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- Sandholm, Niina, et al.
(author)
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New susceptibility loci associated with kidney disease in type 1 diabetes
- 2012
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In: PLOS Genetics. - San Francisco, USA : Public Library of Science, PLOS. - 1553-7390 .- 1553-7404. ; 8:9, s. e1002921-
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Journal article (peer-reviewed)abstract
- Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion of the excess mortality associated with type 1 diabetes (T1D). Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN. Furthermore, strong familial aggregation supports genetic susceptibility to DN. However, the genes and the molecular mechanisms behind the disease remain poorly understood, and current therapeutic strategies rarely result in reversal of DN. In the GEnetics of Nephropathy: an International Effort (GENIE) consortium, we have undertaken a meta-analysis of genomewide association studies (GWAS) of T1D DN comprising similar to 2.4 million single nucleotide polymorphisms (SNPs) imputed in 6,691 individuals. After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 x 10(-8)) and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 x 10(-9)). Functional data suggest that AFF3 influences renal tubule fibrosis via the transforming growth factor-beta (TGF-beta 1) pathway. The strongest association with DN as a primary phenotype was seen for an intronic SNP in the ERBB4 gene (rs7588550, P = 2.1 x 10(-7)), a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN.
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- Parikka, K., et al.
(author)
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Thermally stable hydrogels from enzymatically oxidized polysaccharides
- 2012
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In: Food Hydrocolloids. - : Elsevier. - 0268-005X .- 1873-7137. ; 26:1, s. 212-220
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Journal article (peer-reviewed)abstract
- Polysaccharides guar galactomannan (guar gum), locust bean galactomannan (locust bean gum) and tamarind galactoxyloglucan were selectively oxidized by galactose oxidase. The degrees of oxidation of the products were 18-28% for guar galactomannan, 10-16% for locust bean galactomannan and 12-14% for tamarind galactoxyloglucan, calculated from the ratio of oxidized galactose units and total carbohydrates. The rheological properties of the unoxidized and oxidized polysaccharide solutions were investigated by determining their viscosities, storage and loss moduli, and temperature dependence of moduli from 20 °C to 90 °C. All the studied oxidized polysaccharides formed hydrogels throughout the entire temperature range. Concentration (0.2-1% w/v) and degree of oxidation had an effect on the gel formation. The oxidized galactomannans formed stable gels already in low concentrations, such as 0.2-0.4% w/v, while oxidized galactoxyloglucan required a concentration of 0.8% w/v to be stable up to 90 °C. The oxidized polysaccharide hydrogels are highly potential materials for food and medical applications requiring thermal stability.
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