Abstract
Cytokines signalling pathway genes are crucial factors of the genetic network underlying the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular condition. An ...influence of the
interleukin (IL)33- IL1 receptor like (IL1RL)1
signalling pathway on the increased risk of several immune-mediated diseases has been described. Accordingly, we assessed whether the
IL33-IL1RL1
pathway represents a novel genetic risk factor for IgAV. Three tag polymorphisms within
IL33
(rs3939286, rs7025417 and rs7044343) and three within
IL1RL1
(rs2310173, rs13015714 and rs2058660), that also were previously associated with several inflammatory diseases, were genotyped in 380 Caucasian IgAV patients and 845 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when
IL33
and
IL1RL1
variants were analysed independently. Likewise, no statistically significant differences were found in
IL33
or
IL1RL1
genotype and allele frequencies when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when
IL33
and
IL1RL1
haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that the
IL33-IL1RL1
signalling pathway does not contribute to the genetic network underlying IgAV.
The present research aimed to determine the main differences in meat and carcass quality traits among turkey genotypes worldwide and describe the clustering patterns through the use of a discriminant ...canonical analysis (DCA). To achieve this goal, a comprehensive meta-analysis of 75 documents discussing carcass and meat characteristics in the turkey species was performed. Meat and carcass attributes of nine different turkey populations were collected and grouped in terms of the following clusters: carcass dressing traits, muscle fiber properties, pH, color-related traits, water-retaining characteristics, texture-related traits, and meat chemical composition. The Bayesian ANOVA analysis reported that the majority of variables statistically differed (p < 0.05), and the multicollinearity analysis revealed the absence of redundancy problems among variables (VIF < 5). The DCA reported that cold carcass weight, slaughter weight, sex-male, carcass/piece weight, and the protein and fat composition of meat were the traits explaining variability among different turkey genotypes (Wilks’ lambda: 0.488, 0.590, 0.905, 0.906, 0.937, and 0.944, respectively). The combination of traits in the first three dimensions explained 94.93% variability among groups. Mahalanobis distances cladogram-grouped populations following a cluster pattern and suggest its applicability as indicative of a turkey genotype’s traceability.
The genetic component of Immunoglobulin-A (IgA) vasculitis is still far to be elucidated. To increase the current knowledge on the genetic component of this vasculitis we performed the first ...genome-wide association study (GWAS) on this condition. 308 IgA vasculitis patients and 1,018 healthy controls from Spain were genotyped by Illumina HumanCore BeadChips. Imputation of GWAS data was performed using the 1000 Genomes Project Phase III dataset as reference panel. After quality control filters and GWAS imputation, 285 patients and 1,006 controls remained in the datasets and were included in further analysis. Additionally, the human leukocyte antigen (HLA) region was comprehensively studied by imputing classical alleles and polymorphic amino acid positions. A linkage disequilibrium block of polymorphisms located in the HLA class II region surpassed the genome-wide level of significance (OR = 0.56, 95% CI = 0.46-0.68). Although no polymorphic amino acid positions were associated at the genome-wide level of significance, P-values of potential relevance were observed for the positions 13 and 11 of HLA-DRB1 (P = 6.67E-05, P = 1.88E-05, respectively). Outside the HLA, potential associations were detected, but none of them were close to the statistical significance. In conclusion, our study suggests that IgA vasculitis is an archetypal HLA class II disease.
Objective
IgA vasculitis (Henoch‐Schönlein) (IgAV), formerly called Henoch‐Schönlein purpura, is the most common vasculitis in children, but it is not rare in adults. Increased familial occurrence ...supports a genetic predisposition to IgAV. In this context, an association with the HLA–DRB1*01 phenotype has been suggested in Caucasian individuals with IgAV. However, data on the potential association of IgAV with HLA–DRB1*01 were based on small case series. We undertook this study to further investigate this potential association by performing HLA–DRB1 genotyping in the largest series of IgAV patients ever assessed for genetic studies in Caucasians.
Methods
We assessed 342 Spanish patients with IgAV as well as 303 controls matched for sex and ethnicity. IgAV patients were required to fulfill the classification criteria described by Michel et al as well as the American College of Rheumatology 1990 classification criteria. HLA–DRB1 alleles were determined using the polymerase chain reaction–sequence‐specific oligonucleotide probe method.
