@entity2232 gene as a modifier in dilated XXXX .

@entity1 @entity70773 @entity6344 @entity712 @entity296 @entity5988 @entity70775 @entity2232 @entity384 @entity70774 @entity74 @entity13284
@entity384 ( @entity384 ) is a @entity296 of unknown etiology with @entity5988 and @entity296 leading to @entity712 . It is considered to be a @entity74 with the interplay of both genetic and environmental factors. One of the possible genes implicated in @entity384 is @entity2232 ( @entity2232 ). The genetic variants of @entity2232 may be involved in the pathophysiology of @entity384 hence the entire @entity2232 gene was screened to examine for the possible genotypic associations with @entity384 . A total of 115 @entity384 @entity1 and 250 control subjects were included in the present study. PCR based SSCP analysis was carried out followed by commercial sequencing. Screening of @entity2232 revealed two common and two rare polymorphisms. Allelic and genotypic frequencies were estimated in @entity1 and control groups by appropriate statistical tests. The heterozygotes of insertion variation (+138A) were found to exhibit four-fold increase risk to @entity384 (OR=4.12, 95% CI 2.10-8.08; p=0.0001). The two rare variants ( @entity13284 transition ( @entity70773 ) at c.90 and @entity6344 transition ( @entity70774 ) at c.119) observed in the present study were found to be unique in @entity384 . The secondary mRNA structures of these variations were found to have less free energy than wild type. The haplotype analysis revealed 4A-T to be risk haplotype for @entity384 (OR 5.90, 95% CI 2.29-15.25, p=0.0001). In conclusion, @entity2232 polymorphisms (+138A, A30A, @entity70775 ) appear to play a significant role in the pathogenesis of @entity384 , as they influence the stability of protein. The increased @entity2232 production may lead to constriction of coronary arteries, reducing coronary blood flow which may in turn increase the load on left ventricle, impairing contractility of the heart resulting in a @entity384 phenotype, an end stage of @entity712 .
