Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate

TM Zucchero, ME Cooper, BS Maher… - … England Journal of …, 2004 - Mass Medical Soc
Background Cleft lip or palate (or the two in combination) is a common birth defect that
results from a mixture of genetic and environmental factors. We searched for a specific …

Association of vitamin D receptor gene polymorphisms with childhood and adult asthma

BA Raby, R Lazarus, EK Silverman, S Lake… - American journal of …, 2004 - atsjournals.org
Vitamin D receptor (VDR) polymorphisms have been associated with several immune-
related diseases, and VDR and vitamin D itself modulate T cell differentiation. VDR maps to …

Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1)

P Pajukanta, HE Lilja, JS Sinsheimer, RM Cantor… - Nature …, 2004 - nature.com
Familial combined hyperlipidemia (FCHL), characterized by elevated levels of serum total
cholesterol, triglycerides or both,, is observed in about 20% of individuals with premature …

[图书][B] Statistical methods in genetic epidemiology

DC Thomas - 2004 - books.google.com
This well-organized and clearly written text has a unique focus on methods of identifying the
joint effects of genes and environment on disease patterns. It follows the natural sequence of …

Association of vitamin D receptor genetic variants with susceptibility to asthma and atopy

AH Poon, C Laprise, M Lemire, A Montpetit… - American journal of …, 2004 - atsjournals.org
Genome scans for asthma have identified suggestive or significant linkages on 17 different
chromosomes, including chromosome 12, region q13–23, housing the vitamin D receptor …

Association of a glutamate (NMDA) subunit receptor gene (GRIN2B) with obsessive-compulsive disorder: a preliminary study

PD Arnold, DR Rosenberg, E Mundo… - …, 2004 - Springer
Rationale Recent investigation suggests that a reversible glutamatergically mediated
thalamocortical-striatal dysfunction may serve as a reliable pathophysiological and …

Family‐based tests for associating haplotypes with general phenotype data: Application to asthma genetics

S Horvath, X Xu, SL Lake, EK Silverman… - … Official Publication of …, 2004 - Wiley Online Library
We provide a general purpose family‐based testing strategy for associating disease
phenotypes with haplotypes when phase may be ambiguous and parental genotype data …

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35

ML Marazita, JC Murray, AC Lidral… - The American Journal of …, 2004 - cell.com
Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect
with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P …

Role of MTHFR genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia

M Krajinovic, S Lamothe, D Labuda… - Blood, 2004 - ashpublications.org
The central role of methylenetetrahydrofolate reductase (MTHFR) in the folate metabolism
renders MTHFR gene polymorphisms (C677T and A1298C) potential modulators of a variety …

Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene‐gene and gene …

HJ Cordell, BJ Barratt… - Genetic Epidemiology: The …, 2004 - Wiley Online Library
Estimation and testing of genetic effects (genotype relative risks) are often performed
conditionally on parental genotypes, using data from case‐parent trios. This strategy avoids …