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Objective To investigate the association between endoplasmic reticulum aminopeptidase 1 (ERAP1)gene polymorphisms and psoriasis vulgaris (PsV)in a Chinese Han population. Methods Five milliliters of venous blood samples were collected from 289 patients with PsV and 292 human controls of Han nationality after informed consent. Three single nucleotide polymorphisms (SNPs)in the encoding area of the ERAP1 gene, including rs27044, rs30187 and rs26653, were genotyped by ligase detection reaction (LDR). With the PLINK 1.07 package, statistical analysis was carried out by using the chi-square test for comparisons of allele and genotype frequencies between the patient group and control group. The allelic odds ratio (OR)and its 95% confidence interval (CI)were calculated. In addition, haplotype analysis was conducted with the Haploview software. Results The frequencies of rs30187-C and rs26653-G alleles were significantly lower in the patient group (0.460 2 and 0.430 8 respectively), especially in patients with early-onset PsV(0.448 5 and 0.422 7 respectively), than in the control group(0.534 2 and 0.501 7 respectively, all P <0.05). The SNPs rs27044, rs30187 and rs26653 showed strong linkage disequilibrium with each other (r2 ≥ 0.717, D′ ≥0.962). Genotype analysis showed that the frequency of the rs30187 CC genotype was significantly lower in the patient group, especially in patients with early-onset PsV, than in the control group (P < 0.05 and 0.016 7 respectively)under a recessive mode of inheritance. Haplotype analysis revealed that the frequency of the haplotype H4: CTC was significantly increased in the patient group(0.050), especially in patients with early-onset PsV(0.052), compared with the control group (0.022, P < 0.05 and 0.016 7 respectively). Conclusions ERAP1 gene polymorphisms are associated with PsV, especially with early-onset PsV in Chinese Han population. The risk haplotype H4: CTC may be a susceptible factor for PsV.
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Objective To investigate association between polymorphisms of the tumor necrosis factor α-induced protein 3 (TNFAIP3)interacting protein 1 (TNIP1)gene and systemic lupus erythematosus (SLE)in a Chinese Han population. Methods Blood samples were collected from 284 patients with SLE of Han nationality(SLE group)and 630 healthy controls of Han nationality (control group). Ligase detection reaction (LDR)was performed to determine the genotypes of 120 single nucleotide polymorphisms (SNPs)in the TNIP1 gene. Data were analyzed with the PLINK 1.07 package and Haploview software. Results After quality control, data on 105 SNPs underwent statistical analysis finally. Four SNPs including rs3805433, rs12516176, rs6869605 and rs4958882 in the TNIP1 gene were significantly associated with SLE (OR: 1.50 - 1.53, all P < 4.72 × 104), and there was a significant increase in the frequency of rs3805433 C, rs12516176 C, rs6869605 C and rs4958882 G alleles in the SLE group (0.301 - 0.306)compared with the control group (0.221 - 0.225). There was strong linkage disequilibrium between these 4 SNPs (r2 ≥ 0.871, D′ ≥ 0.938). In addition, moderate linkage disequilibrium was observed between these 4 SNPs and a previously reported SLE-related SNP rs10036748 (r2 ≥ 0.073, D′ ≥ 0.868). The frequency of the haplotype H2: CCCGT was significantly higher in the SLE group than in the control group(0.290 vs. 0.210, OR = 1.54, P < 4.72 × 10-4). Conclusion TNIP1 gene polymorphisms are associated with SLE in Chinese Han population.
