Disease relevance of C9orf3

• BACKGROUND: The APO B gene is characterised by numerous polymorphic sites, three of which (XbaI, EcoRI, SpIns/Del) are related to levels of total cholesterol (TC), low-density lipoproteins, apo B and tryglicerides, and to coronary artery disease (CAD) and/or myocardial infarction (MI) [1].
• Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus [2].
• DNA polymorphisms in linkage disequilibrium at the 3' end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease [3].
• Macular toxicity was independent of both APO E genotype and cumulative chloroquine dose [4].

Psychiatry related information on C9orf3

• The polymorphic K variant of the butyrylcholinesterase ( BCHE-K ) gene recently has been demonstrated to have an elevated frequency in Alzheimer's disease (AD) patients carrying the epsilon4 allele of the apolipoprotein (APO E) gene when compared with a control population [5].
• The association between epsilon4 and early onset bipolar disorder (BPD) with psychotic symptoms suggests that APO E gene is a risk factor for a subgroup of BPD, or influences the phenotypic expression (i.e. psychotic symptoms or age at onset) of manic depressive illness [6].

High impact information on C9orf3

• We have investigated the effect of the APO D polymorphism on triglycerides, total cholesterol, LDL-, VLDL-, HDL-, and HDL3 cholesterol in 352 Nigerian blacks (190 males and 162 females).(ABSTRACT TRUNCATED AT 250 WORDS)[7]
• To investigate the extent of genetic variation at the APO D structural locus, we have developed an isoelectric focusing-immunoblotting technique and have screened a large number of plasma samples from U.S. whites, U.S. blacks, Nigerian blacks, the Aleuts of the Pribilof Islands, Eskimo groups from Kodiak Island and St [7].
• No genetic polymorphism has been reported in the APO D gene product [7].
• In populations with black ancestry, the products of two alleles, APO D*1 and APO D*2, have been observed at respective allele frequencies .987 and .013 in U.S. blacks and .978 and .022 in Nigerian blacks [7].
• AvaII RFLP at the human apolipoprotein CII (APO CII) gene locus [8].

Biological context of C9orf3

• APO E genotype was determined by PCR-RFLP [4].
• While no correlation did result between the serum level and the serological phenotype of the As lipoprotein, the peptidic distribution of the APO parts from different As-LDL showed differences correlated to the allotypic phenotype [9].
• The APO-A4 gene was up-regulated in familial PCA [10].

Associations of C9orf3 with chemical compounds

• CONCLUSIONS: Reduced apo B levels were observed associated to chloroquine treatment and 2/3 APO E genotype [4].
• Some evidence also indicates that APO E2 individuals are more likely to respond favorably to gemfibrozil and cholestyramine [11].
• On the other hand, it appears that with probucol, APO E4 genotype individuals may improve plasma lipoprotein-lipid profiles more than APO E3 individuals [11].

Analytical, diagnostic and therapeutic context of C9orf3

• Stratification of these groups with reference to the APO E epsilon4 allele also showed no difference between AD and control groups [5].
• To assess how each polymorphism of the APO B gene was associated with CAD and MI risk, we carried out a meta-analysis of all published studies [1].
• Both cross-sectional and longitudinal studies generally indicate that APO E2 and E3 individuals improve plasma lipoprotein-lipid profiles more with exercise training than APO E4 individuals [11].
• APO E2 and E3 genotype perimenopausal women appear to improve plasma lipoprotein-lipid profiles more with hormone replacement therapy than APO E4 women [11].
• On the other hand, low-fat diet interventions tend to reduce plasma LDL cholesterol and, perhaps, plasma total cholesterol levels more in APO E4 than in APO E2 or E3 individuals [11].

References