Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus

BMC Genomics

Volumn 11, Issue 1, 2010, Pages

  Jeon, Jae Pil ^a   Shim, Sung Mi ^a   Nam, Hye Young ^a   Ryu, Gil Mi ^a   Hong, Eun Jung ^a   Kim, Hyung Lae ^a   Han, Bok Ghee ^a  

^a Korea Centers for Disease Control and Prevention   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; GLUCOSE; INSULIN; LEPTIN RECEPTOR;

ADULT; ARTICLE; CASE CONTROL STUDY; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; COPY NUMBER VARIATION; DIET RESTRICTION; EXON; FEMALE; GENE DOSAGE; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; GENE TARGETING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; HUMAN; INSULIN BLOOD LEVEL; KOREA; MAJOR CLINICAL STUDY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; POSTPRANDIAL STATE; QUANTITATIVE ANALYSIS; RISK ASSESSMENT; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; GENETIC PREDISPOSITION; GENETICS;

RODENTIA;

BLOOD GLUCOSE; CHOLESTEROL; DIABETES MELLITUS, TYPE 2; FEMALE; GENE DOSAGE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KOREA; MALE; RECEPTORS, LEPTIN;

EID: 77954393973     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-11-426     Document Type: Article

References (38)

1. Aiston S, Agius L. Leptin enhances glycogen storage in hepatocytes by inhibition of phosphorylase and exerts an additive effect with insulin. Diabetes 1999, 48:15-20. 10.2337/diabetes.48.1.15, 9892217.
2. Wauters M, Considine RV, Van Gaal LF. Human leptin: from an adipocyte hormone to an endocrine mediator. Eur J Endocrinol 2000, 143:293-311. 10.1530/eje.0.1430293, 11022169.
3. Minokoshi Y, Kim YB, Peroni OD, Fryer LG, Müller C, Carling D, Kahn BB. Leptin stimulates fatty-acid oxidation by activating AMP-activated protein kinase. Nature 2002, 415:339-343. 10.1038/415339a, 11797013.
4. Seufert J. Leptin effects on pancreatic beta-cell gene expression and function. Diabetes 2004, 53(Suppl 1):S152-8. 10.2337/diabetes.53.2007.S152, 14749281.
5. Clément K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougnères P, Lebouc Y, Froguel P, Guy-Grand BA. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998, 392:398-401. 10.1038/32911, 9537324.
6. Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 2007, 356:237-247. 10.1056/NEJMoa063988, 2670197, 17229951.
7. Chen H, Charlat O, Tartaglia LA, Woolf EA, Weng X, Ellis SJ, Lakey ND, Culpepper J, Moore KJ, Breitbart RE, Duyk GM, Tepper RI, Morgenstern JP. Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice. Cell 1996, 84:491-495. 10.1016/S0092-8674(00)81294-5, 8608603.
8. Lee GH, Proenca R, Montez JM, Carroll KM, Darvishzadeh JG, Lee JI, Friedman JM. Abnormal splicing of the leptin receptor in diabetic mice. Nature 1996, 379:632-635. 10.1038/379632a0, 8628397.
9. Rosmond R, Chagnon YC, Holm G, Chagnon M, Pérusse L, Lindell K, Carlsson B, Bouchard C, Björntorp P. Hypertension in obesity and the leptin receptor gene locus. J Clin Endocrinol Metab 2000, 85:3126-3131. 10.1210/jc.85.9.3126, 10999797.
10. Takahashi-Yasuno A, Masuzaki H, Miyawaki T, Ogawa Y, Matsuoka N, Hayashi T, Hosoda K, Inoue G, Yoshimasa Y, Nakao K. Leptin receptor polymorphism is associated with serum lipid levels and impairment of cholesterol lowering effect by simvastatin in Japanese men. Diabetes Res Clin Pract 2003, 62:169-175. 10.1016/S0168-8227(03)00163-3, 14625131.
