Gene "HNF1A"
Found 1 record
Gene information
Gene symbol:
HNF1A
See related:
Ensembl: ENSG00000135100, Gene ID: 6927
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered susceptibility and altered onset time(1)  
Detail：
  • Variant 1:
    HNF1A:c.79A>C(p.Ile27Leu)
    Gene:
    HNF1A
    Genomic location:
    chr12:121416650
    dbSNP ID:
    rs1169288
    Target disease:
    Maturity-Onset Diabetes Of The Young(DOID_0050524)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility and altered onset time 
    Evidence:
    Each 27L allele is associated with a 1.6-year decrease (95% CI -2.6, -0.7) in age at diagnosis, specifically in the subset (n = 444) of individuals with a PTV. 
    Effect:
    Common variants at the HNF1A locus (rs1169288 [I27L]), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in individuals with HNF1A-MODY.
    Reference:
    PMID29895593
    Title:
    The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
    Species studied:
    Human
    Abstract:
    There is wide variation in the age at diagnosis of diabetes in individuals with maturity-onset diabetes of the young (MODY) due to a mutation in the HNF1A gene. We hypothesized that common variants at the HNF1A locus (rs1169288 [I27L], rs1800574 [A98V]), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in individuals with HNF1A-MODY. Meta-analysis of two independent cohorts, comprising 781 individuals with HNF1A-MODY, found no significant associations between genotype and age at diagnosis. However after stratifying according to type of mutation (protein-truncating variant [PTV] or missense), we found each 27L allele to be associated with a 1.6-year decrease (95% CI -2.6, -0.7) in age at diagnosis, specifically in the subset (n = 444) of individuals with a PTV. The effect size was similar and significant across the two independent cohorts of individuals with HNF1A-MODY. We report a robust genetic modifier of HNF1A-MODY age at diagnosis that further illustrates the strong effect of genetic variation within HNF1A upon diabetes phenotype.