Haplotypes disease

Many statistical methods have been developed for association studies [52, 53] that mostly consist of testing each polymorphism separately with the disease. It has been shown that the power of such methods decreases rapidly when the markers are in low or even moderate LD with the risk-conferring polymorphism [54]. One way to overcome this defect is to use haplotype-based tests [47, 55, 56] that combine different alleles of different markers. Haplotypes are likely to capture... 

In addition, haplotype-based methods can increase the power of association studies since the allelic architecture of the risk factor is unknown. Recent examples of association studies suggest that haplotypes can be the responsible factors [58]. The Apo E4 allele , which is associated with Alzheimer s disease, is a possible example since it results from the substitution of two of non-conservative polymorphisms encoding for residues 112 and 158 [59]. 

Fallin D, Cohen A, Essioux L, Chumakov I, Blumenfeld M, Cohen D et al. Genetic analysis of case/control data using estimated haplotype frequencies application to APOE locus variation and Alzheimer s disease. Genome Res 2001 11[1] 143—151. 

Farrer, M., Maraganore, D. M., Lockhart, P. etal. alpha-Synuclein gene haplotypes are associated with Parkinson s disease. Hum. Mol. Genet. 10 1847-1851,2001. 

Pristane (2,6,10,14-tetramethylpentadecane) is a mineral oil known to induce arthritis, a disease also referred to as pristane-induced arthritis (PIA) [58], Susceptibility to PIA is MHC-haplotype dependent, in that DBA/1 (H2q) mice are susceptible whereas DBA/2 (H2d) are not, and is accompanied by a broad spectrum of autoantibodies, including anti-Rheuma Factor (RF), anti-collagen and antibodies to heat shock proteins (HSP). PIA is clearly immune dependent since nu/nu mice and irradiated mice do not develop PIA. PIA involves polyclonal T cell activation [59], particularly CD4+ cells [58], Intriguingly, mice can be protected from developing PIA by HSP65-specilic CD4+ Th2 cells [60],... 

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

Dideberg, V., Theatre, E., Eamir, F., et al. (2006) The TNF/ADAM 17 system implication of an ADAM 17 haplotype in the clinical response to infliximab in Crohn s disease. Pharmacogenet. Genomics. 16, 727-734. 

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