolate. Am J Hum Genet 71[Suppl]:464

  • Reddy BM, Rao DC (1989) Phenylthiocarbamide taste sensitivity revisited; complete sorting test supports residual family resemblance. Genet Epidemiol 6:413–421

    CAS  PubMed  Google Scholar 

  • Reed D, Nanthakumar E, North M, Bell C, Bartoshuk L, Price RA (1999) Localization of a gene for bitter taster perception to human chromosome 5p15. Am J Hum Genet 64:1478–1480

    Article  CAS  PubMed  Google Scholar 

  • Spence MA, Falk CT, Neiswanger K, Field LL, Marazita ML, Allen FH, Siervogel RM, Roche AF, Crandall BF, Sparkes RS (1984) Estimating the recombination frequency for the PTC-Kell linkage. Hum Genet 67:183–186

    PubMed  Google Scholar 

  • Tepper B (1998) 6-n-Propylthiouracil: a genetic marker for taste, with implications for food preference and dietary habits. Am J Hum Genet 63:1271–1276

    Article  CAS  PubMed  Google Scholar 

  • Utah Marker Development Group (1995) A collection of ordered tetranucleotide-repeat markers from the human genome. The Utah Marker Development Group. Am J Hum Genet 57:619–628

    PubMed  Google Scholar 

  • Weber JL, Broman KW (2001) Genotyping for human whole-genome scans: past, present, and future. Adv Genet 42:77–96

    CAS  PubMed  Google Scholar 

  • White R, Leppert M, Bishop DT, Barker D, Berkowitz J, Brown C, Callahan P, Holm T, Jerominski L (1985) Construction of linkage maps with DNA markers for human chromosomes. Nature 313:101–105

    CAS  PubMed  Google Scholar 

  • Zhang W, Tapper W, Collins A, Jacobs KB, Elston RC, Morton NE (2001) A tournament of linkage tests in complex inheritance. Hum Hered 52:140–148

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

This investigation was supported by a Public Health Services research grant to the Huntsman General Clinical Research Center at the University of Utah, grant no. M01-RR00064 from the National Center for Research Resources, and by grant no. Z01-000046-04 from the Division of Intramural Research, NIDCD. It was also supported by generous gifts from the W.M. Keck Foundation and from the George S. and Delores Doré Eccles Foundation. We extend our sincere thanks to Melissa M. Dixon, UGRP Study Coordinator, and to all family members who participated in the UGRP.

Author information

Authors and Affiliations

  1. National Institute on Deafness and Other Communication Disorders, NIH, 5 Research Court, Rockville, MD 20850, USA

    Dennis Drayna & Un-Kyung Kim

  2. Utah Neurodevelopmental Genetics Project, Department of Psychiatry, University of Utah Medical Center, 421 Wakara Way, Suite 143, Salt Lake City, UT 84108, USA

    Hilary Coon & Tami Elsner

  3. Department of Human Genetics and Eccles Institute of Human Genetics, University of Utah, 15 N. 2030 East, Salt Lake City, UT 84112, USA

    Kevin Cromer, Brith Otterud, Lisa Baird & Mark Leppert

  4. Department of Pediatrics, University of Utah Medical Center, 50 N. Medical Drive, Salt Lake City, UT 84112, USA

    Andy P. Peiffer

Authors
  1. Dennis Drayna
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hilary Coon
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Un-Kyung Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Tami Elsner
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Kevin Cromer
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Brith Otterud
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Lisa Baird
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Andy P. Peiffer
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Mark Leppert
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Hilary Coon.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Drayna, D., Coon, H., Kim, UK. et al. Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p. Hum Genet 112, 567–572 (2003). https://doi.org/10.1007/s00439-003-0911-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00439-003-0911-y

Keywords

Search

Navigation