Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.

ABSTRACT: Parent-of-origin (PofO) effects, such as imprinting are a phenomenon where the effect of variants depends on parental origin. Conventional association studies assume that phenotypic effects are independent of parental origin, and are thus severely underpowered to detect such non-Mendelian effects. Risk of orofacial clefts is influenced by genetic and environmental effects, the latter including maternal-specific factors such as perinatal smoking and folate intake. To identify variants showing PofO effects in orofacial clefts we have used a modification of the family-based transmission disequilibrium test to screen for biased transmission from mothers and fathers to affected offspring, biased ratios of maternal versus paternal transmission, and biased frequencies of reciprocal classes of het

SUBMITTER: Garg P 

PROVIDER: S-EPMC4023210 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature