Genomewide association studies and common disease—realizing clinical utility
- SourceAvailable from: Krina T Zondervan
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- "Consequently, for common diseases, individual variants have little diagnostic value (Fugger et al., 2012). To date, even combining results from many variants has provided limited value because only a proportion of causative loci have been identified and there are substantial environmental effects that contribute to most common diseases. "
ABSTRACT: Genetic factors contribute to risk for many common diseases affecting reproduction and fertility. In recent years, methods for genome-wide association studies (GWAS) have revolutionised gene discovery for common traits and diseases. Results of GWAS are documented in the Catalog of Published Genome-Wide Association Studies at the National Human Genome Research Institute and report over 70 publications for 32 traits and diseases associated with reproduction. These include endometriosis, uterine fibroids, age at menarche and age at menopause. Results that pass appropriate stringent levels of significance are generally well replicated in independent studies. Examples of genetic variation affecting twinning rate, infertility, endometriosis and age at menarche demonstrate that the spectrum of disease related variants for reproductive traits is similar to most other common diseases. GWAS "hits" provide novel insights into biological pathways and the translational value of these studies lies in discovery of novel gene targets for biomarkers, drug development and greater understanding of environmental factors contributing to disease risk. Results also show genetic data can help define sub-types of disease and co-morbidity with other traits and diseases. To date, many studies on reproductive traits have used relatively small samples. Future genetic marker studies in large samples with detailed phenotypic and clinical information will yield new insights into disease risk, disease classification and co-morbidity for many diseases associated with reproduction and infertility.Molecular Human Reproduction 08/2013; 20(1). DOI:10.1093/molehr/gat058 · 3.48 Impact Factor
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ABSTRACT: Lung cancer is one of the most common and deadliest cancers in the world. The major socio-environmental risk factor involved in the development of lung cancer is cigarette smoking. Additionally, there are multiple genetic factors which may also play a role in lung cancer risk. Early work focused on the presence of relatively prevalent but low-penetrance alterations in candidate leans leading to increased risk of lung cancer. Development of new technologies such as genomic profiling and genome-wide association studies (GWAS) has been helpful in the detection of new genetic variants likely involved in lung cancer risk. In this review, we discuss the role of multiple genetic variants and review their putative role in the risk of lung cancer. Identifying genetic biomarkers and and patterns of genetic risk may be useful in the earlier detection and treatment of lung cancer patients.Carcinogenesis 01/2013; DOI:10.1093/carcin/bgt016 · 5.27 Impact Factor
- Genome Medicine 01/2013; 5(1):10. DOI:10.1186/gm414 · 4.94 Impact Factor