Results
We found a statistically significant increase in the frequency of the HLA–DRB1*01 phenotype in IgAV patients compared with controls (43% versus 27%; P < 0.001) (odds ratio 2.03 95% confidence interval 1.43–2.87). This was due to the increased frequency of the HLA–DRB1*0103 allele in IgAV patients compared with controls (14.3% versus 2.0%; P < 0.001) (odds ratio 8.27 95% confidence interval 3.46–23.9). These results remained statistically significant after Bonferroni adjustment. In contrast, a statistically significant decrease in the frequency of the HLA–DRB1*03 phenotype, due to the presence of the HLA–DRB1*0301 allele, was observed in IgAV patients compared with controls (5.6% versus 18.2%; P < 0.001) (odds ratio 0.26 95% confidence interval 0.14–0.47), even after Bonferroni adjustment. No association of HLA–DRB1 with specific features of the disease was found.
Conclusion
Our study confirms an association of IgAV with HLA–DRB1*01 in Caucasians. There also appears to be a protective effect against the development of IgAV in Caucasians carrying the HLA–DRB1*03 phenotype.
ITGAM–ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA ...production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of these seven polymorphisms when the whole cohort of IgAV patients and those with nephritis were compared to controls. Similar genotype and allele frequencies of all polymorphisms were disclosed when IgAV patients were stratified according to the age at disease onset or the presence/absence of gastrointestinal or renal manifestations. Likewise, no ITGAM–ITGAX and DEFA haplotype differences were observed when the whole cohort of IgAV patients, along with those with nephritis and controls, as well as IgAV patients, stratified according to the abovementioned clinical characteristics, were compared. Our results suggest that mucosal immune defence polymorphisms do not represent novel genetic risk factors for IgAV pathogenesis.
El manejo de los suelos vitícolas andaluces ha consistido tradicionalmente en un laboreo muy intensivo con varios pases anuales. Esta aplicación continuada de labores provoca importantes problemas de ...erosión que se agravan en zonas con pendiente y con suelos de textura arcillosa. El impacto negativo que se genera tanto a nivel ambiental como económico, ha impulsado la búsqueda de alternativas al laboreo tradicional, como es la implantación de cubiertas vegetales.
En este trabajo se presentan los resultados obtenidos en los años 2015 a 2017. Se ha realizado en la finca experimental del IFAPA Centro de Cabra (Córdoba, España), en una parcela de la variedad Pedro Ximénez cultivada en ecológico. Se han evaluado tres tratamientos de manejo de suelo: Laboreo tradicional (L), cubierta vegetal espontánea (CVE) y cubierta vegetal sembrada (CVS). Se ha comparado los efectos de los distintos tratamientos en parámetros relacionados con la fisiología, rendimiento y calidad de la uva.
El laboreo ha mantenido producciones significativamente superiores que los tratamientos de cubiertas vegetales, en dos de las tres campañas estudiadas El peso de madera de poda también fue significativamente mayor en las tres campañas, mientras que el contenido en sólidos solubles fue menor.
The management of Andalusian vineyard soils has traditionally involved an intense tillage several times per year. This constant operation causes serious problems of erosion which get worse in sloping surfaces and clay soils. Alternatives for the traditional tillage have been promoted due to both the environmental and economic negative impacts, these alternatives include plant covers.
Results obtained between 2015-2017 are presented in this work. The research has been done on the experimental parcel of IFAPA Centro de Cabra (Córdoba, Spain), in Pedro Ximenez ecological vineyard. Three soil management treatments have been assessed: Conventional tillering (L), spontaneous cover crop (CVE) and seeded cover crop (CVS). Different effects of the treatments on parameters related to physiology, yield and grape quality have been compared.
Tillering treatment has had significantly higher productions during two seasons than cover crops treatments. Pruning wood weight was significantly higher too during three seasons while the content of soluble solids was lower.
A study was conducted to determine whether the human leukocyte antigen (HLA) B alleles are implicated in the susceptibility to Henoch-Schönlein purpura (HSP) in the largest series of Caucasian HSP ...patients ever assessed for genetic studies.
