Login to MyKarger

New to MyKarger? Click here to sign up.

Login with Facebook

Forgot Password? Reset your password

Authors, Editors, Reviewers

For Manuscript Submission, Check or Review Login please go to Submission Websites List.

Submission Websites List

Institutional Login (Shibboleth)

For the academic login, please select your country in the dropdown list. You will be redirected to verify your credentials.

Table of Contents
Vol. 67, No. 3, 2009
Issue release date: February 2009
Section title: Original Paper
Free Access
Hum Hered 2009;67:193–205

Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup’ik Eskimo Populations

Chung W.K.a, b · Patki A.c · Matsuoka N.a, b · Boyer B.B.d · Liu N.c · Musani S.K.c · Goropashnaya A.V.d · Tan P.L.e · Katsanis N.e · Johnson S.B.a · Gregersen P.K.f · Allison D.B.c · Leibel R.L.a, b · Tiwari H.K.c
aColumbia University Medical Center, New York, NY, bNaomi Berrie Diabetes Center, New York, NY, cUniversity of Alabama at Birmingham, Birmingham, Ala., dUniversity of Alaska Fairbanks, Fairbanks, Alaska, eJohns Hopkins University, Baltimore, Md., and fFeinstein Institute for Medical Research, Manhasset, NY, USA
email Corresponding Author

Wendy K. Chung

Columbia University Medical Center

1150 St. Nicholas Avenue, Room 620

New York, NY 10032 (USA)

