Population stratiWcation may bias analysis of PGC-1α as a modiWer of age at Huntington disease motor onset

Human Genetics

Volumn 131, Issue 12, 2012, Pages 1833-1840

  Ramos, Eliana Marisa ^a,b   Latourelle, Jeanne C ^c   Lee, Ji Hyun ^a   Gillis, Tammy ^a   Mysore, Jayalakshmi S ^a   Squitieri, Ferdinando ^d   Di Pardo, Alba ^d   Di Donato, Stefano ^e   Hayden, Michael R ^f   Morrison, Patrick J ^g,h   Nance, Martha ⁱ   Ross, Christopher A ^j   Margolis, Russell L ^j   Gomez Tortosa, Estrella ^k   Ayuso, Carmen ^l   Suchowersky, Oksana ^m   Trent, Ronald J ⁿ   McCusker, Elizabeth ^o   Novelletto, Andrea ^p   Frontali, Marina ^q   Jones, Randi ^q   Ashizawa, Tetsuo ^q   Frank, Samuel ^c   Saint Hilaire, Marie Helene ^c   Hersch, Steven M ^q   Rosas, Herminia D ^q   Lucente, Diane ^a   Harrison, Madaline B ^q   Zanko, Andrea ^q   Marder, Karen ^q   Gusella, James F ^a   Lee, Jong Min ^a   Alonso, Isabel ^b   Sequeiros, Jorge ^b   Myers, Richard H ^c   MacDonald, Marcy E ^a   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF PORTO   (Portugal)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d IRCCS NEUROMED   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^g ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^h UNIVERSITY OF ULSTER   (United Kingdom)

ⁱ HENNEPIN COUNTY MEDICAL CENTER   (United States)

^j JOHNS HOPKINS UNIVERSITY   (United States)

^k Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^l CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^m UNIVERSITY OF ALBERTA   (Canada)

ⁿ UNIVERSITY OF SYDNEY   (Australia)

^o WESTMEAD HOSPITAL   (Australia)

^p UNIVERSITY OF ROME TOR VERGATA   (Italy)

^q NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA; HEAT SHOCK PROTEIN; HTT PROTEIN, HUMAN; NERVE PROTEIN; PPARGC1A PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ALLELE; ARTICLE; DNA SEQUENCE; ENVIRONMENTAL FACTOR; EUROPE; GENOTYPE; HUMAN; HUMAN TISSUE; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MOTOR DYSFUNCTION; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; COHORT ANALYSIS; FEMALE; GENETICS; MALE; MIDDLE AGED; ONSET AGE; POPULATION GENETICS; TRINUCLEOTIDE REPEAT;

ADULT; AGE OF ONSET; COHORT STUDIES; EUROPE; FEMALE; GENETICS, POPULATION; HEAT-SHOCK PROTEINS; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84870996209     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-012-1205-z     Document Type: Article

References (28)