ABSTRACT
<p><b>BACKGROUND</b>Psoriasis is a common immune-mediated inflammatory dermatosis. Generalized pustular psoriasis (GPP) is the severe and rare type of psoriasis. The association between tumor necrosis factor-alpha induced protein 3 interacting protein 1 (TNIP1) gene and psoriasis was confirmed in people with multiple ethnicities. This study was to investigate the association between TNIP1 gene polymorphisms and pustular psoriasis in Chinese Han population.</p><p><b>METHODS</b>Seventy-three patients with GPP, 67 patients with palmoplantar pustulosis (PPP), and 476 healthy controls were collected from Chinese Han population. Six single nucleotide polymorphisms (SNPs) of the TNIP1 gene, namely rs3805435, rs3792798, rs3792797, rs869976, rs17728338, and rs999011 were genotyped by using polymerase chain reaction-ligase detection reaction. Statistical analyses were performed using the PLINK 1.07 package. Allele frequencies and genotyping frequencies for six SNPs were compared by using Chi-square test, odd ratio (OR) (including 95% confidence interval) were calculated. The haplotype analysis was conducted by Haploview software.</p><p><b>RESULTS</b>The frequencies of alleles of five SNPs were significantly different between the GPP group and the control group (P ≤ 7.22 × 10-3), especially in the GPP patients without psoriasis vulgaris (PsV). In the haplotype analysis, the most significantly different haplotype was H4: ACGAAC, with 13.1% frequency in the GPP group but only 3.4% in the control group (OR = 4.16, P = 4.459 × 10-7). However, no significant difference in the allele frequencies was found between the PPP group and control group for each of the six SNPs (P > 0.05).</p><p><b>CONCLUSIONS</b>Polymorphisms in TNIP1 are associated with GPP in Chinese Han population. However, no association with PPP was found. These findings suggest that TNIP1 might be a susceptibility gene for GPP.</p>
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Young Adult , Asian People , DNA-Binding Proteins , Genetics , Gene Frequency , Genetics , Genetic Predisposition to Disease , Genetics , Genotype , Polymorphism, Single Nucleotide , Genetics , Psoriasis , Epidemiology , GeneticsABSTRACT
Objective To investigate the association between polymorphisms in the tumor necrosis factor α-induced protein 3 (TNFAIP3)-interacting protein 1 (TNIP1) gene and psoriasis vulgaris in a Han population from north China.Methods Totally,465 patients with psoriasis vulgaris (PsV) and 476 healthy human controls were enrolled into the study.Five milliliters of venous blood samples were collected from these subjects after informed consent.Three single nucleotide polymorphisms (SNPs) in the TNIP1 gene,including rs17728338,rs3762999 and rs999556,were selected for genotyping with ligase detection reaction (LDR).With the PLINK 1.07 package,statistical analysis was carried out by using the chi-square test for comparisons of allele frequencies and genotype frequencies between the patient group and control group.The allelic odds ratio (OR) and its 95％ confidence interval (CI) were calculated.In addition,linkage disequilibrium analysis was performed for the three SNPs by calculating the r2 and D' values.Results There was a difference in the allele frequencies of the three SNPs between the patients with psoriasis vulgaris and controls,but the difference was statistically significant in only the allele frequencies of rs17728338,but not in those of the other two SNPs after Bonferroni correction.Under the dominant inheritance model,the genotype frequencies of the 3 SNPs all significantly differed between the patients and controls after Bonferroni correction (all P ＜ 0.016 7).Stratification analysis showed that there was a significant difference in the allele and genotype frequencies of the three SNPs between the patients with a family history and healthy controls (all P ＜ 0.016 7),and the frequency of A allele of rs17728338 was significantly lower in the controls than in the patients with psoriasis vulgaris,patients with early-onset psoriasis vulgaris (n =355),patients with late-onset psoriasis vulgaris (n =107),patients with a family history (n =68),and patients without a family history (n =394) (all P ＜ 0.0167).Strong linkage disequilibrium existed between rs3762999 and rs999556 (r2 =0.910,D' =0.982),and moderate linkage disequilibrium existed between rs17728338 and rs3762999 (r2 =0.371,D' =0.989) as well as rs999556 (r2 =0.353,D' =1).Conclusion The SNPs rs17728338,rs3762999 and rs999556 in the TNIP1 gene were associated with psoriasis vulgaris in the Chinese Han population.