Association of candidate gene polymorphisms with chronic kidney disease : Results of a case-control analysis in the NEFRONA cohort

Chronic kidney disease (CKD) is a major risk factor for end-stage renal disease, cardiovascular disease and premature death. Despite classical clinical risk factors for CKD and some genetic risk factors have been identified, the residual risk observed in prediction models is still high. Therefore, new risk factors need to be identified in order to better predict the risk of CKD in the population. Here, we analyzed the genetic association of 79 SNPs of proteins associated with mineral metabolism disturbances with CKD in a cohort that includes 2,445 CKD cases and 559 controls. Genotyping was performed with matrix assisted laser desorption ionization-time of flight mass spectrometry. We used logistic regression models considering different genetic inheritance models to assess the association of the SNPs with the prevalence of CKD, adjusting for known risk factors. Eight SNPs (rs1126616, rs35068180, rs2238135, rs1800247, rs385564, rs4236, rs2248359, and rs1564858) were associated with CKD even after adjusting by sex, age and race. A model containing five of these SNPs (rs1126616, rs35068180, rs1800247, rs4236, and rs2248359), diabetes and hypertension showed better performance than models considering only clinical risk factors, significantly increasing the area under the curve of the model without polymorphisms. Furthermore, one of the SNPs (the rs2248359) showed an interaction with hypertension, being the risk genotype affecting only hypertensive patients. We conclude that 5 SNPs related to proteins implicated in mineral metabolism disturbances (Osteopontin, osteocalcin, matrix gla protein, matrix metalloprotease 3 and 24 hydroxylase) are associated to an increased risk of suffering CKD

Association of a single nucleotide polymorphism combination pattern of the Klotho gene with non-cardiovascular death in patients with chronic kidney disease

Chronic kidney disease (CKD) is associated with an elevated risk of all-cause mortality, with cardiovascular death being extensively investigated. However, non-cardiovascular mortality represents the biggest percentage, showing an evident increase in recent years. Klotho is a gene highly expressed in the kidney, with a clear influence on lifespan. Low levels of Klotho have been linked to CKD progression and adverse outcomes. Single nucleotide polymorphisms (SNPs) of the Klotho gene have been associated with several diseases, but studies investigating the association of Klotho SNPs with noncardiovascular death in CKD populations are lacking. The main aim of this study was to assess whether 11 Klotho SNPs were associated with non-cardiovascular death in a subpopulation of the National Observatory of Atherosclerosis in Nephrology (NEFRONA) study (n ¼ 2185 CKD patients). After 48 months of follow-up, 62 cardiovascular deaths and 108 non-cardiovascular deaths were recorded. We identified a high non-cardiovascular death risk combination of SNPs corresponding to individuals carrying the most frequent allele (G) at rs562020, the rare allele (C) at rs2283368 and homozygotes for the rare allele (G) at rs2320762 (rs562020 GG/AG þ rs2283368 CC/CT þ rs2320762 GG). Among the patients with the three SNPs genotyped (n ¼ 1016), 75 (7.4%) showed this combination. Furthermore, 95 (9.3%) patients showed a low-risk combination carrying all the opposite genotypes (rs562020 AA þ rs2283368 TT þ rs2320762 GT/TT). All the other combinations [n ¼ 846 (83.3%)] were considered as normal risk. Using competing risk regression analysis, we confirmed that the proposed combinations are independently associated with a higher fhazard ratio [HR] 3.28 [confidence interval (CI) 1.51-7.12]g and lower [HR 6 × 10- (95% CI 3.3 × 10--1.1 × 10-)] risk of suffering a non-cardiovascular death in the CKD population of the NEFRONA cohort compared with patients with the normal-risk combination. Determination of three SNPs of the Klotho gene could help in the prediction of non-cardiovascular death in CKD

Características fisicoquímicas, de ácidos grasos y aminoácidos en corderos de ovella galega a 45 días

There were analyzed the physico-chemical properties and the profile of amino acids and fatty acids found in lambs of the Ovella Galega breed fed solely on their mother’s milk and slaughtered at 45 days. The results show a low percentage of intramuscular fat (0.62%) and lower-middle hardness (4 kg/cm 2 ). The amino acids’ profile is similar to that of a high quality protein. Concerning the fatty acids’ profile, the study shows a high percentage of unsaturated (55%), both mono and polyunsaturated, versus a lower percentage of the saturated ones (44.82%), apart from a well proportioned ratio ω 6 /ω 3, (1,88).Se han analizado los parámetros fisicoquími- cos, y el perfil de aminoácidos y de ácidos grasos en corderos de Ovella Galega alimentados exclu- sivamente con leche materna y sacrificados a los 45 días. Debe destacarse el bajo porcentaje de grasa intramuscular (0,62%) y dureza media-baja (4 kg/cm 2 ). El perfil aminoacídico se aproxima al de una proteína de alta calidad. Entre los ácidos grasos se aprecia alto porcentaje de insaturados (55%) tanto mono como poliinsaturados, y menor de saturados (44,82%). La relación ω 6 /ω 3, (1,88) es adecuada.

Parámetros de crecimiento y de la canal de corderos de la raza ovella galega sacrificados a 45 días

The Ovella Galega is a endangered sheep breed and is protected by a Conservation and Recovery Programme, in order to keep the genetic variability. A growth and carcass study was made on Ovella Galega lambs, whose main objetive is its characterization. Ten male lambs from single birth and fed solely on their mother ́s milk, all of them registered in the Record of Births of Stud-Book, were slaughtered at 45 days old. The growth and average dayly gain are in accordance to results published in other breed studies. The results show a high commercial yield (59%), apart from appropriate percentages in 1 st and 2 nd market categoriesActualmente la raza Ovella Galega se encuen- tra en peligro de extinción, por lo que está sometida a un Programa de Conservación y Recuperación donde prima la preservación de la variabilidad genética. En este trabajo se estudió el crecimiento y la canal en corderos de la raza, para profundizar en su caracterización. Se han utilizado 10 corde- ros machos de parto simple inscritos en el Libro Genealógico de la raza, criados sólo con leche materna hasta la edad de sacrificio de 45 días. El crecimiento y las GMD son acordes con los resul- tados publicados en otros estudios sobre la raza, y a pesar de que ésta presenta un pequeño formato, entre los resultados obtenidos cabe des- tacar su alto rendimiento comercial (59%) así como un adecuado porcentaje en piezas de 1a y 2a categoría