Expressive

rs12270054 - LTBP3

Magnitude 4.5 · 3 studies on file

Reported associations

  • Genome-wide association meta-analysis of knee and hip osteoarthritis uncovers genetic differences between patients treated with joint replacement and patients without joint replacement. - Annals of the rheumatic diseases (2023) · Henkel C, Styrkársdóttir U, Thorleifsson G, Stefánsdóttir L, Björnsdóttir G, Banasik K, Brunak S, Erikstrup C, Dinh KM, Hansen TF, Nielsen KR, Bruun MT, Dowsett J, Brodersen T, Thorgeirsson TE, Gromov K, Boesen MP, Ullum H, Ostrowski SR, Pedersen OB, Stefánsson K, Troelsen A · PubMed 36376028

    Osteoarthritis is a common and severe, multifactorial disease with a well-established genetic component. However, little is known about how genetics affect disease progression, and thereby the need for joint placement. Therefore, we aimed to investigate whether the genetic associations of knee and hip osteoarthritis differ between patients treated with joint replacement and patients without joint replacement. We included knee and hip osteoarthritis cases along with healthy controls, altogether counting >700 000 individuals. The cases were divided into two groups based on joint replacement status (surgical vs non-surgical) and included in four genome-wide association meta-analyses: surgical knee osteoarthritis (N = 22 525), non-surgical knee osteoarthritis (N = 38 626), surgical hip o

  • Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology - Unknown journal (n.d.) · Unknown authors · PubMed 33547301

    ABSTRACT: Serum liver enzyme concentrations are the most frequently-used laboratory markers of liver disease, a major cause of mortality. We conduct a meta-analysis of genome-wide association studies of liver enzymes from UK BioBank and BioBank Japan. We identified 160 previously-unreported independent alanine aminotransferase, 190 aspartate aminotransferase, and 199 alkaline phosphatase genome-wide significant associations, with some affecting multiple different enzymes. Associated variants implicate genes that demonstrate diverse liver cell type expression and promote a range of metabolic and liver diseases. These findings provide insight into the pathophysiology of liver and other metabolic diseases that are associated with serum liver enzyme concentrations. Serum liver enzymes are used

  • Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure - Unknown journal (n.d.) · Unknown authors · PubMed 36653343

    ABSTRACT: Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of the population. It typically presents in adulthood and half of the patients have a positive family history. The pathophysiology of otosclerosis is poorly understood. A previous genome-wide association study (GWAS) identified a single association locus in an intronic region of RELN. Here, we report a meta-analysis of GWAS studies of otosclerosis in three population-based biobanks comprising 3504 cases and 861,198 controls. We identify 23 novel risk loci (p < 5 × 10−8) and report an association in RELN and three previously reported candidate gene or linkage regions (TGFB1, MEPE, and OTSC7). We demonstrate developmental stage-dependent immunostaining patterns of MEPE and RUNX2 in m

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