| 1. |
- Baumann, Ulrich, et al.
(author)
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Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma.
- 2006
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In: Journal of pediatric gastroenterology and nutrition. - : Ovid Technologies (Wolters Kluwer Health). - 0277-2116. ; 43:1, s. 77-82
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Journal article (peer-reviewed)abstract
- Despite the introduction of 2-(2-nitro-4-trifluormethyl-benzoyl)-1,3-cyclohexandion into the treatment of hereditary tyrosinemia type I (HT1), patients remain at risk of developing hepatocellular carcinoma (HCC). Serial total alpha-fetoprotein (AFP) levels are used to monitor the individual patient. Lectin-reactive alpha-fetoprotein (L3-AFP) is an AFP isoform that is expressed by malignant liver tumors. We investigated whether the analysis of L3-AFP could lead to earlier detection of HCC in HT1 compared with judgement based on total AFP alone. AFP electrophoresis using lectin-containing agarose gel identifies L3-AFP by the affinity of its specific carbohydrate chain to lectin. We report the retrospective analysis of sequential serum samples of 12 patients with HT1 and histologically proven HCC. AFP isoforms could be identified in all 12 patients. In 6 patients, the L3-AFP increased before the total AFP. In 3 patients, the rise in L3-AFP was parallel to the rise of total AFP; and in 3 patients, the L3-AFP was raised after the total AFP or did not increase at all. We were able to identify 6 of 12 patients with an early increase in the new tumor marker. Lectin-affinity electrophoresis may have a role in discriminating benign liver disease from HCC in HT1. We suggest the further evaluation of L3-AFP in HT1.
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| 2. |
- Erdmann, Jeanette, et al.
(author)
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New susceptibility locus for coronary artery disease on chromosome 3q22.3
- 2009
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:3, s. 280-282
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Journal article (peer-reviewed)abstract
- We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in similar to 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
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| 3. |
- Gudbjartsson, Daniel F., et al.
(author)
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Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
- 2009
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 41:3, s. 342-347
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Journal article (peer-reviewed)abstract
- Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Icelanders. The most significant SNPs were studied further in 12,118 Europeans and 5,212 East Asians. SNPs at 2q12 (rs1420101), 2q13 (rs12619285), 3q21 (rs4857855), 5q31 (rs4143832) and 12q24 (rs3184504) reached genome-wide significance (P = 5.3 x 10(-14), 5.4 x 10(-10), 8.6 x 10(-17), 1.2 x 10(-10) and 6.5 x 10(-19), respectively). A SNP at IL1RL1 associated with asthma (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls). SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4.2 x 10(-6), 2.2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).
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