Ontology highlight
ABSTRACT:
SUBMITTER: Li JL
PROVIDER: S-EPMC1180695 | biostudies-literature | 2003 Sep
REPOSITORIES: biostudies-literature
Li Jian-Liang JL Hayden Michael R MR Almqvist Elisabeth W EW Brinkman Ryan R RR Durr Alexandra A Dodé Catherine C Morrison Patrick J PJ Suchowersky Oksana O Ross Christopher A CA Margolis Russell L RL Rosenblatt Adam A Gómez-Tortosa Estrella E Cabrero David Mayo DM Novelletto Andrea A Frontali Marina M Nance Martha M Trent Ronald J A RJ McCusker Elizabeth E Jones Randi R Paulsen Jane S JS Harrison Madeline M Zanko Andrea A Abramson Ruth K RK Russ Ana L AL Knowlton Beth B Djoussé Luc L Mysore Jayalakshmi S JS Tariot Suzanne S Gusella Michael F MF Wheeler Vanessa C VC Atwood Larry D LD Cupples L Adrienne LA Saint-Hilaire Marie M Cha Jang-Ho J JH Hersch Steven M SM Koroshetz Walter J WJ Gusella James F JF MacDonald Marcy E ME Myers Richard H RH
American journal of human genetics 20030801 3
Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h2=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), usi ...[more]