Variant "ARID1A:c.1138-14428T>C"
Search result: 1 record
Variant information
Gene:
ARID1A 
Variant:
ARID1A:c.1138-14428T>C 
Genomic location:
chr1:27041714(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_006015.4:c.1138-14428T>C
protein_coding NM_139135.2:c.1138-14428T>C
dbSNP ID:
rs4589135  
GWAS trait:
heel bone mineral density 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered obesity(1)  
Detail：
  • Target disease:
    Obesity (DOID_9970)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered obesity 
    Evidence:
    OR=1.22, P=3.72×10(-4) 
    Effect:
    Our study revealed significant associations of two variants rs6598860 and rs4589135 in ARID2A with overweight/obesity.
    Reference:
    PMID29500370
    Title:
    Common variants of ARID1A and KAT2B are associated with obesity in Indian adolescents.
    Species studied:
    Human
    Abstract:
    Obesity involves alterations in transcriptional programs that can change in response to genetic and environmental signals through chromatin modifications. Since chromatin modifications involve different biochemical, neurological and molecular signaling pathways related to energy homeostasis, we hypothesize that genetic variations in chromatin modifier genes can predispose to obesity. Here, we assessed the associations between 179 variants in 35 chromatin modifier genes and overweight/obesity in 1283 adolescents (830 normal weight and 453 overweight/obese). This was followed up by the replication analysis of associated signals (18 variants in 8 genes) in 2247 adolescents (1709 normal weight and 538 overweight/obese). Our study revealed significant associations of two variants rs6598860 (OR=1.27, P=1.58×10-4) and rs4589135 (OR=1.22, P=3.72×10-4) in ARID1A with overweight/obesity. We also identified association of rs3804562 (β=0.11, P=1.35×10-4) in KAT2B gene with BMI. In conclusion, our study suggests a potential role of ARID1A and KAT2B genes in the development of obesity in adolescents and provides leads for further investigations.