Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 2 of 2
Full-Text Articles in Medicine and Health Sciences
Colorectal Cancer-Associated Genes Are Associated With Tooth Agenesis And May Have A Role In Tooth Development, Meredith A. Williams, Cláudia Cristina Biguetti, Miguel Romero-Bustillos, Kanwal Maheshwari, Nuriye Dinckan, Franco Cavalla, Xiaoming Liu, Renato Silva, Sercan Akyalcin, Z. Oya Uyguner
Colorectal Cancer-Associated Genes Are Associated With Tooth Agenesis And May Have A Role In Tooth Development, Meredith A. Williams, Cláudia Cristina Biguetti, Miguel Romero-Bustillos, Kanwal Maheshwari, Nuriye Dinckan, Franco Cavalla, Xiaoming Liu, Renato Silva, Sercan Akyalcin, Z. Oya Uyguner
School of Podiatric Medicine Publications and Presentations
Previously reported co-occurrence of colorectal cancer (CRC) and tooth agenesis (TA) and the overlap in disease-associated gene variants suggest involvement of similar molecular pathways. Here, we took an unbiased approach and tested genome-wide significant CRC-associated variants for association with isolated TA. Thirty single nucleotide variants (SNVs) in CRC-predisposing genes/loci were genotyped in a discovery dataset composed of 440 individuals with and without isolated TA. Genome-wide significant associations were found between TA and ATF1 rs11169552 (P = 4.36 × 10−10) and DUSP10 rs6687758 (P = 1.25 × 10−9), and positive association found with CASC8 rs10505477 (P = 8.2 × 10−5). …
Deep Coverage Whole Genome Sequences And Plasma Lipoprotein(A) In Individuals Of European And African Ancestries, Seyedeh M. Zekavat, Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan Bloom, Timothy Poterba, Laura Almasy, John Blangero, Joanne E. Curran, Ravindranath Duggirala, Juan M. Peralta, Harald H. H. Goring
Deep Coverage Whole Genome Sequences And Plasma Lipoprotein(A) In Individuals Of European And African Ancestries, Seyedeh M. Zekavat, Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan Bloom, Timothy Poterba, Laura Almasy, John Blangero, Joanne E. Curran, Ravindranath Duggirala, Juan M. Peralta, Harald H. H. Goring
School of Medicine Publications and Presentations
Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use deep-coverage whole genome sequencing in 8392 individuals of European and African ancestry to discover and interpret both single-nucleotide variants and copy number (CN) variation associated with Lp(a). We observe that genetic determinants between Europeans and Africans have several unique determinants. The common variant rs12740374 associated with Lp(a) cholesterol is an eQTL for SORT1 and independent of LDL cholesterol. Observed associations of aggregates of rare non-coding …