POLYMORPHISMS OF THE COL9A2, AOAH AND FRZB GENES IN THE HORSE GENOME AND THEIR ASSOCIATION WITH THE OCCURRENCE OF OSTEOCHONDROSIS
ANNALS OF ANIMAL SCIENCE
Authors: Wypchlo, Maria; Korwin-Kossakowska, Agnieszka; Bereznowski, Andrzej; Hecold, Mateusz; Lewczuk, Dorota
Abstract
The aim of the study was to evaluate the chosen polymorphisms of the COL9A2, AOAH and FRZB genes and find their potential effect on the occurrence of osteochondrosis in Polish sport horses population. During two successive years, all 198 performance tested horses were checked for osteochondrosis. The health status of the horses was assessed based on 10 x-ray images of three joints: fetlock, hock and stifle, and scored on a 0-3 scale. The methodology of analysis of selected candidate genes using the PCR-RFLP technique was developed. The analysis of variance was performed to evaluate significance of the effect of the COL9A2, AOAH and FRZB genotype on the occurrence of osteochondrosis in individual joints. Fixed effects of breed, gender and training centre were taken into account in the analysis. The results showed a significant influence (P <= 0.05) of the COL9A2 genotypes on the occurrence of osteochondrosis in fetlock and hock joints. Polymorphism of this gene, even not proved a causal mutation, appears to have effect on symptoms of the disease. In genes AOAH and FRZB there was no significant effect for investigated SNPs. Further analysis of the discussed genes/polymorphisms seems to be important.
Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles
NATURE GENETICS
Authors: Fairfax, Benjamin P.; Makino, Seiko; Radhakrishnan, Jayachandran; Plant, Katharine; Leslie, Stephen; Dilthey, Alexander; Ellis, Peter; Langford, Cordelia; Vannberg, Fredrik O.; Knight, Julian C.
Abstract
Trans-acting genetic variants have a substantial, albeit poorly characterized, role in the heritable determination of gene expression. Using paired purified primary monocytes and B cells, we identify new predominantly cell type-specific cis and trans expression quantitative trait loci (eQTLs), including multi-locus trans associations to LYZ and KLF4 in monocytes and B cells, respectively. Additionally, we observe a B cell-specific trans association of rs11171739 at 12q13.2, a known autoimmune disease locus, with IP6K2 (P = 5.8 x 10(-15)), PRIC285 (P = 3.0 x 10(-10)) and an upstream region of CDKN1A (P = 2 x 10(-52)), suggesting roles for cell cycle regulation and peroxisome proliferator-activated receptor gamma (PPAR gamma) signaling in autoimmune pathogenesis. We also find that specific human leukocyte antigen (HLA) alleles form trans associations with the expression of AOAH and ARHGAP24 in monocytes but not in B cells. In summary, we show that mapping gene expression in defined primary cell populations identifies new cell type-specific trans-regulated networks and provides insights into the genetic basis of disease susceptibility.