The study population was composed of 349 Spanish patients diagnosed with HSP fulfilling the American College of Rheumatology and the Michel et al. classification criteria, and 335 sex and ethnically matched controls. HLA-B phenotypes were determined by sequencing-based typing (SBT) and analyzed by chi-square or Fisher exact test.
A statistically significant increase of HLA-B*41:02 allele in HSP patients when compared with controls was found (8.3% versus 1.5% respectively; P = 0.0001; OR (odds ratio) =5.76 2.15-19.3). These results remained statistically significant after adjusting for Bonferroni correction (P = 0.0028). An internal validation also confirmed the susceptibility effect on HSP associated with HLA-B*41:02 (OR = 5.70 1.98-16.44). Since a former study described an association between HLA-DRB1*01:03 and HSP susceptibility, we also evaluated the implication of HLA-B*41:02 independently of HLA-DRB1*01:03. Interestingly, the association remained statistically significant (P = 0.0004, OR = 4.97 1.8-16.9). No HLA-B association with specific HSP clinical features was found.
Our study indicates that HLA-B*41:02 is associated with the susceptibility to HSP in Spanish patients irrespective of HLA-DRB1 status.
CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential ...influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a B-lymphocyte inflammatory condition. Three genetic variants within CD40 (rs1883832, rs1535045, rs4813003) and BLK (rs2254546, rs2736340, rs2618476) as well as two BANK1 polymorphisms (rs10516487, rs3733197), previously associated with inflammatory diseases, were genotyped in 382 Caucasian patients with IgAV and 955 sex- and ethnically matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of CD40, BLK and BANK1 when IgAV patients and healthy controls were compared. Similar results were found when CD40, BLK and BANK1 genotypes or alleles frequencies were compared between patients with IgAV stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. Moreover, no CD40, BLK and BANK1 haplotype differences were disclosed between patients with IgAV and healthy controls and between patients with IgAV stratified according to the clinical characteristics mentioned above. Our findings indicate that CD40, BLK and BANK1 do not contribute to the genetic background of IgAV.
Abstract
BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally,
BAFF, APRIL
and
BAFFR
polymorphisms were associated with immune-mediated ...conditions, being
BAFF
GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether
BAFF, APRIL
and
BAFFR
represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition.
BAFF
rs374039502, which colocalizes with
BAFF
GCTGT>A, and two tag variants within
APRIL
(rs11552708 and rs6608) and
BAFFR
(rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when
BAFF, APRIL
and
BAFFR
variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of
BAFF, APRIL
or
BAFFR
when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when
APRIL
and
BAFFR
haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that
BAFF, APRIL
and
BAFFR
do not contribute to the genetic network underlying IgAV.
To determine whether the PTPN22 (protein tyrosine phosphatase nonreceptor 22)/CSK (c-src tyrosine kinase) pathway is implicated in the susceptibility and clinical heterogeneity of Henoch-Schönlein ...purpura (HSP) in the largest series of Caucasian HSP patients ever assessed for genetic studies.
A set of 329 Spanish patients diagnosed with HSP fulfilling the American College of Rheumatology and the Michel et al. classification criteria and 515 sex and ethnically matched controls were recruited in this study. Two well-known CSK (CSK rs34933034 and CSK rs1378942) and two functional PTPN22 (PTPN22 rs2476601 (R620W) and PTPN22 rs33996649 (R263Q)) polymorphisms, previously associated with autoimmunity, were genotyped with TaqMan single nucleotide polymorphism (SNP) genotyping assays.
No significant differences in the genotype and allele frequencies between HSP patients and controls were observed when the CSK rs34933034, CSK rs1378942, PTPN22 rs2476601 (R620W) and PTPN22 rs33996649 (R263Q) polymorphisms were analyzed independently. In keeping with this observation, no significant differences were found when we assessed these polymorphisms combined conforming haplotypes. In addition, there were no differences in the allele or genotype frequencies when HSP patients were stratified according the age at disease onset, sex, presence of arthralgia/arthritis, nephritis or gastrointestinal manifestations.
Our results do not support association between PTPN22/CSK and HSP.
PDF
