scholarly journals Genetic Factors in Nonsmokers with Age-Related Macular Degeneration Revealed Through Genome-Wide Gene-Environment Interaction Analysis

2013 ◽  
Vol 77 (3) ◽  
pp. 215-231 ◽  
Author(s):  
Adam C. Naj ◽  
William K. Scott ◽  
Monique D. Courtenay ◽  
William H. Cade ◽  
Stephen G. Schwartz ◽  
...  
2018 ◽  
Vol 2018 ◽  
pp. 1-13 ◽  
Author(s):  
Andrea Maugeri ◽  
Martina Barchitta ◽  
Maria Grazia Mazzone ◽  
Francesco Giuliano ◽  
Antonella Agodi

Age-related macular degeneration (AMD) is the most common cause of visual loss in developed countries, with a significant economic and social burden on public health. Although genome-wide and gene-candidate studies have been enabled to identify genetic variants in the complement system associated with AMD pathogenesis, the effect of gene-environment interaction is still under debate. In this review we provide an overview of the role of complement system and its genetic variants in AMD, summarizing the consequences of the interaction between genetic and environmental risk factors on AMD onset, progression, and therapeutic response. Finally, we discuss the perspectives of current evidence in the field of genomics driven personalized medicine and public health.


2012 ◽  
Vol 33 (8) ◽  
pp. 1531-1537 ◽  
Author(s):  
Sheng Wei ◽  
Li-E Wang ◽  
Michelle K. McHugh ◽  
Younghun Han ◽  
Momiao Xiong ◽  
...  

Author(s):  
Ren Zhou ◽  
Mengying Wang ◽  
Wenyong Li ◽  
Siyue Wang ◽  
Hongchen Zheng ◽  
...  

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of common birth defects in China, with genetic and environmental components contributing to the etiology. Genome wide association studies (GWASs) have identified SPRY1 and SPRY2 to be associated with NSCL/P among Chinese populations. This study aimed to further explore potential genetic effect and gene—environment interaction among SPRY genes based on haplotype analysis, using 806 Chinese case—parent NSCL/P trios drawn from an international consortium which conducted a genome-wide association study. After the process of quality control, 190 single nucleotide polymorphisms (SNPs) of SPRY genes were included for analyses. Haplotype and haplotype—environment interaction analyses were conducted in Population-Based Association Test (PBAT) software. A 2-SNP haplotype and three 3-SNP haplotypes showed a significant association with the risk of NSCL/P after Bonferroni correction (corrected significance level = 2.6 × 10−4). Moreover, haplotype—environment interaction analysis identified these haplotypes respectively showing statistically significant interactions with maternal multivitamin supplementation or maternal environmental tobacco smoke. This study showed SPRY2 to be associated with NSCL/P among the Chinese population through not only gene effects, but also a gene—environment interaction, highlighting the importance of considering environmental exposures in the genetic etiological study of NSCL/P.


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