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Assessing The Association Of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses, Anthony P. Khawaja, Jessica N. Cooke Bailey, Jae Hee Kang, R. Rand Allingham, Michael A. Hauser, Murray Brilliant, Donald L. Budenz, William G. Christen, John Fingert, Douglas Gaasterland, Terry Gaasterland, Peter Kraft, Richard K. Lee, Paul R. Lichter, Yutao Liu, Felipe Medeiros, Syoko E. Moroi, Julia E. Richards, Tony Realini, Robert Ritch, Joel S. Schuman, William K. Scott, Kuldev Singh, Arthur J. Sit, Douglas Vollrath, Gadi Wollstein, Donald J. Zack, Kang Zhang, Margaret Pericak-Vance, Robert N. Weinreb, Jonathan L. Haines, Louis R. Pasquale, Janey L. Wiggs

Faculty & Staff Scholarship

PURPOSE. Recent studies indicate that mitochondrial proteins may contribute to the pathogenesis of primary open-angle glaucoma (POAG). In this study, we examined the association between POAG and common variations in gene-encoding mitochondrial proteins. METHODS. We examined genetic data from 3430 POAG cases and 3108 controls derived from the combination of the GLAUGEN and NEIGHBOR studies. We constructed biological-system coherent mitochondrial nuclear-encoded protein gene-sets by intersecting the MitoCarta database with the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. We examined the mitochondrial gene-sets for association with POAG and with normal-tension glaucoma (NTG) and high-tension glaucoma (HTG) subsets using Pathway Analysis …

Genome-Wide Association Scan Of Dental Caries In The Permanent Dentition, Xiaojing Wang, John R. Schaffer, Zhen Zeng, Ferdouse Begum, Alexandre R. Vieira, Jacqueline Noel, Ida Anjomshoaa, Karen T. Cuenco, Myoung-Keun Lee, James Beck, Eric Boerwinkle, Marilyn C. Cornelis, Frank B. Hu, David R. Crosslin, Cathy C. Laurie, Sarah C. Nelson, Kimberly F. Doheny, Elizabeth W. Pugh, Deborah E. Polk, Robert J. Weyant, Richard Crout, Daniel W. Mcneil, Daniel E. Weeks, Eleanor Feingold, Mary L. Marazita

Faculty & Staff Scholarship

Background

Over 90% of adults aged 20 years or older with permanent teeth have suffered from dental caries leading to pain, infection, or even tooth loss. Although caries prevalence has decreased over the past decade, there are still about 23% of dentate adults who have untreated carious lesions in the US. Dental caries is a complex disorder affected by both individual susceptibility and environmental factors. Approximately 35-55% of caries phenotypic variation in the permanent dentition is attributable to genes, though few specific caries genes have been identified. Therefore, we conducted the first genome-wide association study (GWAS) to identify genes affecting …

Effects Of Smoking And Genotype On The Psr Index Of Periodontal Disease In Adults Aged 18–49, Deborah E. Polk, Xiaojing Wang, Eleanor Feingold, John R. Shaffer, Daniel E. Weeks, Robert J. Weyant, Richard J. Crout, Daniel W. Mcneil, Mary L. Marazita

Faculty & Staff Scholarship

Studies have found both genetic and environmental influences on chronic periodontitis. The purpose of this study was to examine the relationships among previously identified genetic variants, smoking status, and two periodontal disease-related phenotypes (PSR1 and PSR2) in 625 Caucasian adults (aged 18–49 years). The PSR Index was used to classify participants as affected or unaffected under the PSR1 and PSR2 phenotype definitions. Using logistic regression, we found that the form of the relationship varied by single nucleotide polymorphism (SNP): For rs10457525 and rs12630931, the effects of smoking and genotype on risk were additive; whereas for rs10457526 and rs733048, smoking was …

On Multi-View Learning With Additive Models, Mark Culp, George Michailidis, Kjell Johnson

Faculty & Staff Scholarship

No abstract provided.

Frequent Alterations Of Hmlh1 And Rbsp3/Hya22 At Chromosomal 3p22.3 Region In Early And Late-Onset Breast Carcinoma: Clinical And Prognostic Significance, Satyabrata Sinha, Ratnesh K. Singh, Neyaz Alam, Anup Roy, Susanta Roychoudhury, Chinmay Kumar Panda

Faculty & Staff Scholarship

Young age can be an independent prognostic factor for adverse prognosis in women with breast carcinoma (BC). In younger women, BC exhibited more aggressive pathological features than older women, indicating differences in biology. Frequent alterations in chromosomal (chr.) 3p22.3 in different malignancies indicated the existence of multiple candidate tumor suppressor genes (TSG) in this region, yet its association with BC remains unclear. In an effort to understand the differences in molecular pathogenesis in two age groups of BC, detailed analysis of alterations at chr.3p22.3 region was carried out in 47 early onset (group-A: 40 years) BC samples. Deletion mapping of …

Genome Structure And Emerging Evidence Of An Incipient Sex Chromosome In Populus, T. Yin, S. P. Difazio, L. E. Gunter, X. Zhang

Faculty & Staff Scholarship

The genus Populus consists of dioecious woody species with largely unknown genetic mechanisms for gender determination. We have discovered genetic and genomic features in the peritelomeric region of chromosome XIX that suggest this region of the Populus genome is in the process of developing characteristics of a sex chromosome. We have identified a gender-associated locus that consistently maps to this region. Furthermore, comparison of genetic maps across multiple Populus families reveals consistently distorted segregation within this region. We have intensively characterized this region using an F1 interspecific cross involving the female genotype that was used for genome sequencing. This region …