Accuracy of patient-reported height loss and risk factors for height loss among postmenopausal women.

Background: Since loss of height may indicate vertebral fracture, the accuracy of the information on height is relevant for clinical practice. We undertook this study to compare reported and measured loss of height among post-menopausal women in a primary care setting. We also analyzed the determinants of this height loss.

International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.

Background: The International Lung Cancer Consortium was established in 2004. To clarify the role of DNA repair genes in lung cancer susceptibility, we conducted a pooled analysis of genetic variants in DNA repair pathways, whose associations have been investigated by at least 3 individual studies.

Methods: Data from 14 studies were pooled for 18 sequence variants in 12 DNA repair genes, including APEX1, OGG1, XRCC1, XRCC2, XRCC3, ERCC1, XPD, XPF, XPG, XPA, MGMT, and TP53.

Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition.

A key fatty acid synthesis enzyme, acetyl-CoA carboxylase alpha (ACC-alpha), has been shown to be highly expressed in human breast cancer and other tumor types and also to specifically interact with the protein coded by one of two major breast cancer susceptibility genes BRCA1. We used a comprehensive haplotype analysis to examine the contribution of the ACC-alpha common genetic variation (allele frequency >5%) to breast cancer in a case-control study (1,588 cases/2,600 controls) nested within the European Prospective Investigation into Cancer and Nutrition. We identified 21 haplotype-tagging polymorphisms efficiently capturing common variation within 325 kb of ACC-alpha and surrounding sequences using genotype data from the HapMap project and our resequencing data.

T.I.M.S: TaqMan Information Management System, tools to organize data flow in a genotyping laboratory.

Background: Single Nucleotide Polymorphism (SNP) genotyping is a major activity in biomedical research. The Taqman technology is one of the most commonly used approaches. It produces large amounts of data that are difficult to process by hand.

A database of single-nucleotide polymorphisms and a genotyping microarray for genetic epidemiology of lung cancer.

The authors set up a database of 105 genes potentially related to lung cancer susceptibility and 464 of their polymorphisms. The database is based on extensive literature searches, and includes genes likely to influence the internal dose of genotoxic compounds that reach the lungs, following exposure to environmental insults, such as tobacco smoke. The authors selected a subset of 250 single-nucleotide polymorphisms with appreciable frequency in at least one major ethnic group and/or a clear functional role, which represent the best candidates as lung cancer risk factors.