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

Title
Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A
Authors
Nam S.H.Kanwal S.Nam D.E.Lee M.H.Kang T.H.Jung S.-C.Choi B.-O.Chung K.W.
Ewha Authors
정성철
SCOPUS Author ID
정성철scopus
Issue Date
2018
Journal Title
Neuromuscular Disorders
ISSN
0960-8966JCR Link
Citation
Neuromuscular Disorders vol. 28, no. 6, pp. 502 - 507
Keywords
Association studyCMT1AGenetic modifiermiR-149Phenotypic heterogeneity
Publisher
Elsevier Ltd
Indexed
SCIE; SCOPUS WOS scopus
Document Type
Article
Abstract
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. © 2018 Elsevier B.V.
DOI
10.1016/j.nmd.2018.04.002
Appears in Collections:
의과대학 > 의학과 > Journal papers
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