Tel. +1 212 851 5313, Fax +1 212 851 5306, E-Mail wkc15@columbia.edu


  1. Flegal KM, Carroll MD, Ogden CL, Johnson CL: Prevalence and trends in obesity among US adults, 1999–2000. JAMA 2002;288:1723–1727.
  2. Hedley AA, Ogden CL, Johnson CL, Carroll MD, Curtin LR, Flegal KM: Prevalence of overweight and obesity among US children, adolescents, and adults, 1999–2002. JAMA 2004;291:2847–2850.
  3. Calle EE, Thun MJ, Petrelli JM, Rodriguez C, Heath CW Jr: Body-mass index and mortality in a prospective cohort of U.S. adults. N Engl J Med 1999;341:1097–1105.
  4. Allison DB, Faith MS, Nathan JS: Risch’s lambda values for human obesity. Int J Obes Relat Metab Disord 1996;20:990–999.
  5. Stunkard AJ, Foch TT, Hrubec Z: A twin study of human obesity. JAMA 1986;256:51–54.
  6. Stunkard AJ, Harris JR, Pedersen NL, McClearn GE: The body-mass index of twins who have been reared apart. N Engl J Med 1990;322:1483–1487.
  7. Chung WK, Leibel RL: Molecular physiology of syndromic obesities in humans. Trends Endocrinol Metab 2005;16:267–272.
  8. Alharbi KK, Spanakis E, Tan K, Smith MJ, Aldahmesh MA, O’Dell SD, Sayer AA, Lawlor DA, Ebrahim S, Davey Smith G, O’Rahilly S, Farooqi S, Cooper C, Phillips DI, Day IN: Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltmadge. Hum Mutat 2007;28:294–302.
  9. Rankinen T, Zuberi A, Chagnon YC, Weisnagel SJ, Argyropoulos G, Walts B, Perusse L, Bouchard C: The human obesity gene map: The 2005 update. Obesity (Silver Spring) 2006;14:529–644.
  10. Ahima RS, Osei SY: Molecular regulation of eating behavior: New insights and prospects for therapeutic strategies. Trends Mol Med 2001;7:205–213.
  11. Berthoud HR: Multiple neural systems controlling food intake and body weight. Neurosci Biobehav Rev 2002;26:393–428.
  12. Kalra SP, Dube MG, Pu S, Xu B, Horvath TL, Kalra PS: Interacting appetite-regulating pathways in the hypothalamic regulation of body weight. Endocr Rev 1999;20:68–100.
  13. Saper CB, Chou TC, Elmquist JK: The need to feed: Homeostatic and hedonic control of eating. Neuron 2002;36:199–211.
  14. Chung WK, Leibel RL: Molecular physiology of monogenic and syndromic obesities in human; in Donohue P (ed): Energy and Metabolism and Obesity: Research and Clinical Applications. New Jersey, Humana Press, 2008, pp 1–22.
  15. Badano JL, Mitsuma N, Beales PL, Katsanis N: The ciliopathies: An emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006;7:125–148.
  16. Mitchell MK, Gregersen PK, Johnson S, Parsons R, Vlahov D: The New York cancer project: Rationale, organization, design, and baseline characteristics. J Urban Health 2004;81:301–310.
  17. Allison DB, Thiel B, St Jean P, Elston RC, Infante MC, Schork NJ: Multiple phenotype modeling in gene-mapping studies of quantitative traits: Power advantages. Am J Hum Genet 1998;63:1190–1201.
  18. Boyer BB, Mohatt GV, Lardon C, Plaetke R, Luick BR, Hutchison SH, de Mayolo GA, Ruppert E, Bersamin A: Building a community-based participatory research center to investigate obesity and diabetes in Alaska Natives. Int J Circumpolar Health 2005;64:281–290.
    External Resources
  19. Lohman T, Roche A: Anthropometric standardization reference manual. Champaign, IL, Human Kinetics Books, 1988.
  20. Oliphant A, Barker DL, Stuelpnagel JR, Chee MS: Beadarray technology: Enabling an accurate, cost-effective approach to high-throughput genotyping. Biotechniques 2002;Suppl:56–58, 60–51.
  21. Alf EF, Abrahams NM: The use of extreme groups in assessing relationships. Psychometrika 1975;40:563–572.
    External Resources
  22. Feldt LS: The use of extreme groups to test for the presence of a relationship. Psychometrika 1961;26:307–316.
    External Resources
  23. Fowler RL: Using the extreme groups strategy when measures are not normally distributed. Appl Psychol Meas 1992;16:249–259.
    External Resources
  24. Filzmoser P, Garrett RG, Reimann C: Multivariate outlier detection in exploration geochemistry. Comp Geosci 2005;31:579–587.
  25. Benjamini Y, Hochberg Y: Controlling the false discovery rate: A practical and powerful approach to multiple testing. J R Stat Soc Ser B (Methodol) 1995;57:289–300.
  26. Becker T, Knapp M: A powerful strategy to account for multiple testing in the context of haplotype analysis. Am J Hum Genet 2004;75:561–570.
  27. Lake SL, Lyon H, Tantisira K, Silverman EK, Weiss ST, Laird NM, Schaid DJ: Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered 2003;55:56–65.
  28. 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;70:425–434.
  29. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K: A comprehensive review of genetic association studies. Genet Med 2002;4:45–61.
  30. Allison DB, Gadbury GL, Heo M, Fernandez JR, Leed C-K, Prolla TA, Weindruch R: A mixture model approach for the analysis of microarray gene expression data. Comp Stat Data Anal 2002;39:1–20.
    External Resources
  31. Ando T, Ichimaru Y, Konjiki F, Shoji M, Komaki G: Variations in the preproghrelin gene correlate with higher body mass index, fat mass, and body dissatisfaction in young Japanese women. Am J Clin Nutr 2007;86:25–32.
  32. Hinney A, Hoch A, Geller F, Schafer H, Siegfried W, Goldschmidt H, Remschmidt H, Hebebrand J: Ghrelin gene: Identification of missense variants and a frameshift mutation in extremely obese children and adolescents and healthy normal weight students. J Clin Endocrinol Metab 2002;87:2716.
  33. Jo DS, Kim SL, Kim SY, Hwang PH, Lee KH, Lee DY: Preproghrelin leu72met polymorphism in obese Korean children. J Pediatr Endocrinol Metab 2005;18:1083–1086.
  34. Kuzuya M, Ando F, Iguchi A, Shimokata H: Preproghrelin leu72met variant contributes to overweight in middle-aged men of a Japanese large cohort. Int J Obes (Lond) 2006;30:1609–1614.
  35. Mager U, Lindi V, Lindstrom J, Eriksson JG, Valle TT, Hamalainen H, Ilanne-Parikka P, Keinanen-Kiukaanniemi S, Tuomilehto J, Laakso M, Pulkkinen L, Uusitupa M: Association of the leu72met polymorphism of the ghrelin gene with the risk of type 2 diabetes in subjects with impaired glucose tolerance in the Finnish diabetes prevention study. Diabet Med 2006;23:685–689.
  36. Miraglia del Giudice E, Santoro N, Cirillo G, Raimondo P, Grandone A, D’Aniello A, Di Nardo M, Perrone L: Molecular screening of the ghrelin gene in Italian obese children: The leu72met variant is associated with an earlier onset of obesity. Int J Obes Relat Metab Disord 2004;28:447–450.
  37. Steinle NI, Pollin TI, O’Connell JR, Mitchell BD, Shuldiner AR: Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. J Clin Endocrinol Metab 2005;90:6672–6677.
  38. Ukkola O, Ravussin E, Jacobson P, Perusse L, Rankinen T, Tschop M, Heiman ML, Leon AS, Rao DC, Skinner JS, Wilmore JH, Sjostrom L, Bouchard C: Role of ghrelin polymorphisms in obesity based on three different studies. Obes Res 2002;10:782–791.
  39. Vartiainen J, Kesaniemi YA, Ukkola O: Sequencing analysis of ghrelin gene 5′ flanking region: Relations between the sequence variants, fasting plasma total ghrelin concentrations, and body mass index. Metabolism 2006;55:1420–1425.
  40. Vivenza D, Rapa A, Castellino N, Bellone S, Petri A, Vacca G, Aimaretti G, Broglio F, Bona G: Ghrelin gene polymorphisms and ghrelin, insulin, IGF-1, leptin and anthropometric data in children and adolescents. Eur J Endocrinol 2004;151:127–133.
  41. Franklin RD, Allison DB: The rev.: An IBM BASIC program for Bayesian test interpretation. Behav Res Methods Instruments Computers 1992;24:491–492.
  42. Hoffman EB, Sen PK, Weinberg CR: Within-cluster resampling. Biometrika 2001;88:1121–1134.
    External Resources
  43. Follmann D, Proschan M, Leifer E: Multiple outputation: Inference for complex clustered data by averaging analyses from independent data. Biometrics 2003;59:420–429.