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  • 1
    Keywords: CANCER ; Germany ; human ; COHORT ; DISEASE ; POPULATION ; RISK ; GENE ; PROTEIN ; MESSENGER-RNA ; RAT ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; ACID ; ACIDS ; IDENTIFICATION ; HEALTH ; resistance ; PROMOTER ; SNP ; REDUCED RISK ; REGION ; POPULATIONS ; RECEPTORS ; TYPE-2 ; insulin ; SINGLE ; RE ; VARIANT ; SINGLE NUCLEOTIDE POLYMORPHISMS ; SNPs ; HAPLOTYPE ; single-nucleotide ; INSULIN-RESISTANCE ; prospective ; INHIBITOR DBI ; EVALUATE ; CANDIDATE ; odds ratio ; type 2 diabetes ; association study ; acyl-CoA-binding protein ; CELL-LINE LNCAP ; CHOLECYSTOKININ ; PROCESSING PRODUCTS
    Abstract: The human acyl-CoA-binding protein (ACBP) is a potential candidate gene of type 2 diabetes (T2D), since it plays a central role in determining the intracellular concentration of activated fatty acids which contribute to insulin resistance. The aim of our study was to evaluate whether single nucleotide polymorphisms (SNPs) of the ACBP gene are associated with risk of T2D. Genotyping of eight SNPs (rs2084202, rs3731607, rs8192501, rs8192504, rs2244135, rs2276596, rs8192506, rs2289948) was performed in 192 incident T2D subjects and 384 matched controls of the European Prospective Investigation into Cancer and Nutrition-Potsdam cohort. A putative promoter SNP (rs2084202) of splice variant ACBP 1c showed decreased risk of T2D (odds ratio (OR) 0.63, 95% CI 0.41-0.96). The haplotype, that contained the mutant base of rs2084202 showed similar evidence for the association with disease risk as single SNP rs2084202. In a second population-based study, Cooperative Health Research in the Augsburg Region of 226 individuals with T2D and 863 control subjects a borderline significant association between rs2084202 and T2D (OR 0.72, 95% CI 0.51 - 1.0 1) was observed. In summary, we obtained evidence from two Caucasian study populations that the minor allele of ACBP rs2084202 might be associated with reduced risk of T2D
    Type of Publication: Journal article published
    PubMed ID: 17262885
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  • 2
    Keywords: PATHWAY ; PATHWAYS ; DISEASE ; RISK ; PROTEIN ; ASSOCIATION ; VARIANTS ; DESIGN ; genetics ; meta-analysis ; inflammation ; interaction ; CORONARY-HEART-DISEASE ; METAANALYSIS ; metabolic syndrome ; myocardial infarction ; COMMON VARIANTS ; ALPHA-GENE ; CRP GENE ; EPIDEMIOLOGIC APPLICATIONS ; FRAMINGHAM ; GENETICALLY ISOLATED POPULATION ; genome-wide association study ; NETHERLANDS TWIN REGISTER
    Abstract: Background-C-reactive protein (CRP) is a heritable marker of chronic inflammation that is strongly associated with cardiovascular disease. We sought to identify genetic variants that are associated with CRP levels. Methods and Results-We performed a genome-wide association analysis of CRP in 66 185 participants from 15 population-based studies. We sought replication for the genome-wide significant and suggestive loci in a replication panel comprising 16 540 individuals from 10 independent studies. We found 18 genome-wide significant loci, and we provided evidence of replication for 8 of them. Our results confirm 7 previously known loci and introduce 11 novel loci that are implicated in pathways related to the metabolic syndrome (APOC1, HNF1A, LEPR, GCKR, HNF4A, and PTPN2) or the immune system (CRP, IL6R, NLRP3, IL1F10, and IRF1) or that reside in regions previously not known to play a role in chronic inflammation (PPP1R3B, SALL1, PABPC4, ASCL1, RORA, and BCL7B). We found a significant interaction of body mass index with LEPR (P 〈 2.9 x 10(-6)). A weighted genetic risk score that was developed to summarize the effect of risk alleles was strongly associated with CRP levels and explained approximate to 5% of the trait variance; however, there was no evidence for these genetic variants explaining the association of CRP with coronary heart disease. Conclusions-We identified 18 loci that were associated with CRP levels. Our study highlights immune response and metabolic regulatory pathways involved in the regulation of chronic inflammation.
    Type of Publication: Journal article published
    PubMed ID: 21300955
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  • 3
    Keywords: DISEASE ; VARIANTS ; STRESS ; EXCESS ; SERUM TSH ; FEEDBACK-REGULATION ; AXIS ; THYROTROPIN
    Abstract: Thyroid hormones play key roles in cellular growth, development and metabolism. Although there is a strong genetic influence on thyroid hormone levels, the genes involved are widely unknown. The levels of circulating thyroid hormones are tightly regulated by thyrotropin (TSH), which also represents the most important diagnostic marker for thyroid function. Therefore, in order to identify genetic loci associated with TSH levels, we performed a discovery meta-analysis of two genome-wide association studies including two cohorts from Germany, KORA (n = 1287) and SHIP (n = 2449), resulting in a total sample size of 3736. Four genetic loci at 5q13.3, 1p36, 16q23 and 4q31 were associated with serum TSH levels. The lead single-nucleotide polymorphisms of these four loci were located within PDE8B encoding phosphodiesterase 8B, upstream of CAPZB that encodes the beta-subunit of the barbed-end F-actin-binding protein, in a former 'gene desert' that was recently demonstrated to encode a functional gene (LOC440389) associated with thyroid volume, and upstream of NR3C2 encoding the mineralocorticoid receptor. The latter association for the first time suggests the modulation of thyroid function by mineral corticoids. All four loci were replicated in three additional cohorts: the HUNT study from Norway (n = 1487) and the two German studies CARLA (CARLA, n = 1357) and SHIP-TREND (n = 883). Together, these four quantitative trait loci accounted for approximately 3.3% of the variance in TSH serum levels. These results contribute to our understanding of genetic factors and physiological mechanisms mediating thyroid function.
    Type of Publication: Journal article published
    PubMed ID: 22494929
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  • 4
    Keywords: CELLS ; DISEASE ; GENE-EXPRESSION ; VARIANTS ; REVEALS ; BREAST-CANCER RISK ; METAANALYSIS ; WIDE ASSOCIATION ; CENTRAL PRECOCIOUS PUBERTY ; HUMAN PREFRONTAL CORTEX
    Abstract: Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-causemortality(1). Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation(2,3), but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P 〈 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and gamma-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.
    Type of Publication: Journal article published
    PubMed ID: 25231870
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