Variant "APOE:c.466T>C(p.Cys112Arg)"
Search result: 1 record
Variant information
Gene:
APOE 
Variant:
APOE:c.466T>C(p.Cys112Arg) 
Genomic location:
chr19:45411941(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001302688.1:c.466T>C(p.Cys156Arg)
protein_coding NM_000041.3:c.388T>C(p.Cys130Arg)
protein_coding NM_001302691.1:c.388T>C(p.Cys130Arg)
protein_coding NM_001302689.1:c.388T>C(p.Cys130Arg)
protein_coding NM_001302690.1:c.388T>C(p.Cys130Arg)
protein_coding NM_001128916.1:c.*5515T>C
protein_coding NM_001128917.1:c.*5515T>C
protein_coding NM_006114.2:c.*5515T>C
show all
dbSNP ID:
rs429358  
GWAS trait:
apolipoprotein E measurement,parental longevity,neuritic plaque measurement,cerebral amyloid angiopathy,neurofibrillary tangles measurement,Alzheimer's disease,beta-amyloid 1-42 measurement,amyloid-beta measurement,Lewy body dementia,Lewy body dementia measurement,neuroimaging measurement,cognitive decline,atrophic macular degeneration,age-related macular degeneration,wet macular degeneration,cerebral amyloid deposition measurement,high density lipoprotein cholesterol measurement,red blood cell distribution width,platelet count,physical activity measurement,C-reactive protein measurement,total cholesterol measurement,low density lipoprotein cholesterol measurement,blood protein measurement,p-tau measurement,t-tau measurement,Alzheimer's disease biomarker measurement,hippocampal volume,mortality,cognitive impairment measurement,memory performance,triglyceride measurement,waist-hip ratio 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Gynaecopathia (No data)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    Homozygous mutant carriage of SNPs predisposing to an elevated risk of early postmenopausal bone loss and osteoporosis, may be a new means to individualize the counseling on risks and benefits of ERT/HRT.
    Reference:
    PMID14683420
    Title:
    Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology.
    Species studied:
    Human
    Abstract:
    The number of reports investigating disease susceptibility based on the carriage of low-penetrance, high-frequency polymorphisms has steadily increased over the last years. Evidence based on meta-analyses of individual case-control studies is accumulating, defining specific individual variations in disease susceptibility. For example, genetic variations of the estradiol metabolism have been described as significant contributors to disease susceptibility with variations depending on ethnic background. In the field of obstetrics and gynecology, the genetic contribution of polymorphic markers to a series of disorders has been characterized. These disorders include recurrent pregnancy loss, pre-eclampsia, endometriosis, breast cancer, and hormone replacement therapy (HRT)-related complications such as thrombosis. Among other genetic markers, thrombophilic genetic variants, such as the Factor V Leiden and prothrombin G20210A polymorphisms, as well as genetic variants of cytochrome P450 (CYP) enzymes, for example, CYP19 and CYP1B1, have been established as genetic risk markers and disease modifiers of recurrent and sporadic pregnancy loss and HRT-independent and -dependent breast cancer, respectively. In addition, meta-analyses of data in the literature established the TGFBR1*6A, GSTP I105V, and TP53 R72P polymorphisms, as well as the GSTM1 gene deletion as low-penetrance genetic risk factors of sporadic breast cancer. With respect to genetic modulation of therapeutic effects, beneficial effects of estrogen replacement therapy and HRT are modulated by the carriage of single nucleotide polymorphisms, for example, osteoprotection and blood lipid changes by the estrogen receptor-alpha (ER-a) PvuII polymorphism. Polymorphisms of the catechol-O-methyltransferase (COMT), ER-alpha, IL-1 receptor antagonist, and Factor V genes have been demonstrated to modulate the timing of natural menopause. Lastly, a strong genetic contribution of polymorphisms to the development and the clinical course of endometriosis has been established with data pointing to polymorphisms of the COMT, GST, NAT-2, and ER-alpha genes as susceptibility markers. In summary, the available evidence points to a number of polymorphisms of a wide variety of genes as strong hereditary determinants of the susceptibility to benign and malignant gynecologic and obstetric conditions.