Recently genetic studies have been revolutionized by next generation sequencing (NGS) technology, and it is expected that the use of this technology will largely eliminate defects in the methods of association studies. The NGS technology is becoming the premier tool in genetics. However, at the moment the use of this method is limited especially in the livestock due to high cost and computation...

objective: low density lipo-protein receptor- related protein (lrp) is the most important cholesterol receptor in neurons. it serves as a receptor for apoe protein which is the most important risk factor for alzheimer’s disease. lrp also contributes to the ligation of lipoproteins with apoe in neurons. association between lrp c766t and alzheimer’s disease in iranian patients with late onset alz...

The design and interpretation of genetic association studies depends on the relationship between the genotyped variants and the underlying functional variant, often parameterized as the squared correlation or r(2) measure of linkage disequilibrium between two loci. While it has long been recognized that placing a constraint on ther(2) between two loci also places a constraint on the difference ...

Hundreds of genetic association studies on asthma-related phenotypes have been conducted in different populations. To date, variants in 64 genes have been reported to be associated with asthma or related traits in at least one study. Of these, 33 associations were replicated in a second study, 9 associations were not replicated either in a second study or a second sample in the same study, and ...

Confounding due to population substructure is always a concern in genetic association studies. Although methods have been proposed to adjust for population stratification in the context of common variation, it is unclear how well these approaches will work when interrogating rare variation. Family-based association tests can be constructed that are robust to population stratification. For examp...

The Human Genome Variation database of Genotype to Phenotype information (HGVbaseG2P) is a new central database for summary-level findings produced by human genetic association studies, both large and small. Such a database is needed so that researchers have an easy way to access all the available association study data relevant to their genes, genome regions or diseases of interest. Such a dep...

Secondary trait genetic association provides insight into the genetic architecture of disease etiology but requires caution in estimation. Ignoring case-control sampling may introduce bias into secondary trait association. In this paper, we compare the efficiency and robustness of various inverse probability weighted (IPW) estimators and maximum likelihood (ML) estimators. ML methods have been ...

This paper provides a review of the design and analysis of genetic association studies. In case control studies, the different contingency tables and their relationships to the underlying genetic model are defined. Population stratification is discussed, with suggested methods to identify and correct for the effect. The transmission disequilibrium test is provided as an alternative family-based...

Most, if not all, human phenotypes exhibit a temporal, dosage-dependent, or age effect. Despite this fact, it is rare that data are collected over time or in sequence in relevant studies of the determinants of these phenotypes. The costs and organizational sophistication necessary to collect repeated measurements or longitudinal data for a given phenotype are clearly impediments to this, but gr...

Multiple comparisons or multiple testing has been viewed as a thorny issue in genetic association studies aiming to detect disease-associated genetic variants from a large number of genotyped variants. We alleviate the problem of multiple comparisons by proposing a hierarchical modeling approach that is fundamentally different from the existing methods. The proposed hierarchical models simultan...