Genetics Research
rs10758669
Gene: INTERGENIC — Intergenic / Genome-wide
Chr 9:4981602
Population Frequencies12
African
C 0.18023A 0.81977CC 0.036963CA/AC 0.286537AA 0.676501pop=58,708
African American
C 0.18186A 0.81814CC 0.037268CA/AC 0.289183AA 0.673549pop=56,670
African Others
C 0.1349A 0.8651CC 0.028459CA/AC 0.212954AA 0.758587pop=2,038
Asian
C 0.35525A 0.64475CC 0.128047CA/AC 0.454402AA 0.417551pop=13,948
East Asian
C 0.3456A 0.6544CC 0.118185CA/AC 0.454823AA 0.426992pop=10,492
European
C 0.349767A 0.650233CC 0.123845CA/AC 0.451844AA 0.42431pop=553,788
Latin American 1
C 0.296A 0.704CC 0.090216CA/AC 0.411478AA 0.498306pop=9,444
Latin American 2
C 0.42768A 0.57232CC 0.185966CA/AC 0.483427AA 0.330607pop=18,584
Other
C 0.35296A 0.64704CC 0.130099CA/AC 0.445717AA 0.424184pop=28,978
Other Asian
C 0.3845A 0.6155CC 0.157986CA/AC 0.453125AA 0.388889pop=3,456
South Asian
C 0.4223A 0.5777CC 0.188679CA/AC 0.46717AA 0.344151pop=7,950
Studies11
Unread Studies11 ▼
1
A case-control study was utilized to investigate the relationship between genetic variation of JAK-STAT signaling pathway-related genes and the susceptibility to ankylosing spondylitis (AS). Fifteen SNPs in the JAK-STAT signaling pathway-related genes from 660 AS patients and 646 healthy controls were genotyped using iMLDR technology (JAK1: rs2230587, rs2230588, rs2780815, rs310241; JAK2: rs2274472, rs2230722, rs2230724, rs10758669; STAT1: rs10199181, rs1547550, rs2066802, rs45463799, rs6718902;…
2
Purpose. This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) of JAK-STAT signaling pathway genes and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS) in the Han Chinese population. Methods. Eleven SNPs of the JAK1, JAK2, STAT1, IRF1, and NOS2 genes were analyzed in 443 AAU patients with AS, 486 AAU patients without AS, and 714 healthy controls. Genotyping was performed by PCR-RFLP assay or TaqMan® probe assay. The Chi-square…
3
Inflammatory bowel diseases are chronic, relapsing, inflammatory conditions. They have a genetic backround resulting in patient susceptibility. The aim of our study is to investigate the involvement of IL23R, JAK2, and STAT3 polymorphisms in inflammatory bowel diseases in a Turkish population. Polymorphisms in IL23R (rs11209026), JAK2 (rs10758669), and STAT3 (rs3816769, rs2293152, rs744166, rs957970, rs8074524) were genotyped in 69 Crohn's disease patients, 157 ulcerative colitis patients, and 8…
4
JAK2 genetic variants are associated with inflammatory bowel disease (IBD) and JAK inhibitors are being evaluated for therapy targeting immune-mediated diseases, including IBD. As JAK pathway-mediated cytokine regulation varies across cell types and stimulation conditions, we examined how JAK signaling and IBD-associated JAK2 variants regulate distinct acute and chronic microbial product exposure outcomes in human myeloid cells, consistent with the conditions of initial entry and ongoing intesti…
5
In this meta-analysis, we aimed to clarify the impact of Janus kinase 2 (JAK2) rs10758669 polymorphisms on ulcerative colitis (UC) and Crohn's disease (CD) risk. Data were extracted, and pooled odd ratios (ORs) as well as 95% confidence intervals (95%CIs) were calculated. Eleven studies with 7009 CD patients, 7929 UC patients, and 19235 controls were included. The results showed that JAK2 rs10758669 polymorphism was associated with CD (AC vs. AA, OR = 1.16, 95%CI, 1.08-1.24; CC vs.…
6
Janus kinase 1 (JAK1), JAK2, and signal transducer and activator of transcription 3 (STAT3) play an important role in Th1 and Th17 differentiation and gene polymorphisms of these factors have been demonstrated to be associated with certain autoimmune diseases. The present study was performed to assess the association between JAK1, JAK2, and STAT3 polymorphisms and Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population. A case-control study was performed in 737 Chinese VKH syndrome patie…
7
Genome-wide association studies identified many loci associated with the two forms of inflammatory bowel disease (IBD), Crohn's disease (CD) and ulcerative colitis (UC). Components of the interleukin-23 signalling pathway, such as IL23R, JAK2 and STAT3, have been implicated in both diseases. In addition, emerging evidence supports the role of IL23-driven Th17 cells in inflammation. Here, we studied the susceptibility nature of three components of IL23 signalling and Th17 cell differentiation: JA…
8
Janus kinase 2 (JAK2) and signal transducer and activator of transcription 3 (STAT3) polymorphisms have been demonstrated as a common risk factor for a number of autoimmune diseases. The aim of this study was to investigate the association of JAK2 and STAT3 polymorphisms with Behçet's disease (BD) in a Han Chinese population. A case-control study was performed in 503 Chinese patients with BD and 615 healthy controls. The genotypes of three single-nucleotide polymorphisms (SNPs) (rs10758669,…
9
The aetiology of intestinal barrier dysfunction in Crohn's disease (CD) is poorly understood. Associations in relatives of CD families suggest a genetic basis, but the relevant variants are still unknown. We hypothesized that variants in genes occurring in pathways such as autophagy and IL23 signalling might contribute to CD by altering intestinal permeability. We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and rs13361189 within IRGM) in adult Ger…
10
The Signal Transducers and Activators of Transcription (STAT)-Janus kinase (JAK) pathway controls signal transduction between cell surface receptors and the nucleus. Two members of that pathway, STAT3 and JAK2, enhanced the risk of Crohn's disease (CD) in recent genome-wide association studies. We replicated these findings in a New Zealand Caucasian case-control cohort, by genotyping two single nucleotide polymorphisms (SNPs) in STAT3 (rs744166(G>A) and rs3816769(C>T)) and rs10758669(A>…
11
JAK2V617F is an acquired mutation associated with polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). We tested the hypothesis that the paradox of a single disease allele associated with 3 distinctive clinical phenotypes could be explained in part by host-modifying influences. We screened for genetic variation within 4 candidate genes involved in JAK-STAT signaling, including receptors for erythropoietin (EPOR), thrombopoietin (MPL), and granulocyte colony-st…
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
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Unused Studies0 ▼
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