Bibliography

Bibliography

Alonso A, Domènech E, Julià A, Panés J, García-Sánchez V, Mateu PN, Gutiérrez A, Gomollón F, Mendoza JL, Garcia-Planella E, et al. 2015. Identification of risk loci for Crohn's disease phenotypes using a genome-wide association study. Gastroenterol. 148 (4):794-805 Accessed 4 Oct 2015. doi: 10.1053/j.gastro.2014.12.030.

This study examined 1090 patients diagnosed with Crohn’s Disease against 1296 healthy controls in hopes of identifying new loci associated with the disease. In the process, several genes recently considered to be candidates for gene risk associated with Crohn’s disease were confirmed. This study varied from previous genome-wide association studies in that it took into consideration various clinical phenotypes of Crohn’s disease. The most profound result of the study is that it found 4 different loci significantly associated with different phenotypes of the disease. This indicates that there are genetic reasons as to why Crohn’s is expressed with heterogeneous symptoms.

The vast amount of heterogeneity in the genetic and phenotypic expression of Crohn’s disease would provide an interesting example of how various genes act together and independently in certain diseases. When people think of a disease, the usually imagine a definite set of symptoms that can be associated with each patient. However, in Crohn’s disease a wide set of symptoms are possible and phenotypes vary with factors such as age, gender and genetics. This study shows that there are different genes that can be associated with specific phenotypes expressed in the same disease.

Lars GF, Robert NF, Dwight S, Gonçalo RA, Christine AC, Anand S. 2014. Age-related macular degeneration: genetics and biology coming together. Annu Rev Genomics Hum Genet. 15: 151-171. Accessed 4 Oct 2015. doi: 10.1146/annurev-genom-090413-025610

Age-related macular degeneration is a disease whose genetic implications are just beginning to be understood. In this review, studies are...