TSLPR gene polymorphism is associated with systemic lupus erythematosus in the Korean population

Yu, Ji-In; Chun, Sang-Woo; Yun, Ki-Jung; Moon, Hyung–Bae; Chae, Soo-Cheon

doi:10.1007/s13258-011-0148-4

Cited by 7 publications

(5 citation statements)

References 20 publications

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“…Consistent with previous studies, TSLPR gene polymorphisms were found to be correlated with increased susceptibility to atopic asthma in the Korean population( Yu et al, ) and with systematic lupus erythematous( Yu, Chun, Yun, Moon, & Chae, ). However, although several SNPs in IL7R have been associated with a wide range of diseases like liver disease in HIV/HCV infected patients (Guzmán‐Fulgencio et al, ) and sclerosis risk (Wu et al, ).…”

Section: Discussionsupporting

confidence: 90%

TSLP and TSLP receptors variants are associated with smoking

Semlali

Almutairi

Azzi

et al. 2019

Molec Gen & Gen Med

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Background To search for new prevention markers for early detection of the diseases caused by tobacco, we aimed to investigate the polymorphisms in TSLP and TSLPRs associated with cigarette smoking in the Saudi population. Materials and methods Samples were collected from 177 smokers and 126 healthy controls. Three TSLP SNPs [rs3806933, rs2289276, and rs10043985], three TSLPR SNPs [rs36133495, rs36177645, and rs36139698], and two IL7R SNPs rs1053496 and rs12516866 were analyzed by genotyping. Results Two TSLP SNPs (rs10043985 and rs3806933) and one TSLPR SNP (rs36139698) showed significant correlations with smoking behavior, but not IL7R rs12516866 and rs1053496. rs10043985 showed a clear association with long‐term smoking regardless of daily cigarette consumption. rs2289276 was associated with short‐term smoking but not with daily cigarette consumption. rs3806933 was highly associated with different smoker subgroups. Rs36139698 was highly associated with long‐term smokers who consumed ≥20 cigarettes/day, and the “T” allele was associated only with individuals who smoked ≤20 cigarettes/day. Rs36139698 corresponds to a P195L substitution and produces a TSLPR mutant with a predicted ΔΔG increase of 2.15 kcal/mol and has a more stable structure than the wild‐type variant. Conclusions Investigating TSLP and TSLPR polymorphisms is crucial for elucidating the mechanisms underlying tobacco‐induced diseases.

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Section: Discussionsupporting

confidence: 90%

TSLP and TSLP receptors variants are associated with smoking

Semlali

Almutairi

Azzi

et al. 2019

Molec Gen & Gen Med

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“…SNPs in the signal transducer and activator of transcription 4 gene are associated with nephritis, as well as double stranded DNA autoantibodies in SLE patients, 16 with accumulating reports also signifying that these SNPs are associated with clinical features of SLE. [17][18][19] We previously reported that rs1044856 and rs1359184 in EPSTI1 are associated with elevated ESR and ANA levels in SLE patients, respectively, 11 and also that SNPs in the Forkhead-box J1, 20 interleukin coactosin-like 1, 21 thymic stromal lymphopoietin receptor, 22 GABRP, 10 and EPSTI1 genes 11 are associated with SLE susceptibility in the Korean population. In the present study, we evaluated the association between BMP6 polymorphisms and SLE susceptibility.…”

Section: Discussionmentioning

confidence: 96%

Bone Morphogenetic Protein 6 Polymorphisms are Associated With Systemic Lupus Erythematosus Susceptibility in the Korean Population

Chae

2018

Arch Rheumatol

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Objectives: This study aims to investigate whether bone morphogenetic protein 6 (BMP6) single-nucleotide polymorphism (SNP) is associated with susceptibility to systematic lupus erythematosus (SLE). Patients and methods: We analyzed the genotype and allele frequencies of BMP6 SNPs using genomic deoxyribonucleic acid (DNA) isolated from 119 SLE patients (9 males, 110 females; mean age 36.4 years; range 19 to 59 years) and 509 healthy controls (323 males, 186 females; mean age 42.1 years; range 19 to 61 years). Genomic DNA was extracted from peripheral blood leukocytes using a standard phenol-chloroform method or by using a genomic DNA extraction kit. Erythrocyte sedimentation rate, C-reactive protein, and antinuclear antibody levels of SLE patients were recorded. Results: Our results showed that the genotype frequencies of rs17557 and rs9505273 for BMP6 in SLE patients significantly differed from those of the control group (p=0.01 and p=0.04, respectively). The genotype frequencies of the rs17557 and rs9505273 for BMP6 in female SLE patients were also significantly different from those in female healthy controls (p=0.04 and p=0.03, respectively). We also revealed that the distribution of the main haplotypes of BMP6 SNPs in SLE patients was significantly different from their distribution in healthy controls. Conclusion: These results suggested that SNPs in BMP6 might be associated with susceptibility to SLE and that haplotypes of BMP6 polymorphisms might represent useful genetic markers for SLE.

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“…Management of this disease is complex and usually involves many different specialties for optimal patient management [ 11 ]. We previously reported that SNPs in the forkhead-box J1 ( FOXJ1 ), interleukin coactosin-like 1 ( COTL1 ), and thymic stromal lymphopoietin receptor ( TSLPR ) genes are associated with susceptibility to SLE in a Korean population [ 12 – 14 ]. In this study, we evaluated the association between GABRP polymorphisms and susceptibility to SLE.…”

Section: Discussionmentioning

confidence: 99%

The Association of theGABRPPolymorphisms with Systemic Lupus Erythematosus

Kim

Jin

et al. 2015

Journal of Immunology Research

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Gamma-aminobutyric acid receptor subunit pi (GABRP) is involved in inhibitory synaptic transmission in the central nervous system. This gene encodes multisubunit chloride channels and is also expressed in numerous nonneuronal tissues such as the uterus and the ovaries. This study was aimed to validate whether the polymorphisms in the GABRP gene are associated with the susceptibility to systematic lupus erythematosus (SLE). The genotype frequencies of the rs929763, rs732157, and rs3805455 of the GABRP gene in SLE patients were significantly different from those of the control group (P < 0.0001, P = 0.05 and 0.002, resp.). Additional analysis showed that the genotype of the rs929763 and rs3805455 of the GABRP gene were also significantly associated with female SLE patients (P < 0.0001, P = 0.005, resp.). Two haplotype frequencies including a major haplotype of GABRP SNPs were more significantly different between the SLE patients and the healthy controls (P = 0.038 and 4.2E − 24, resp.). These results suggest that the polymorphisms in the GABRP gene might be associated with the susceptibility to SLE and the haplotype of GABRP SNPs is useful genetic marker for SLE.

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TSLPR gene polymorphism is associated with systemic lupus erythematosus in the Korean population

Cited by 7 publications

References 20 publications

TSLP and TSLP receptors variants are associated with smoking

TSLP and TSLP receptors variants are associated with smoking

Bone Morphogenetic Protein 6 Polymorphisms are Associated With Systemic Lupus Erythematosus Susceptibility in the Korean Population

The Association of theGABRPPolymorphisms with Systemic Lupus Erythematosus

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