Genetic analysis of complex diseases demands novel analytical methods to interpret data collected on thousands of variables by genome-wide association studies. The complexity of such analysis is multiplied when one has to consider interaction effects, be they among the genetic variations (G x G) or with environment risk factors (G x E). Several statistical learning methods seem quite promising ...

Recent groundbreaking work in genetics has identified thousands of small-effect genetic variants throughout the genome that are associated with almost all major diseases. These genome-wide association studies (GWAS) are often proposed as a source of future medical breakthroughs. However, with several notable exceptions, the journey from a small-effect genetic variant to a functional drug has pr...

BACKGROUND Schizophrenia (SCZ) is a very heterogeneous disease that affects approximately 1% of the general population. Recently, the genetic complexity thought to underlie this condition was further supported by three independent studies that identified an increased number of damaging de novo mutations DNM in different SCZ probands. While these three reports support the implication of DNM in t...

This paper considers the problem of optimal false discovery rate control when the test statistics are dependent. An optimal joint oracle procedure, which minimizes the false non-discovery rate subject to a constraint on the false discovery rate is developed. A data-driven marginal plug-in procedure is then proposed to approximate the optimal joint procedure for multivariate normal data. It is s...

In case-control genetic association studies, cases are subjects with the disease and controls are subjects without the disease. At the time of case-control data collection, information about secondary phenotypes is also collected. In addition to studies of primary diseases, there has been some interest in studying genetic variants associated with secondary phenotypes. In genetic association stu...

objective: basal cell carcinoma (bcc) is the most common human malignant neoplasm which is more frequent in white individuals. ptch and p53 are two major tumor suppressor genes which play important roles in pathogenesis of bcc. ptch is a twelve-pass transmembrane protein. it is an essential component of the sonic hedgehog signaling pathway that plays as a receiving receptor for members of the h...

the rs2476601 (r620w, c1858t) polymorphism in ptpn22 gene has been repeatedly reported to be associated with rheumatoid arthritis (ra). the rs 2476601 is widely suggested for predictive testing and risk assessment for ra. the aim of this study was to test the possible association of this snp with ra in iranian population.a total of 872 samples (405 confirmed ra patients and 467 healthy controls...

Genetic association studies have identified 2 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, we performed a meta-analysis of > 5 million genetic variants in 2 ,399 cases and 95,464 controls from populations of European, African, Japanese and Latino ancestry, followed by...

Drug-dependence disorders (we focus here on cocaine, opioid, and nicotine dependence) are genetically influenced. Risk genes have been located based primarily on genetic linkage studies, and identified primarily based on genetic association studies. In this article we review salient results from linkage, association, and genome-wide association study methodologies, and discuss future prospects ...