scholarly journals DIRC3-IGFBP5 is a shared genetic risk locus and therapeutic target for carpal tunnel syndrome and trigger finger

2021 ◽  
Author(s):  
Benjamin Patel ◽  
Sam O. Kleeman ◽  
Drew Neavin ◽  
Joseph Powell ◽  
Georgios Baskozos ◽  
...  
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Genome Wide Association Study ◽  
Trigger Finger ◽  
Eqtl Analysis ◽  
Genome Wide ◽  
Healthy Donors ◽  
A Genome ◽  
Tunnel Syndrome ◽  
Shared Genetic

AbstractTrigger finger (TF) and carpal tunnel syndrome (CTS) are two common non-traumatic hand disorders that frequently co-occur. By identifying TF and CTS cases in UK Biobank (UKB), we confirmed a highly significant phenotypic association between the diseases. To investigate the genetic basis for this association we performed a genome-wide association study (GWAS) including 2,908 TF cases and 436,579 European controls in UKB, identifying five independent loci. Colocalization with CTS summary statistics identified a co-localized locus at DIRC3 (lncRNA), which was replicated in FinnGen and fine-mapped to rs62175241. Single-cell and bulk eQTL analysis in fibroblasts from healthy donors (n=79) and tenosynovium samples from CTS patients (n=77) showed that the disease-protective rs62175241 allele was associated with increased DIRC3 and IGFBP5 expression. IGFBP5 is a secreted antagonist of IGF-1 signaling, and elevated IGF-1 levels were associated with CTS and TF in UKB, thereby implicating IGF-1 as a driver of both diseases.

scholarly journals A genome-wide meta-analysis identifies 53 sequence variants associating with carpal tunnel syndrome

2022 ◽  
Author(s):  
Astros Skuladottir ◽  
Gyda Bjornsdottir ◽  
Egil Ferkingstad ◽  
Gudmundur Einarsson ◽  
Lilja Stefansdottir ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Genome Wide Association Study ◽  
Meta Analysis ◽  
Missense Variant ◽  
Sequence Variants ◽  
Genome Wide ◽  
A Genome ◽  
Tunnel Syndrome

Abstract Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (Ncases = 48,843, Ncontrols = 1,190,837), we found 53 sequence variants at 50 loci that associate with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10−24, OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in recurrent/persistent cases than nonrecurrent/nonresistant cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS.

scholarly journals A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 751
Author(s):  
Hye-Rim Kim ◽  
Hyun-Seok Jin ◽  
Yong-Bin Eom
Keyword(s):  
Blood Pressure ◽  
Kidney Disease ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Integrated Analysis ◽  
Eqtl Analysis ◽  
Strong Linkage Disequilibrium ◽  
Genome Wide ◽  
A Genome

Hypertension is one of the major risk factors for chronic kidney disease (CKD), and the coexistence of hypertension and CKD increases morbidity and mortality. Although many genetic factors have been identified separately for hypertension and kidney disease, studies specifically focused on hypertensive kidney disease (HKD) have been rare. Therefore, this study aimed to identify loci or genes associated with HKD. A genome-wide association study (GWAS) was conducted using two Korean cohorts, the Health Examinee (HEXA) and Korean Association REsource (KARE). Consequently, 19 single nucleotide polymorphisms (SNPs) were found to be significantly associated with HKD in the discovery and replication phases (p < 5 × 10−8, p < 0.05, respectively). We further analyzed HKD-related traits such as the estimated glomerular filtration rate (eGFR), creatinine, blood urea nitrogen (BUN), systolic blood pressure (SBP) and diastolic blood pressure (DBP) at the 14q21.2 locus, which showed a strong linkage disequilibrium (LD). Expression quantitative trait loci (eQTL) analysis was also performed to determine whether HKD-related SNPs affect gene expression changes in glomerular and arterial tissues. The results suggested that the FANCM gene may affect the development of HKD through an integrated analysis of eQTL and GWAS and was the most significantly associated candidate gene. Taken together, this study indicated that the FANCM gene is involved in the pathogenesis of HKD. Additionally, our results will be useful in prioritizing other genes for further experiments.

Dupuytren's disease, carpal tunnel syndrome, trigger finger, and diabetes mellitus

1995 ◽  
Vol 20 (1) ◽  
pp. 109-114 ◽  
Author(s):  
Michel Chammas ◽  
Philippe Bousquet ◽  
Eric Renard ◽  
Jean-Luc Poirier ◽  
Claude Jaffiol ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Dupuytren’S Disease ◽  
Trigger Finger ◽  
Dupuytren's Disease ◽  
Tunnel Syndrome

Illness Perceptions of Patients With First Carpometacarpal Osteoarthritis, Carpal Tunnel Syndrome, Dupuytren Contracture, or Trigger Finger

2020 ◽  
Vol 45 (5) ◽  
pp. 455.e1-455.e8 ◽  
Author(s):  
Mark J.W. van der Oest ◽  
Ralph Poelstra ◽  
Reinier Feitz ◽  
Ana-Maria Vranceanu ◽  
Harm P. Slijper ◽  
...  
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Illness Perceptions ◽  
Trigger Finger ◽  
Tunnel Syndrome ◽  
Dupuytren Contracture ◽  
Carpometacarpal Osteoarthritis

Idiopathic Carpal Tunnel Syndrome and Trigger Finger: Is There an Association?

2008 ◽  
Vol 34 (1) ◽  
pp. 58-59 ◽  
Author(s):  
P. KUMAR ◽  
I. CHAKRABARTI
Keyword(s):  
Rheumatoid Arthritis ◽  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Trigger Finger ◽  
Study Group ◽  
Population Prevalence ◽  
Idiopathic Carpal Tunnel Syndrome ◽  
Tunnel Syndrome ◽  
A Prospective Study ◽  
Hospital Outpatients

Carpal tunnel syndrome (CTS) and trigger finger are known to occur together in association with conditions such as diabetes mellitus, rheumatoid arthritis and hypothyroidism. Although most cases that present to a hand clinic have no obvious predisposing cause, the two conditions often appear together in the same patient. We performed a prospective study of the prevalence of CTS in hospital outpatients presenting with trigger finger. Six hundred and eighty-one patients with CTS, trigger finger or both conditions were recruited prospectively. Diagnosis of both disorders was made on clinical grounds. The study group comprised 551 patients with no obvious predisposing cause. Of 211 patients with trigger finger, 91 (43%) also had CTS. This prevalence is substantially higher than the population prevalence of CTS of approximately 4%. Our data support an association between idiopathic CTS and idiopathic trigger finger and lend support to common pathophysiological factors.

Sign in / Sign up

Export Citation Format

Share Document