Expressive

rs11128810 - PLCL2

Magnitude 2.2 · 2 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

  • Genetic architecture of routinely acquired blood tests in a British South Asian cohort - Unknown journal (n.d.) · Unknown authors · PubMed 39414775

    ABSTRACT: Understanding the genetic basis of routinely-acquired blood tests can provide insights into several aspects of human physiology. We report a genome-wide association study of 42 quantitative blood test traits defined using Electronic Healthcare Records (EHRs) of ~50,000 British Bangladeshi and British Pakistani adults. We demonstrate a causal variant within the PIEZO1 locus which was associated with alterations in red cell traits and glycated haemoglobin. Conditional analysis and within-ancestry fine mapping confirmed that this signal is driven by a missense variant - chr16-88716656-G-TT - which is common in South Asian ancestries (MAF 3.9%) but ultra-rare in other ancestries. Carriers of the T allele had lower mean HbA1c values, lower HbA1c values for a given level of random or

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