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Genetic dissection of Huntington's disease modification by variation at RRM2B.

Human molecular genetics - 18 Nov 2025

Lee Kiuk, Shin Baehyun, Kim Mingyu, Lee Seong Won, Oh Young Mi, Kim Kyung-Hee, Jiang Andrew, Ko Kwanyoung, Gillis Tammy, Lucente Diane, Lee Ramee, Kwak Seung, Lee Jong-Min, Wheeler Vanessa C, Yoo Andrew S, Gusella James F, MacDonald Marcy E, Seong Ihn Sik

Abstract excerpt

Huntington's disease (HD) is driven by somatic expansion of the HTT CAG repeat, with onset modified by genetic factors. One such modifier, 8AM1, maps to chromosome 8 near RRM2B, a gene not directly involved in the machinery that lengthens the repeat. To investigate this locus, we performed capture sequencing and identified variants at both the 5' and 3' ends of RRM2B with expected minor allele frequencies. A...

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Identifiers

PMID: 41092345
DOI: 10.1093/hmg/ddaf150
PMCID: PMC13220083

Genes

HTT

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