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a powerful test of parent-of-origin effects for quantitative traits using haplotypes一个强大的测试使用单parent-of-origin效果的量化特征
A Powerful Test of Parent-of-Origin Effects for
Quantitative Traits Using Haplotypes
1 1 1 2,3 4
Rui Feng *, Yinghua Wu , Gun Ho Jang , Jose M. Ordovas , Donna Arnett
1 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, 2 Nutrition and Genomics Laboratory,
JM-USDA Human Nutrition Research Center on Aging, Tufts University, Boston, Massachusetts, United States of America, 3 Department of Cardiovascular Epidemiology
and Population Genetics, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain, 4 Department of Epidemiology, The University of Alabama at Birmingham,
Birmingham, Alabama, United States of America
Abstract
Imprinting is an epigenetic phenomenon where the same alleles have unequal transcriptions and thus contribute differently
to a trait depending on their parent of origin. This mechanism has been found to affect a variety of human disorders.
Although various methods for testing parent-of-origin effects have been proposed in linkage analysis settings, only a few
are available for association analysis and they are usually restricted to small families and particular study designs. In this
study, we develop a powerful maximum likelihood test to evaluate the parent-of-origin effects of SNPs on quantitative
phenotypes in general family studies. Our method incorporates haplotype distribution to take advantage of inter-marker LD
information in genome-wide association studies (GWAS). Our method also accommodates missing genotypes that often
occur in genetic studies. Our simulation studies with various minor allele frequencies, LD structures, family sizes, and
missing schemes have uniformly shown
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