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Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy.
- Source :
-
Annals of hematology [Ann Hematol] 2018 Apr; Vol. 97 (4), pp. 685-695. Date of Electronic Publication: 2018 Jan 12. - Publication Year :
- 2018
-
Abstract
- Studies have suggested that IL-23/STAT3 and IL-12/STAT4 signaling pathways associate with aplastic anemia (AA) occurrence. Polymorphisms in pathway-related genes may contribute to AA risk. In the current study, we investigated the association between polymorphisms in genes of IL23R, STAT3, IL12B, and STAT4 and occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China. In the current 164 AA cases and 211 controls study, we found T allele and TT genotype of rs7574865 were more frequent in the cases than that in the controls. In the additive model, individual carrying rs7574865 T allele demonstrated a 37% (OR (95% CI) = 1.37 (1.02-1.85), Pper = 0.036) increased AA risk. In the recessive model, carrier with rs7574865 TT genotype showed a 2.08-fold increased AA risk (OR (95% CI) = 2.08 (1.14-3.70), Pper = 0.017). Additionally, we showed that G allele and GG genotype of rs11209032 were more frequent in the 88 non-severe AA cases than that in the 76 severe AA ones. Our study also found G allele and GG genotype of rs11209032, and GG-genotype of rs744166 associated with the immunosuppressive therapy outcome in AA patients. Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China.
- Subjects :
- Adolescent
Adult
Anemia, Aplastic immunology
Anemia, Aplastic physiopathology
Asian People
Case-Control Studies
China
Female
Follow-Up Studies
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Interleukin-12 Subunit p40 genetics
Male
Middle Aged
Retrospective Studies
Severity of Illness Index
Treatment Outcome
Young Adult
Anemia, Aplastic genetics
Anemia, Aplastic therapy
Immunosuppression Therapy
Polymorphism, Single Nucleotide
Receptors, Interleukin genetics
STAT3 Transcription Factor genetics
STAT4 Transcription Factor genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-0584
- Volume :
- 97
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Annals of hematology
- Publication Type :
- Academic Journal
- Accession number :
- 29330562
- Full Text :
- https://doi.org/10.1007/s00277-018-3227-7