Phenome-wide association study using research participants’ self-reported data provides insight into the Th17 and IL-17 pathway
نویسندگان
چکیده
A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000 research participants of 23andMe. Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-reported traits can be a surrogate for clinically assessed conditions. Novel associations controlling for a false discovery rate of 5% included the association of the variant encoding p.Ile684Ser in TYK2 with increased risk of tonsillectomy, strep throat occurrences and teen acne, the variant encoding p.Arg381Gln in IL23R with a decrease in dandruff frequency, the variant encoding p.Asp10Asn in TRAF3IP2 with risk of male-pattern balding, and the RORC regulatory variant (rs4845604) with protection from allergies. This approach enabled rapid assessment of association with a wide variety of traits and investigation of traits with limited reported associations to overlay meaningful phenotypic context on the range of conditions being considered for drugs targeting this pathway.
منابع مشابه
Sarcoidosis is a Th1/Th17 multisystem disorder: wider implications.
Facco et al demonstrated elevated levels of T helper 17 (Th17) cells in the peripheral blood and in the bronchoalveolar lavage of patients with active sarcoidosis; increased expression of interleukin 17 (IL-17) and IL-23R in lung and lymph node specimens was also noted. These results suggest a role for the IL-23/ Th17 inflammatory axis in the pathogenesis of sarcoidosis. Crohn’s disease (CD) is...
متن کاملInvestigation of the relationship between the Th17/IL-23 pathway and innate-adaptive immune system in TNBS-induced colitis in rats
Objective(s): This study was aimed at investigating immune activations of the 2,4,6-trinitrobenzene sulfonic acid (TNBS)-induced colitis model in colonic mucosa by immunohistochemical and Western blot methods. Materials and Methods: For this purpose, 16 female Wistar albino rats were divided into two random groups of control (n=8) and colitis (n=8). The experimental colitis model was induced by...
متن کاملبررسی سایتوکاینهای سلولهای Th1 و TH17 تحریک شده در محیط کشت سلولی در زنان مبتلا به سقط مکررخود به خودی
Introduction: Various immunological abnormalities have been reported in women with RSA of unknown aetiologies including autoimmune abnormalities and increased cellular immunity such as elevated natural killer (NK) , Th1 and Th17 cell levels. Th17 and Th1 cells play a central role during inflammation. Th1 cells product cytokines IFN-γ, IL-2 and Th17 cells mainly cytokines IL-17A, F, IL-22. The a...
متن کاملInfluence of 1 Alpha, 25-Dihydroxyvitamin D3 on T Helper 17 Cells and Related Cytokines in Systemic Lupus Erythematosus
Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease. Emerging data suggests that T helper 17 (Th17) cells play a pathogenic role in SLE and the increased number of these cells correlates with disease activity. In recent years, 1α, 25-dihydroxyvitamin D3 (1,25VitD3) has been considered as an immunomodulatory factor. Objective: To investigate the effect of 1,25VitD3...
متن کاملInvestigating the Association of IL-17A and IL-17F with Susceptibility to Pre-eclampsia in Iranian Women
Background: Pre-eclampsia (PE) is one of the most important and life-threatening pregnancy disorders that affect at least 3-5% of all pregnancies. Imbalance in helper T cell functions may play a role in predisposing to PE or severity of the disease. Elevated frequencies of Th17 cells in the peripheral blood of PE patients have been reported. Several single nucleotide polymorphisms (SNP) within ...
متن کامل