NDLI: Detection of parent-of-origin effects for quantitative traits using general pedigree data

Content Provider	Springer Nature Link
Author	HE, HAI QIANG MAO, WEI GAO PAN, DONGDONG ZHOU, JI YUAN CHEN, PING YAN FUNG, WING KAM
Copyright Year	2014
Abstract	Genomic imprinting is a genetic phenomenon in which certain alleles are differentially expressed in a parent-of-origin-specific manner, and plays an important role in the study of complex traits. For a diallelic marker locus in human, the parental-asymmetry tests Q-PAT(c) with any constant c were developed to detect parent-of-origin effects for quantitative traits. However, these methods can only be applied to deal with nuclear families and thus are not suitable for extended pedigrees. In this study, by making no assumption about the distribution of the quantitative trait, we first propose the pedigree parental-asymmetry tests Q-PPAT(c) with any constant c for quantitative traits to test for parent-of-origin effects based on nuclear families with complete information from general pedigree data, in the presence of association between marker alleles under study and quantitative traits. When there are any genotypes missing in pedigrees, we utilize Monte Carlo (MC) sampling and estimation and develop the Q-MCPPAT(c) statistics to test for parent-of-origin effects. Various simulation studies are conducted to assess the performance of the proposed methods, for different sample sizes, genotype missing rates, degrees of imprinting effects and population models. Simulation results show that the proposed methods control the size well under the null hypothesis of no parent-of-origin effects and Q-PPAT(c) are robust to population stratification. In addition, the power comparison demonstrates that Q-PPAT(c) and Q-MCPPAT(c) for pedigree data are much more powerful than Q-PAT(c) only using two-generation nuclear families selected from extended pedigrees.
Starting Page	339
Ending Page	347
Page Count	9
File Format	PDF
ISSN	00221333
Journal	Journal of Genetics
Volume Number	93
Issue Number	2
e-ISSN	09737731
Language	English
Publisher	Springer India
Publisher Date	2014-08-16
Publisher Institution	Indian Academy of Sciences
Publisher Place	India
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	general pedigree missing data Monte Carlo sample parent-of-origin effects quantitative trait. Life Sciences Microbial Genetics and Genomics Plant Genetics & Genomics Animal Genetics and Genomics Evolutionary Biology
Content Type	Text
Resource Type	Article
Subject	Genetics

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