11. van Rossum CT, Hoebee B, van Baak MA, Mars M, Saris WH, Seidell JC. Genetic variation in the leptin receptor gene, leptin, and weight gain in young Dutch adults. Obes Res 2003, 11:377-386. 10.1038/oby.2003.51, 12634434.
12. Loos RJ, Rankinen T, Chagnon Y, Tremblay A, Pérusse L, Bouchard C. Polymorphisms in the leptin and leptin receptor genes in relation to resting metabolic rate and respiratory quotient in the Québec Family Study. Int J Obes 2006, 30:183-190.
13. Park KS, Shin HD, Park BL, Cheong HS, Cho YM, Lee HK, Lee JY, Lee JK, Oh B, Kimm K. Polymorphisms in the leptin receptor (LEPR)--putative association with obesity and T2DM. J Hum Genet 2006, 51:85-91. 10.1007/s10038-005-0327-8, 16333525.
14. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004, 36:949-951. 10.1038/ng1416, 15286789.
15. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528. 10.1126/science.1098918, 15273396.
16. Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. Human Genome Structural Variation Working Group Completing the map of human genetic variation. Nature 2007, 447:161-165. 10.1038/447161a, 2685471, 17495918, Human Genome Structural Variation Working Group.
17. Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, Patel SG, Sheehan-Rooney K, Duda M, Cook PR, Evans DJ, Domin J, Flint J, Boyle JJ, Pusey CD, Cook HT. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006, 439:851-815. 10.1038/nature04489, 16482158.
18. Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005, 307:1434-1440. 10.1126/science.1101160, 15637236.
19. Wilson GM, Flibotte S, Chopra V, Melnyk BL, Honer WG, Holt RA. DNA copy number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling. Hum Mol Genet 2006, 15:743-749. 10.1093/hmg/ddi489, 16434481.
20. Braude I, Vukovic B, Prasad M, Marrano P, Turley S, Barber D, Zielenska M, Squire JA. Large scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasia. BMC Genomics 2006, 7:138. 10.1186/1471-2164-7-138, 1550726, 16756668.
21. Hollox EJ, Huffmeier U, Zeeuwen PL, Palla R, Lascorz J, Rodijk-Olthuis D, van de Kerkhof PC, Traupe H, de Jongh G, den Heijer M, Reis A, Armour JA, Schalkwijk J. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 2008, 40:23-25. 10.1038/ng.2007.48, 2447885, 18059266.
22. Blaskó B, Kolka R, Thorbjornsdottir P, Sigurdarson ST, Sigurdsson G, Rónai Z, Sasvári-Székely M, Bödvarsson S, Thorgeirsson G, Prohászka Z, Kovács M, Füst G, Arason GJ. Low complement C4B gene copy number predicts short-term mortality after acute myocardial infarction. Int Immunol 2007, 20:31-37. 10.1093/intimm/dxm117, 18032375.
23. Covey SD, Wideman RD, McDonald C, Unniappan S, Huynh F, Asadi A, Speck M, Webber T, Chua SC, Kieffer TJ. The pancreatic beta cell is a key site for mediating the effects of leptin on glucose homeostasis. Cell Metab 2006, 4:291-302. 10.1016/j.cmet.2006.09.005, 17011502.
24. Bingham NC, Anderson KK, Reuter AL, Stallings NR, Parker KL. Selective loss of leptin receptors in the ventromedial hypothalamic nucleus results in increased adiposity and a metabolic syndrome. Endocrinology 2008, 149:2138-2148. 10.1210/en.2007-1200, 2329259, 18258679.
25. McMinn JE, Liu SM, Liu H, Dragatsis I, Dietrich P, Ludwig T, Boozer CN, Chua SC. Neuronal deletion of Lepr elicits diabesity in mice without affecting cold tolerance or fertility. Am J Physiol Endocrinol Metab 2005, 289:E403-411. 10.1152/ajpendo.00535.2004, 15870101.