1. Alberch J, Lopez M, Badenas C, Carrasco JL, Mila M, Munoz E, Canals JM (2005) Association between BDNF Val66Met polymorphism and age at onset in Huntington disease. Neurology 65(6):964-965. doi:10.1212/01.wnl.0000175977. 57661.b1
2. Che HV, Metzger S, Portal E, Deyle C, Riess O, Nguyen HP (2011) Localization of sequence variations in PGC-1alpha inXuence their modifying effect in Huntington disease. Mol Neurodegener 6(1):1. doi:10.1186/1750-1326-6-1
3. Cui L, Jeong H, Borovecki F, Parkhurst CN, Tanese N, Krainc D (2006) Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell 127(1):59-69. doi:10.1016/j.cell.2006.09.015
4. Di Maria E, Marasco A, Tartari M, Ciotti P, Abbruzzese G, Novelli G, Bellone E, Cattaneo E, Mandich P (2006) No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease. Neurobio Dis 24(2):274-279. doi:10.1016/ j.nbd.2006.07.002
5. Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, Gray J, Conneally P, Young A, Penney J, Hollingsworth Z, Shoulson I, Lazzarini A, Falek A, Koroshetz W, Sax D, Bird E, Vonsattel J, Bonilla E, Alvir J, Bickham Conde J, Cha J-H, Dure L, Gomez F, Ramos M, Sanchez-Ramos J, Snodgrass S, de Young M, Wexler N, Moscowitz C, Penchaszadeh G, MacFarlane H, Anderson M, Jenkins B, Srinidhi J, Barnes G, Gusella JF, MacDonald M (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 4(4):387-392. doi:10.1038/ng0893-387
6. Lao O, Lu TT, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, BindoV LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Ruther A, Schreiber S, Becker C, Nurnberg P, Nelson MR, Krawczak M, Kayser M (2008) Correlation between genetic and geographic structure in Europe. Curr Biol 18(16):1241-1248. doi:10.1016/ j.cub.2008.07.049
7. Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, Landwehrmeyer GB, Myers RH, Macdonald ME, Gusella JF (2012) CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology 78(10):690-695. doi:10.1212/WNL.0b013e318249f683
8. Leone TC, Lehman JJ, Finck BN, SchaeVer PJ, Wende AR, Boudina S, Courtois M, Wozniak DF, Sambandam N, Bernal-Mizrachi C, Chen Z, Holloszy JO, Medeiros DM, Schmidt RE, SaYtz JE, Abel ED, Semenkovich CF, Kelly DP (2005) PGC-1alpha deWciency causes multi-system energy metabolic derangements: Muscle dysfunction, abnormal weight control and hepatic steatosis. PLoS Biol 3(4):e101. doi:10.1371/journal.pbio.0030101
9. Lin J, Wu PH, Tarr PT, Lindenberg KS, St-Pierre J, Zhang CY, Mootha VK, Jager S, Vianna CR, Reznick RM, Cui L, Manieri M, Donovan MX, Wu Z, Cooper MP, Fan MC, Rohas LM, Zavacki AM, Cinti S, Shulman GI, Lowell BB, Krainc D, Spiegelman BM (2004) Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice. Cell 119(1):121-135. doi:10.1016/j.cell. 2004.09.013
10. Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Baliko L, Wieczorek S, Zaremba J, HoVman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribai P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O (2006) Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet 120(2):285-292. doi:10.1007/ s00439-006-0221-2
11. Novembre J, Johnson T, Bryc K, Kutalik Z, Boyko AR, Auton A, Indap A, King KS, Bergmann S, Nelson MR, Stephens M, Bustamante CD (2008) Genes mirror geography within Europe. Nature 456(7218):98-101. doi:10.1038/nature07331
12. Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB (2010) Observing Huntington's disease: The European Huntington's Disease Network's REGISTRY. PLoS Curr 2. doi:10.1371/currents. RRN1184
13. Panas M, Avramopoulos D, Karadima G, Petersen MB, Vassilopoulos D (1999) Apolipoprotein E and presenilin-1 genotypes in Huntington's disease. J Neurol 246(7):574-577. doi:10.1007/ s004150050406
14. Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P, Seligsohn U, Waliszewska A, Schirmer C, Ardlie K, Ramos A, Nemesh J, Arbeitman L, Goldstein DB, Reich D, Hirschhorn JN (2008) Discerning the ancestry of European Americans in genetic association studies. PLoS Genet 4(1):e236. doi:10.1371/journal. pgen.0030236
15. Puigserver P, Spiegelman BM (2003) Peroxisome proliferator-activated receptor-gamma coactivator 1 alpha (PGC-1 alpha): Transcriptional coactivator and metabolic regulator. Endocr Rev 24(1):78-90. doi:10.1210/er.2002-0012
16. Puigserver P, Wu Z, Park CW, Graves R, Wright M, Spiegelman BM (1998) A cold-inducible coactivator of nuclear receptors linked to adaptive thermogenesis. Cell 92(6):829-839. doi:10.1016/S0092-8674(00)81410-5
17. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC (2007) PLINK: A tool set for whole-genome association and populationbased linkage analyses. Am J Hum Genet 81(3):559-575. doi:10.1086/519795
18. Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D (1997) Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc Nat Acad Sci USA 94(8):3872-3876
19. Scarmeas N, Luchsinger JA, Mayeux R, Stern Y (2007) Mediterranean diet and Alzheimer disease mortality. Neurology 69(11):1084-1093. doi:10.1212/01.wnl.0000277320.50685.7c
20. SoW F, Cesari F, Abbate R, Gensini GF, Casini A (2008) Adherence to Mediterranean diet and health status: Meta-analysis. BMJ 337:a1344. doi:10.1136/bmj.a1344
21. Soyal SM, Felder TK, Auer S, Hahne P, OberkoXer H, Witting A, Paulmichl M, Landwehrmeyer GB, Weydt P, Patsch W (2012) A greatly extended PPARGC1A genomic locus encodes several new brain-speciWc isoforms and inXuences Huntington disease age of onset. Hum Mol Genet. doi:10.1093/hmg/dds177
22. St-Pierre J, Drori S, Uldry M, Silvaggi JM, Rhee J, Jager S, Handschin C, Zheng K, Lin J, Yang W, Simon DK, Bachoo R, Spiegelman BM (2006) Suppression of reactive oxygen species and neurodegeneration by the PGC-1 transcriptional coactivators. Cell 127(2):397-408. doi:10.1016/j.cell.2006.09.024
23. Taherzadeh-Fard E, Saft C, Andrich J, Wieczorek S, Arning L (2009) PGC-1alpha as modiWer of onset age in Huntington disease. Mol Neurodegener 4:10. doi:10.1186/1750-1326-4-10
24. Taherzadeh-Fard E, Saft C, Akkad DA, Wieczorek S, Haghikia A, Chan A, Epplen JT, Arning L (2011) PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modiWers of Huntington disease. Mol Neurodegener 6(1):32. doi:10.1186/ 1750-1326-6-32
25. The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72(6):971-983. doi:0092-8674(93)90585-E
26. Warner JP, Barron LH, Brock DJ (1993) A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 7(3):235-239. doi:10.1006/mcpr.1993.1034
27. Weydt P, Pineda VV, Torrence AE, Libby RT, SatterWeld TF, Lazarowski ER, Gilbert ML, Morton GJ, Bammler TK, Strand AD, Cui L, Beyer RP, Easley CN, Smith AC, Krainc D, Luquet S, Sweet IR, Schwartz MW, La Spada AR (2006) Thermoregulatory and metabolic defects in Huntington's disease transgenic mice implicate PGC-1alpha in Huntington's disease neurodegeneration. Cell Metab 4(5):349-362. doi:10.1016/j.cmet.2006.10.004
28. Weydt P, Soyal SM, Gellera C, Didonato S, Weidinger C, OberkoXer H, Landwehrmeyer GB, Patsch W (2009) The gene coding for PGC-1alpha modiWes age at onset in Huntington's disease. Mol Neurodegener 4:3. doi:10.1186/1750-1326-4-3