Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population

Xia, Ke; Song, Shanghua; Wang, Xiaoqiang; Shen, Yang; Kang, Hou‐Yong; Hong, Suling

doi:10.1016/j.humimm.2016.11.008

Cited by 6 publications

(3 citation statements)

References 32 publications

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“…Ke Xia aimed to evaluate the potential association between gene SNP and AR in Han population. His results showed that it was significantly related to AR risk in Han population ( Ke et al, 2017 ). The above studies all described the relationship between SNP and AR, but there are still some deficiencies in genetic research.…”

Section: Introductionmentioning

confidence: 99%

Relationship between single nucleotide polymorphism of NOS2 gene and inheritance of allergic rhinitis in children

Zhao²,

Huang³

et al. 2023

Front. Genet.

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Allergic rhinitis is a common chronic disease, and its high incidence has a great negative impact on the quality of life of many people, especially children. In this paper, through in-depth analysis of NOS2 gene polymorphism, the protective mechanism of NOS2 gene against AR was studied to provide theoretical and scientific basis for the diagnosis of children with AR. It was concluded that the concentration of Immunoglobulin E (IgE) in rs2297516 was 0.24 IU/mL compared with that in normal children. rs3794766 specific IgE concentration in the children group was increased by 0.36 IU/mL, which was higher than that in the healthy children group; the difference of rs7406657 specific IgE concentration between the children group and the healthy group was 0.03 IU/mL. The total serum IgE concentration in the healthy children group was lower than that in the infant group, and the change of Rs3794766 was the least, followed by rs2297516 and rs7406657. This means that rs7406657 is the highest, rs2297516 had general genetic correlation with AR patients, and rs3794766 had the least genetic correlation with AR patients. Among the three groups of SNP loci, the healthy children group was higher than the patient children group, indicating that AR reduces the gene frequency of the three loci, and the reduction of gene frequency will also increase the susceptibility of children to AR, because the frequency of gene occurrence will affect the gene sequence. In conclusion, smart medicine and gene SNPS can promote the detection and treatment of AR.

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Section: Introductionmentioning

confidence: 99%

Relationship between single nucleotide polymorphism of NOS2 gene and inheritance of allergic rhinitis in children

Zhao²,

Huang³

et al. 2023

Front. Genet.

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“…Interestingly, later reports often found a close association of rs1310182 with various autoimmune diseases but disagreed on which allele is associated with the disease. The risk allele was C in Japanese patients with type 1 diabetes mellitus [ 14 ], Han Chinese patients with allergic rhinitis [ 15 ], Norwegian patients with rheumatoid arthritis [ 16 ], and Iranian patients with juvenile idiopathic arthritis [ 17 ], systemic lupus erythematosus [ 18 ] (in this study, the table with results refers to C as the disease-associated allele, whereas the text refers to T as the disease-associated variant), and ulcerative colitis [ 19 ]. The risk allele was T in patients of European descent with rheumatoid arthritis [ 13 ] or late-onset autoimmune diabetes of adults (LADA) [ 20 ] and patients of Iranian descent with celiac disease [ 21 ] and chronic spontaneous urticaria [ 22 ].…”

Section: Introductionmentioning

confidence: 99%

PTPN22 intron polymorphism rs1310182 (c.2054-852T>C) is associated with type 1 diabetes mellitus in patients of Armenian descent

