Variant "SELP:c.992G>A(p.Ser331Asn)"
Search results: 3 records
Variant information
Gene:
SELP 
Variant:
SELP:c.992G>A(p.Ser331Asn) 
Genomic location:
chr1:169580885(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003005.3:c.992G>A(p.Ser331Asn)
dbSNP ID:
rs6131  
GWAS trait:
no data 
Modifier statisitcs
Record:
3 
Disorder:
3 
Reference:
2 
Effect type:
Expressivity(3)  
Modifier effect:
Risk factor(2) ,Altered severity(1)  
Details：
  • Target disease:
    Frailty Measurement (EFO_0009885)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0097 
    Effect:
    The genetic variants of the four genes are associated with the frailty index
    Reference:
    PMID26396182
    Title:
    Genetic variant of Interleukin-18 gene is associated with the Frailty Index in the English Longitudinal Study of Ageing.
    Species studied:
    Human
    Abstract:
    The term frailty refers to a condition of increased vulnerability to stressors among older people, leading to a decline in homeostatic reserve. Frailty often leads to falls, hospitalisation and mortality, hence its importance for the delivery of health care to older adults. The pathophysiological mechanisms behind frailty are not well understood, but the decreased steroid-hormone production and elevated chronic systemic inflammation of older people appear to be major contributors.
  • Target disease:
    Pulmonary Hypertension (DOID_6432)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.019 
    Effect:
    A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.
    Reference:
    PMID18187665
    Title:
    Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease.
    Species studied:
    Human
    Abstract:
    Up to 30% of adult patients with sickle cell disease (SCD) will develop pulmonary hypertension (pHTN), a complication associated with significant morbidity and mortality. To identify genetic factors that contribute to risk for pHTN in SCD, we performed association analysis with 297 single nucleotide polymorphisms (SNPs) in 49 candidate genes in patients with sickle cell anemia (Hb SS) who had been screened for pHTN by echocardiography (n = 111). Evidence of association was primarily identified for genes in the TGFbeta superfamily, including activin A receptor, type II-like 1 (ACVRL1), bone morphogenetic protein receptor 2 (BMPR2), and bone morphogenetic protein 6 (BMP6). The association of pHTN with ACVRL1 and BMPR2 corroborates the previous association of these genes with primary pHTN. Moreover, genes in the TGFbeta pathway have been independently implicated in risk for several sickle cell complications, suggesting that this gene pathway is important in overall sickle cell pathophysiology. Genetic variation in the beta-1 adrenergic receptor (ADRB1) was also associated with pHTN in our dataset. A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk. These findings may offer new promise for identifying patients at risk for pHTN, developing new therapeutic targets, and reducing the occurrence of this life-threatening SCD complication.
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.019 
    Effect:
    A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk.
    Reference:
    PMID18187665
    Title:
    Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease.
    Species studied:
    Human
    Abstract:
    Up to 30% of adult patients with sickle cell disease (SCD) will develop pulmonary hypertension (pHTN), a complication associated with significant morbidity and mortality. To identify genetic factors that contribute to risk for pHTN in SCD, we performed association analysis with 297 single nucleotide polymorphisms (SNPs) in 49 candidate genes in patients with sickle cell anemia (Hb SS) who had been screened for pHTN by echocardiography (n = 111). Evidence of association was primarily identified for genes in the TGFbeta superfamily, including activin A receptor, type II-like 1 (ACVRL1), bone morphogenetic protein receptor 2 (BMPR2), and bone morphogenetic protein 6 (BMP6). The association of pHTN with ACVRL1 and BMPR2 corroborates the previous association of these genes with primary pHTN. Moreover, genes in the TGFbeta pathway have been independently implicated in risk for several sickle cell complications, suggesting that this gene pathway is important in overall sickle cell pathophysiology. Genetic variation in the beta-1 adrenergic receptor (ADRB1) was also associated with pHTN in our dataset. A multiple regression model, which included age and baseline hemoglobin as covariates, retained SNPs in ACVRL1, BMP6, and ADRB1 as independently contributing to pHTN risk. These findings may offer new promise for identifying patients at risk for pHTN, developing new therapeutic targets, and reducing the occurrence of this life-threatening SCD complication.