Detection of imprinting effects for hypertension based on general pedigrees utilizing all affected and unaffected individuals

BMC Proceedings

Proceedings

Fangyuan Zhang¹  Shili Lin¹ 

[1] Department of Statistics, The Ohio State University, 1958 Neil Avenue, 43210, Columbus, OH, USA;

关键词: Imprint Gene;    Angelman Syndrome;    Unaffected Individual;    Genetic Analysis Workshop;    Affected Offspring;   

DOI  :  10.1186/1753-6561-8-S1-S52

来源: Springer

【 摘 要 】

Imprinting effects can lead to parent-of-origin patterns in many complex human diseases. For hypertension, previous studies revealed the possible involvement of imprinted genes. Genetic Analysis Workshop 18 real data, with hypertensive phenotype and genotype of more than 1000 individuals from 20 pedigrees, provided us an opportunity to further substantiate such findings. To test for imprinting effects, we developed a pedigree-parental-asymmetry test taking both affected and unaffected offspring into consideration (PPATu). We carried out a simulation study based on the Genetic Analysis Workshop 18 pedigrees to show that PPATu has well-controlled type I error and is indeed more powerful than the pedigree-parental-asymmetry test (PPAT), an existing method that does not utilize information from unaffected offspring. We then applied PPATu to Genetic Analysis Workshop 18 genome-wide association study data from 20 pedigrees. We identified a number of single-nucleotide polymorphisms showing significant imprinting effects that are within genomic regions that have been previously implicated to be associated with hypertension.

【 授权许可】

CC BY   
© Zhang and Lin; licensee BioMed Central Ltd. 2014