Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis of genome-wide association scans from 14 studies totalling 28,141 participants of European descent, resulting in identification of 954 SNPs distributed across nine loci that exceeded the threshold of genome-wide significance, five of which are novel. Overall, the common variants associated with serum uric acid levels fall in the following nine regions: SLC2A9 (p = 5.2x10(-201)), ABCG2 (p = 3.1x10(-26)), SLC17A1 (p = 3.0x10(-14)), SLC22A11 (p = 6.7x10(-14)), SLC22A12 (p = 2.0x10(-9)), SLC16A9 (p = 1.1x10(-8)), GCKR (p = 1.4x10(-9)), LRRC16A (p = 8.5x10(-9)), and near PDZK1 (p = 2.7x10(-9)). Identified variants were analyzed for gender differences. We found that the minor allele for rs734553 in SLC2A9 has greater influence in lowering uric acid levels in women and the minor allele of rs2231142 in ABCG2 elevates uric acid levels more strongly in men compared to women. To further characterize the identified variants, we analyzed their association with a panel of metabolites. rs12356193 within SLC16A9 was associated with DL-carnitine (p = 4.0x10(-26)) and propionyl-L-carnitine (p = 5.0x10(-8)) concentrations, which in turn were associated with serum UA levels (p = 1.4x10(-57) and p = 8.1x10(-54), respectively), forming a triangle between SNP, metabolites, and UA levels. Taken together, these associations highlight additional pathways that are important in the regulation of serum uric acid levels and point toward novel potential targets for pharmacological intervention to prevent or treat hyperuricemia. In addition, these findings strongly support the hypothesis that transport proteins are key in regulating serum uric acid levels.

Katko vai eiku? : Itsekorjauksen aloitustavat ja vuorovaikutustehtävät

E. Summary: Cut-off, the particle eiku and other particles for initiating self-repair, and the interactional functions of self-repair

Kansan huvituksista kahden puolen ramppia

Kirja-arvio

Työn ja koulutuksen suhde : opettajana työskentelyn yhteydestä opettajaksi opiskeluun

Summary: The relationship between work and training : the links between working as a teacher and teacher education

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ∼ 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10⁻⁸), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.

Yliopistokirjaston strateginen kumppanuus yliopiston tietoprosesseissa

Summary: The Strategic role of the university library in knowledge processes of the university

Pumppuvaivaisten kertomuksia sairaudestaan ja terveydenhuollon järjestelmästä

Summary: "Ailment with my pump" - narratives about ailment and the health care system

Verkkoliitteessä ilmestyvät lektiot

Leena Kolehmainen: Saksan ja suomen verbien morfologiaa, fraseologiaa, semantiikkaa ja valenssinmuutoksia ; Annekatrin Kaivapalu: Lähdekieli kielenoppimisen apuna ; Katja Huumo: Tieteen suomen suuntaviivat ; Paula Sjöblom: Nimellä on merkitystä ; Minna Sääskilahti: Vapise, kuningas alkoholi. Alkoholivalistuksen tekstilaji ja sen muuttuminen vuosien 1755 ja 2001 välisenä aikana

Relationship between biomass and percentage cover in understorey vegetation of boreal coniferous forests

[Abstract]