Genetic Studies : Genetic Inheritance Pattern Of Ibd Essay

1472 Words Dec 28th, 2015 6 Pages
Genetic Studies:
Familial linkage11 and epidemiological studies12 observed higher risk of IBD in relatives and monozygotic twins, which provided first evidence for genetic inheritance pattern of IBD. This information has prompted to identify and associate gene loci which co-habit with IBD phenotypes, using information from Whole Genome Linkage (WGL) studies. WGL studies identified several low frequency (better meaning), high-risk (better meaning) DNA variations. Notable first discovery was mapping14 and association15 of NOD2/CARD15 gene (whose transcription product involved in microbial component peptidoglycan detection and NF-kB activation) variants containing SNPs (Single Nucleotide Polymorphs) on chromosome16 implicated in pathogenesis of CD. Another powerful method known as Genome Wide Association studies (GWAS) have expedited the identification of gene loci, with the help of concurrent development of commercially available genotype testing platforms21 which are used for identification of SNPs. Various working groups have identified gene loci associated with either UC/CD or both. Meta-analysis by Anderson, CA et al.,18 identified 29 new gene loci bringing the total loci tally to 47 loci associated with UC. Another meta-analysis by Franke et al.,20 using data from six GWAS identified 30 novel loci and replicated previously associated loci, bringing the total loci tally to 71 loci with significant association to CD. Most of IBD loci also exhibit shared association with…

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