Genetic association studies: design, analysis and interpretation

CM Lewis - Briefings in bioinformatics, 2002 - academic.oup.com
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 …

A polygenic approach to the study of polygenic diseases

D Lvovs, OO Favorova, AV Favorov - Acta Naturae (англоязычная …, 2012 - cyberleninka.ru
Polygenic diseases are caused by the joint contribution of a number of independently acting
or interacting polymorphic genes; the individual contribution of each gene may be small or …

[图书][B] Permutation tests for complex data: theory, applications and software

F Pesarin, L Salmaso - 2010 - books.google.com
Complex multivariate testing problems are frequently encountered in many scientific
disciplines, such as engineering, medicine and the social sciences. As a result, modern …

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

DR Williams, R de Silva, DC Paviour, A Pittman… - Brain, 2005 - academic.oup.com
The clinical diagnosis of progressive supranuclear palsy (PSP) relies on the identification of
characteristic signs and symptoms. A proportion of pathologically diagnosed cases do not …

Association of human aging with a functional variant of klotho

DE Arking, A Krebsova, M Macek Sr… - Proceedings of the …, 2002 - National Acad Sciences
Mice deficient in Klotho gene expression exhibit a syndrome resembling premature human
aging. To determine whether variation in the human KLOTHO locus contributes to survival …

Genomewide search for type 2 diabetes–susceptibility genes in French Whites: evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27 …

N Vionnet, S Dupont, S Gallina, S Francke… - The American Journal of …, 2000 - cell.com
Despite recent advances in the molecular genetics of type 2 diabetes, the majority of
susceptibility genes in humans remain to be identified. We therefore conducted a 10-cM …

A note on the calculation of empirical P values from Monte Carlo procedures

BV North, D Curtis, PC Sham - The American Journal of Human Genetics, 2002 - cell.com
It has become commonplace in the statistical analysis of genetic data to use Monte Carlo
procedures to calculate empirical P values. The reasons for this include the following:(1) …

Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females

J Loughlin, B Dowling, K Chapman… - Proceedings of the …, 2004 - National Acad Sciences
Osteoarthritis (OA) is a leading cause of disability in Western society with multiple risk
factors, including a complex genetic pattern. Identifying loci involved in the heredity of OA …

MDR1 pharmacogenetics: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity

MM Ameyaw, F Regateiro, T Li, X Liu… - Pharmacogenetics …, 2001 - journals.lww.com
Abstract P-glycoprotein (PGP), the product of the multidrug resistance gene (MDR1), acts as
an energy-dependent efflux pump that exports its substrates out of the cell. PGP expression …

The COL5A1 gene and Achilles tendon pathology

GG Mokone, MP Schwellnus… - … journal of medicine & …, 2006 - Wiley Online Library
Purpose: There is an increase in the incidence of Achilles tendon injuries as a result of the
participation in physical activity. It has been suggested that some individuals have a genetic …