Variant "MIR149:n.86T>C"
Search result: 1 record
Variant information
Gene:
MIR149 
Variant:
MIR149:n.86T>C 
Genomic location:
chr2:241395503(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_002081.2:c.167-2944T>C
pseudogene NR_024014.1:n.104+511A>G
pseudogene NR_029702.1:n.86T>C
dbSNP ID:
rs2292832  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Pleiotropy(1)  
Modifier effect:
Altered phenotype(1)  
Detail：
  • Target disease:
    Charcot-Marie-Tooth Disease (DOID_10595)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Altered phenotype 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    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.
    Reference:
    PMID29729827
    Title:
    Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.
    Species studied:
    Human
    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.