English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  Serum creatinine (S CR ) is the most important biomarker for a quick and non-invasive assessment of kidney function in population-based surveys. A substantial proportion of the inter-individual variability in S CR  level is explicable by genetic factors.    Methods  We performed a meta-analysis of genome-wide association studies of S CR  undertaken in five population isolates ('discovery cohorts'), all of which are part of the European Special Population Network (EUROSPAN) project. Genes showing the strongest evidence for an association with S CR  (candidate loci) were replicated in two additional population-based samples ('replication cohorts').    Results  After the discovery meta-analysis, 29 loci were selected for replication. Association between S CR  level and polymorphisms in the collagen type XXII alpha 1 ( COL22A1 ) gene, on chromosome 8, and in the synaptotagmin-1 ( SYT1 ) gene, on chromosome 12, were successfully replicated in the replication cohorts (p value = 1.0 × 10 -6  and 1.7 × 10 -4 , respectively). Evidence of association was also found for polymorphisms in a locus including the gamma-aminobutyric acid receptor rho-2 ( GABRR2 ) gene and the ubiquitin-conjugating enzyme E2-J1 ( UBE2J1 ) gene (replication p value = 3.6 × 10 -3 ). Previously reported findings, associating glomerular filtration rate with SNPs in the uromodulin ( UMOD ) gene and in the schroom family member 3 ( SCHROOM3 ) gene were also replicated.    Conclusions  While confirming earlier results, our study provides new insights in the understanding of the genetic basis of serum creatinine regulatory processes. In particular, the association with the genes  SYT1  and  GABRR2  corroborate previous findings that highlighted a possible role of the neurotransmitters GABA A  receptors in the regulation of the glomerular basement membrane and a possible interaction between GABA A receptors and synaptotagmin-I at the podocyte level.

A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2with serum creatinine level