26. Huan JN, Li J, Han Y, Chen K, Wu N, Zhao AZ. Adipocyte-selective reduction of the leptin receptors induced by antisense RNA leads to increased adiposity, dyslipidemia, and insulin resistance. J Biol Chem 2003, 278:45638-45650. 10.1074/jbc.M304165200, 12925533.
27. Baskin DG, Seeley RJ, Kuijper JL, Lok S, Weigle DS, Erickson JC, Palmiter RD, Schwartz MW. Increased expression of mRNA for the long form of the leptin receptor in the hypothalamus is associated with leptin hypersensitivity and fasting. Diabetes 1998, 47:538-543. 10.2337/diabetes.47.4.538, 9568684.
28. Mercer JG, Moar KM, Hoggard N, Strosberg AD, Froguel P, Bailleul B. B219/OB-R 5'-UTR and leptin receptor gene-related protein gene expression in mouse brain and placenta: tissue-specific leptin receptor promoter activity. J Neuroendocrinol 2000, 12:649-655. 10.1046/j.1365-2826.2000.00501.x, 10849209.
29. Ghilardi N, Ziegler S, Wiestner A, Stoffel R, Heim MH, Skoda RC. Defective STAT signaling by the leptin receptor in diabetic mice. Proc Nat Acad Sci 1996, 93:6231-6235. 10.1073/pnas.93.13.6231, 39004, 8692797.
30. Couturier C, Sarkis C, Séron K, Belouzard S, Chen P, Lenain A, Corset L, Dam J, Vauthier V, Dubart A, Mallet J, Froguel P, Rouillé Y, Jockers R. Silencing of OB-RGRP in mouse hypothalamic arcuate nucleus increases leptin receptor signaling and prevents diet-induced obesity. Pro Natl Acad Sci 2007, 104:19476-19481.
31. Shin C, Abbott RD, Lee H, Kim J, Kimm K. Prevalence and correlates of orthostatic hypotension in middle-aged men and women in Korea: the Korean Health and Genome Study. J Hum Hypertens 2004, 18:717-723. 10.1038/sj.jhh.1001732, 15116144.
32. Lim S, Jang HC, Lee HK, Kimm KC, Park C, Cho NH. The relationship between body fat and C-reactive protein in middle-aged Korean population. Atherosclerosis 2006, 184:171-177. 10.1016/j.atherosclerosis.2005.04.003, 15904922.
33. Kim KJ, Lee HJ, Park MH, Cha SH, Kim KS, Kim HT, Kimm K, Oh B, Lee JY. SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population. Genomics 2006, 88:535-540. 10.1016/j.ygeno.2006.03.003, 16919420.
34. Jeon JP, Shim SM, Jung J, Nam HY, Oh B, Kimm K, Kim HL, Han BG. A Comprehensive Profile of DNA Copy Number Variations in a Korean Population: Identification of Copy Number Invariant Regions among Koreans. Exp Mol Med 2009, 41(9):618-628. 10.3858/emm.2009.41.9.068, 2753655, 19478558.
35. Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R, Bertini E, Rodriguez D, Vago P, Armour JA, Saugier-Veber P, Frebourg T, Leach RJ, Boespflug-Tanguy O. Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. Ann Hum Genet 2006, 70:66-77. 10.1111/j.1529-8817.2005.00208.x, 16441258.
36. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005, 7:387-397. 10.1016/j.ccr.2005.03.023, 15837627.
37. Jeon JP, Shim SM, Nam HY, Baik SY, Kim JW, Han BG. Copy number increase of 1p36.33 and mitochondrial genome amplification in Epstein-Barr virus-transformed lymphoblastoid cell lines. Cancer Genet Cytogenet 2007, 173:122-130. 10.1016/j.cancergencyto.2006.10.010, 17321327.
38. Baik SY, Yun HS, Lee HJ, Lee MH, Jung SE, Kim JW, Jeon JP, Shin YK, Rhee HS, Kimm KC, Han BG. Identification of stathmin 1 expression induced by Epstein-Barr virus in human B lymphocytes. Cell Prolif 2007, 40:268-281. 10.1111/j.1365-2184.2007.00429.x, 17472732.