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Full-Text Articles in Genetics and Genomics

Genome-Wide Association Study Of Borderline Personality Disorder Reveals Genetic Overlap With Bipolar Disorder, Major Depression And Schizophrenia, S. H. Witt, F. Streit, M. Jungkunz, J. Frank, Ney Alliey Rodriguez Jun 2017

Genome-Wide Association Study Of Borderline Personality Disorder Reveals Genetic Overlap With Bipolar Disorder, Major Depression And Schizophrenia, S. H. Witt, F. Streit, M. Jungkunz, J. Frank, Ney Alliey Rodriguez

School of Medicine Publications

Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case-control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) …


A Principal Component Meta-Analysis On Multiple Anthropometric Traits Identifies Novel Loci For Body Shape, Janina S. Ried, Janina Jeff M., Audrey Y. Chu, Jennifer L. Bragg-Gresham, Jennifer E. Huffman, Tarunveer S. Ahluwalia, Gemma Cadby, Niina Eklund, John Blangero Nov 2016

A Principal Component Meta-Analysis On Multiple Anthropometric Traits Identifies Novel Loci For Body Shape, Janina S. Ried, Janina Jeff M., Audrey Y. Chu, Jennifer L. Bragg-Gresham, Jennifer E. Huffman, Tarunveer S. Ahluwalia, Gemma Cadby, Niina Eklund, John Blangero

School of Medicine Publications

Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. …


Independent Test Assessment Using The Extreme Value Distribution Theory, Marcio Almeida, Lucy Blondell, Juan M. Peralta, Jack W. Kent Jr., Goo Jun, Tanya M. Teslovich, Christian Fuchsberger, Andrew R. Wood, Alisa K. Manning, Thomas D. Dyer, Ravindranath Duggirala, John Blangero Jan 2016

Independent Test Assessment Using The Extreme Value Distribution Theory, Marcio Almeida, Lucy Blondell, Juan M. Peralta, Jack W. Kent Jr., Goo Jun, Tanya M. Teslovich, Christian Fuchsberger, Andrew R. Wood, Alisa K. Manning, Thomas D. Dyer, Ravindranath Duggirala, John Blangero

School of Medicine Publications

The new generation of whole genome sequencing platforms offers great possibilities and challenges for dissecting the genetic basis of complex traits. With a very high number of sequence variants, a naïve multiple hypothesis threshold correction hinders the identification of reliable associations by the overreduction of statistical power. In this report, we examine 2 alternative approaches to improve the statistical power of a whole genome association study to detect reliable genetic associations. The approaches were tested using the Genetic Analysis Workshop 19 (GAW19) whole genome sequencing data. The first tested method estimates the real number of effective independent tests actually being …