Variant "SGSM2:c.2803-217T>C"
Search result: 1 record
Variant information
Gene:
SGSM2 
Variant:
SGSM2:c.2803-217T>C 
Genomic location:
chr17:2280934(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_014853.2:c.2803-217T>C
protein_coding NM_001098509.1:c.2668-217T>C
dbSNP ID:
rs2429917  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered low-density lipoprotein cholesterol(1)  
Detail：
  • Target disease:
    Plasma Lipid Level (CMO_0000544)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered low-density lipoprotein cholesterol 
    Evidence:
    P=0.024 
    Effect:
    We identified a significant (p= 0.024) age-dependent association between SGSM2 rs2429917 and LDL-C
    Reference:
    PMID21777205
    Title:
    Evidence for age as a modifier of genetic associations for lipid levels.
    Species studied:
    Human
    Abstract:
    In order to identify novel genetic variants that influence plasma lipid concentrations, we performed a genome-wide association study (GWAS) comprised of 411 children under 18 years of age, ascertained at St. Jude Children's Research Hospital, all of whom were of European, African, or Mexican descent. Promising associations (p < 10(-5)) were subsequently examined in 1040 additional youths and 3508 adults from the Third National Health and Nutrition Examination Survey (NHANES III), a diverse population-based study. Three genotype-phenotype associations replicated in NHANES III youths and three associated in NHANES III adults at p < 0.05; however, no single association was significant in both youths and adults. The most significant association (p= 0.009) in NHANES III youths was between low-density lipoprotein cholesterol (LDL-C) and intronic rs2429917 among participants of African descent. Given the known age dependency of lipid levels, we also tested for gene-age interactions in NHANES III participants across all ages. We identified a significant (p= 0.024) age-dependent association between SGSM2 rs2429917 and LDL-C. This finding illustrates the utility of using children to discover novel variants associated with complex phenotypes and the importance of considering age-dependent genetic effects in association studies of lipid levels.