Haplotypes Heart

Key Words Associations allele asthma clinical disease haplotypes heart polymorphism SNPs transgenic. 

R16G/Q27E 2/2 haplotype T1641 Asthma, heart disease, and -i Pj-agonist affinity (156-158,161,163-165)... 

Since elucidation of the sequences of the genes encoding the alr a2, and subtypes of adrenoceptors, it has become clear that there are relatively common genetic polymorphisms for many of these receptor subtypes in humans. Some of these may lead to changes in critical amino acid sequences that have pharmacologic importance. Often, distinct polymorphisms occur in specific combination termed haplotypes. Some of these polymorphisms have been consistently shown to alter the susceptibility to diseases such as heart failure, to alter the propensity of a receptor to desensitize, and to alter therapeutic responses to drugs in diseases such as asthma. This remains an area of active research because studies have reported inconsistent results as to the pathophysiologic importance of some polymorphisms. 

Chowbay B, Cnmaraswamy S, Cheung Y B, et al. (2003). Genetic polymorphisms in MDRl and CYP3A4 genes in Asians and the inflnence of MDRl haplotypes on cyclosporine disposition in heart transplant recipients. Pharmacogen. 13 89-95. 

Mank-Seymour AR, Richmond JL, Wood LS, Reynolds JM, Fan YT, Wames GR, Milos PM, Thompson JF (2006) Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J 152 1116-1122 Martin AM, Nolan D, Gaudieri S, Almeida CA, Nolan R, James I, Carvalho F, Phillips E, Christiansen FT, Purcell AW, McCluskey J, Mallal S (2004) Predisposition to abacavir hypersensitivity conferred by HLA-B 5701 and a haplotypic Hsp70-Hom variant. Proc Natl Acad Sci U S A 101 4180-4185... 

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