Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A

Soo Hyun Nam, Sumaira Kanwal, Da Eun Nam, Min Hee Lee, Tae Hoon Kang, Sung Chul Jung, Byung Ok Choi, Ki Wha Chung

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Charcot–Marie–Tooth disease type 1A (CMT1A) is caused by 1.5-fold increased dosage of the PMP22; however, onset age and severity vary considerably among patients. The exact reason behind these phenotypic heterogeneities has rarely been discovered yet. Because miRNAs are the key regulators of gene expression, we speculated that variants of miRNAs might be the genetic modifiers for CMT1A. This study noticed a common single nucleotide polymorphism (n.86T > C, rs2292832) in the miR-149 which was predicted to target several CMT causing genes including PMP22. The rs2292832 was located near the 3′ end of the precursor microRNA of the miR-149. We performed an association study between the rs2292832 polymorphism and clinical phenotypes of CMT1A in subjects consisting of 176 unrelated Korean CMT1A patients and 176 controls. From this study, we observed that rs2292832 was closely associated to the onset age and severity of CMT1A. Particularly, the TC and CC genotypes were significantly associated with late onset and mild symptom. Therefore, we suggest that the rs2292832 variant in the miR-149 is a potential candidate as a genetic modifier which affects the phenotypic heterogeneity of CMT1A. This study may provide the first evidence that polymorphism in the miR gene is associated with the CMT1A phenotype.

Original languageEnglish
Pages (from-to)502-507
Number of pages6
JournalNeuromuscular Disorders
Issue number6
StatePublished - Jun 2018


  • Association study
  • CMT1A
  • Genetic modifier
  • miR-149
  • Phenotypic heterogeneity


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