Žak,

Navasardyan,

Hunák

et al. 2023

PLoS ONE

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Protein tyrosine phosphatase, nonreceptor type 22 (PTPN22), is an archetypal non-HLA autoimmunity gene. It is one of the most prominent genetic contributors to type 1 diabetes mellitus outside the HLA region, and prevalence of its risk variants is subject to enormous geographic variability. Here, we address the genetic background of patients with type 1 diabetes mellitus of Armenian descent. Armenia has a population that has been genetically isolated for 3000 years. We hypothesized that two PTPN22 polymorphisms, rs2476601 and rs1310182, are associated with type 1 diabetes mellitus in persons of Armenian descent. In this association study, we genotyped the allelic frequencies of two risk-associated PTPN22 variants in 96 patients with type 1 diabetes mellitus and 100 controls of Armenian descent. We subsequently examined the associations of PTPN22 variants with the manifestation of type 1 diabetes mellitus and its clinical characteristics. We found that the rs2476601 minor allele (c.1858T) frequency in the control population was very low (q = 0.015), and the trend toward increased frequency of c.1858CT heterozygotes among patients with type 1 diabetes mellitus was not significant (OR 3.34, 95% CI 0.88–12.75; χ2 test p > 0.05). The control population had a high frequency of the minor allele of rs1310182 (q = 0.375). The frequency of c.2054-852TC heterozygotes was significantly higher among the patients with type 1 diabetes mellitus (OR 2.39, 95% CI 1.35–4.24; χ2 test p < 0.001), as was the frequency of the T allele (OR 4.82, 95% CI 2.38–9.76; χ2 test p < 0.001). The rs2476601 c.1858CT genotype and the T allele correlated negatively with the insulin dose needed three to six months after diagnosis. The rs1310182 c.2054-852CC genotype was positively associated with higher HbA1c at diagnosis and 12 months after diagnosis. We have provided the first information on diabetes-associated polymorphisms in PTPN22 in a genetically isolated Armenian population. We found only a limited contribution of the prototypic gain-of-function PTPN22 polymorphism rs2476601. In contrast, we found an unexpectedly close association of type 1 diabetes mellitus with rs1310182.

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“…The heritability of AR has been estimated to be >65% (13,14). A number of studies have suggested that sequence polymorphisms in multiple genes and regions are associated with an increased risk of AR (15)(16)(17)(18)(19)(20)(21)(22), although another study has reported the poor reproducibility of single-nucleotide polymorphism (SNP) associations with this disease (23). Nevertheless, certain genetic variations that have been associated with AR support the hypothesized…”

Section: Introductionmentioning

confidence: 99%

Single‑nucleotide polymorphisms and haplotypes in the interleukin‑33 gene are associated with a risk of allergic rhinitis in the Chinese population

Zhou

Guo

et al. 2020

Exp Ther Med

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Allergic rhinitis (AR) is a common upper airway disease attributed to a variety of risk factors, such as environmental exposures and genetic susceptibility. The commonly observed comorbidity of asthma and AR in the clinic suggests the presence of shared genetic risk factors and biological mechanisms between these diseases. Interleukin (IL)-33 has been indicated to be an important factor driving asthma susceptibility and pathogenesis using both genome-wide association studies and functional studies in model animals. Although previous studies have reported the putative association of this gene with AR, evidence for the association of genetic variations of IL-33 with the disease is still missing. To examine whether variations in the IL-33 gene confer a genetic risk of AR, a total of 769 patients with AR and 769 age-and sex-matched healthy controls were recruited among Han Chinese residents in the Hubei province, and 14 single-nucleotide polymorphisms (SNPs) spanning the IL-33 gene were examined for their association with the risk of AR. The results indicated that five SNPs, which were in a moderate linkage disequilibrium and were located in the 5'-flanking region of IL-33, exhibited significant associations with the risk of AR, and these associations were additionally supported by genotypic and haplotypic analyses. Notably, three of the five IL-33 SNPs have been previously reported to exhibit genome-wide associations with asthma, and their alleles were also revealed to confer an increased risk of AR in the present study. In summary, the results of the current study suggested that certain variations in the IL-33 gene represent a potential risk for AR, and indicated a shared genetic basis between AR and asthma.

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Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population

Cited by 6 publications

References 32 publications

Relationship between single nucleotide polymorphism of NOS2 gene and inheritance of allergic rhinitis in children

Relationship between single nucleotide polymorphism of NOS2 gene and inheritance of allergic rhinitis in children

PTPN22 intron polymorphism rs1310182 (c.2054-852T>C) is associated with type 1 diabetes mellitus in patients of Armenian descent

Single‑nucleotide polymorphisms and haplotypes in the interleukin‑33 gene are associated with a risk of allergic rhinitis in the Chinese population

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