Thakur, Nanamika Kupani, Manu Mannan, Rashim Pruthi, Archna Mehrotra, Sanjana
Published in
BMC Medical Genomics
BackgroundVariants in CDKN2B/CDKN2B-AS1 have been reported to modulate glaucoma risk in several GWAS across different populations. CDKN2B/CDKN2A encodes tumor suppressor proteins p16INK4A/p15INK4B which influences cell proliferation/senescence in RGCs, the degeneration of which is a risk factor for glaucoma. CDKN2B-AS1 codes a long non-coding RNA i...
Kherrour, Warda Kalicanin, Dean Brčić, Luka Hambaba, Leila Yahia, Mouloud Benbia, Souheyla Perica, Vesna Boraska
Published in
Egyptian Journal of Medical Human Genetics
BackgroundHashimoto’s thyroiditis (HT) is a chronic autoimmune disease of the thyroid gland and is also the main cause of hypothyroidism. A recent genome-wide association study (GWAS) suggested an association of three novel genetic variants with HT in a population of Caucasian origin (Croatian). A case-control study was performed to investigate the...
Zhang, Qianqian Cai, Zexi Lhomme, Marie Sahana, Goutam Lesnik, Philippe Guerin, Maryse Fredholm, Merete Karlskov-Mortensen, Peter
Published in
Scientific Reports
Dyslipidemia is the primary cause of cardiovascular disease, which is a serious human health problem in large parts of the world. Therefore, it is important to understand the genetic and molecular mechanisms that regulate blood levels of cholesterol and other lipids. Discovery of genetic elements in the regulatory machinery is often based on genome...
Ballester, Maria Ramayo-Caldas, Yuliaxis González-Rodríguez, Olga Pascual, Mariam Reixach, Josep Díaz, Marta Blanc, Fany López-Serrano, Sergi Tibau, Joan Quintanilla, Raquel
...
Published in
Scientific Reports
The inclusion of health-related traits, or functionally associated genetic markers, in pig breeding programs could contribute to produce more robust and disease resistant animals. The aim of the present work was to study the genetic determinism and genomic regions associated to global immunocompetence and health in a Duroc pig population. For this ...
O’Brien, Mitchell J. Beijerink, Niek J. Sansom, Mandy Thornton, Sarah W. Chew, Tracy Wade, Claire M.
Published in
Scientific Reports
Inborn errors of metabolism are genetic conditions that can disrupt intermediary metabolic pathways and cause defective absorption and metabolism of dietary nutrients. In an Australian Kelpie breeding population, 17 puppies presented with intestinal lipid malabsorption. Juvenile dogs exhibited stunted postnatal growth, steatorrhea, abdominal disten...
Ma, Kevin C. Mortimer, Tatum D. Duckett, Marissa A. Hicks, Allison L. Wheeler, Nicole E. Sánchez-Busó, Leonor Grad, Yonatan H.
Published in
Nature Communications
The mechanisms underlying resistance of Neisseria gonorrhoeae to the antibiotic azithromycin are incompletely understood. Here, Ma et al. conduct a conditional genome-wide association study to identify new resistance mutations and experimentally confirm that a mutation in ribosomal protein L4 confers increased resistance.
Surakka, Ida Fritsche, Lars G. Zhou, Wei Backman, Joshua Kosmicki, Jack A. Lu, Haocheng Brumpton, Ben Nielsen, Jonas B. Gabrielsen, Maiken E. Skogholt, Anne Heidi
...
Published in
Nature Communications
Bone mineral density (BMD) is associated with fracture risk and many genetic loci with small effect sizes have been discovered by genome-wide association studies (GWAS). Here, the authors discover a large-effect rare loss-of-function genetic variant for BMD in the MEPE gene in the Norwegian HUNT study which replicates in the UK Biobank.
Baison, J. Zhou, Linghua Forsberg, Nils Mörling, Tommy Grahn, Thomas Olsson, Lars Karlsson, Bo Wu, Harry X. Mellerowicz, Ewa J. Lundqvist, Sven-Olof
...
Published in
Scientific Reports
Through the use of genome-wide association studies (GWAS) mapping it is possible to establish the genetic basis of phenotypic trait variation. Our GWAS study presents the first such effort in Norway spruce (Picea abies (L). Karst.) for the traits related to wood tracheid characteristics. The study employed an exome capture genotyping approach that ...
Roy, Nikita Barry, Robert J. Fernandez, Francesca E. Lim, Chai K. Al-Dabbas, Mahmoud A. Karamacoska, Diana Broyd, Samantha J. Solowij, Nadia Chiu, Christine L. Steiner, Genevieve Z.
...
Published in
Scientific Reports
The brain-derived neurotrophic factor (BDNF) protein is essential for neuronal development. Val66Met (rs6265) is a functional polymorphism at codon 66 of the BDNF gene that affects neuroplasticity and has been associated with cognition, brain structure and function. The aim of this study was to clarify the relationship between BDNF Val66Met polymor...
Panach, Layla Pertusa, Clara Martínez-Rojas, Beatriz Acebrón, Álvaro Mifsut, Damián Tarín, Juan J. Cano, Antonio García-Pérez, Miguel Ángel
Published in
Scientific Reports
To identify new candidate genes in osteoporosis, mainly involved in epigenetic mechanisms, we compared whole gene-expression in osteoblasts (OBs) obtained from women undergoing hip replacement surgery due to fragility fracture and severe osteoarthritis. Then, we analyzed the association of several SNPs with BMD in 1028 women. Microarray analysis yi...
