A Promoter Region Polymorphism inPDCD-1Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China

Objective. Programmed cell death 1 (PD-1) induces negative signals to T cells during interaction with its ligands and is therefore a candidate gene in the development of autoimmune diseases such as rheumatoid arthritis (RA). Herein, we investigate the association ofPDCD-1polymorphisms with the risk of RA among Chinese patients and healthy controls.Methods. Using the PCR-direct sequencing analysis, 4PDCD-1SNPs (rs36084323, rs11568821, rs2227982, and rs2227981) were genotyped in 320 RA patients and 309 matched healthy controls. Expression of PD-1 was determined in peripheral blood lymphocytes by flow cytometry and quantitative real-time reverse transcriptase polymerase chain reaction.Results. We observed that the GG genotype of rs36084323 was associated with a increased risk for developing RA (OR 1.70, 95% 1.11–2.61,P=0.049). Patients carrying G/G genotype displayed an increased mRNA level of PD-1(P=0.04)compared with A/A genotype and healthy controls. Meanwhile, patients homozygous for rs36084323 had induced basal PD-1 expression on activated CD4+ T cells.Conclusion. ThePDCD-1polymorphism rs36084323 was significantly associated with RA risk in Han Chinese population. This SNP, which effectively influenced the expression of PD-1, may be a biomarker of early diagnosis of RA and a suitable indicator of utilizing PD-1 inhibitor for treatment of RA.

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Association of the CD11b rs1143679 polymorphism with systemic lupus erythematosus in the Han Chinese population

Journal of International Medical Research ◽

10.1177/0300060517719210 ◽

2017 ◽

Vol 46 (3) ◽

pp. 1008-1014 ◽

Cited By ~ 5

Author(s):

Chunmei Li ◽

Fengqing Tong ◽

Yi Ma ◽

Kai Qian ◽

Junyu Zhang ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Chinese Population ◽

Direct Sequencing ◽

Disease Onset ◽

Clinical Manifestations ◽

Han Chinese ◽

Chinese Patients ◽

Systemic Lupus ◽

Han Chinese Population

Objective To investigate the association of the CD11b single nucleotide polymorphism (SNP) rs1143679 with systemic lupus erythematosus (SLE) in Han Chinese patients, and to clarify this association with SLE clinical manifestations. Methods PCR–restriction fragment length polymorphism and direct sequencing of CD11b rs1143679 were conducted in 584 patients with SLE and 628 healthy controls in this case–control study to compare genotype and allele frequency distributions. Correlations between CD11b genotypes and clinical manifestations were also determined. Results The frequency of the CD11b rs1143679 GA genotype was 1.89% in Han Chinese patients with SLE, which was much lower than that of European and American populations, but close to the frequency observed in individuals from Hong Kong and Thailand. The CD11b rs1143679 GA genotype was also shown to confer susceptibility to SLE (odds ratio = 4.00, 95% confidence interval = 1.11–14.41). CD11b rs1143679 was found to be significantly associated with nephritis, but not with age of disease onset, arthritis, hematological involvement, or neural lesions. Conclusion CD11b rs1143679 appears to be associated with risk for SLE in the Han Chinese population, and may play an important role in the development of lupus nephritis.

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The role of genetic variants in FCGR2A on the risk of rheumatoid arthritis in the Han Chinese population

10.21203/rs.3.rs-63617/v1 ◽

2020 ◽

Author(s):

Yonghui Yang ◽

Linna Peng ◽

Chunjuan He ◽

Shishi Xing ◽

Dandan Li ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Chinese Population ◽

Joint Damage ◽

Han Chinese ◽

Nucleotide Polymorphisms ◽

Male Population ◽

Han Chinese Population ◽

Increased Risk ◽

Chinese Cohort

Abstract Background: Rheumatoid arthritis (RA) is the most common inflammatory arthritis and is characterized by irreversible joint damage and deformities, which is largely caused by genetic factors. The aim of this study was to explore the role of FCGR2A polymorphisms with the susceptibility to RA in the Han Chinese cohort.Methods: We enrolled 506 RA patients and 509 healthy controls, with four single nucleotide polymorphisms (SNPs) successfully genotyped using Agena MassARRAY. Genetic models, haplotype analyses were applied to assess the association between FCGR2A polymorphisms and RA. And we evaluated the relative risk by odds ratios (ORs) and 95% confidence intervals (95% CIs) using logistic regression analysis.Results: The results revealed that FCGR2A rs6668534 was significantly related to an increased risk of RA in the overall (OR = 1.24, 95%CI = 1.04 – 1.48, p = 0.014). There was no any association found between the polymorphisms and RA risk at age > 54 years, while the two (rs6671847 and rs1801274) of the four SNPs possibly contributed to the susceptibility to RA at age ≤ 54 years. And the rs6668534 polymorphism conferred the increased susceptibility to RA in the male population. The haplotypes in the FCGR2A gene was significantly associated with the RA risk.Conclusions: Our research have demonstrated that the FCGR2A gene polymorphisms (rs6671847, rs1801274 and rs6668534) were implicated in RA susceptibility in the Han Chinese population.

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Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population

Scientific Reports ◽

10.1038/s41598-021-81391-5 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Yanmei Ruan ◽

Jinwei Zhang ◽

Shiqi Mai ◽

Wenfeng Zeng ◽

Lili Huang ◽

...

Keyword(s):

Hearing Loss ◽

Chinese Population ◽

Conditional Logistic Regression ◽

Han Chinese ◽

Control Group ◽

Environment Interaction ◽

Noise Induced Hearing Loss ◽

Han Chinese Population ◽

Hearing Thresholds ◽

Increased Risk

AbstractGenetic factors and gene-environment interaction may play an important role in the development of noise induced hearing loss (NIHL). 191 cases and 191 controls were selected by case–control study. Among them, case groups were screened from workers exposed to noise in binaural high-frequency hearing thresholds greater than 25 dB (A). Workers with hearing thresholds ≤ 25 dB (A) in any binaural frequency band were selected to the control group, based on matching factors such as age, exposure time to noise, and operating position. The blood samples from two groups of workers were subjected to DNA extraction and SNP sequencing of CASP3 and CASP7 genes using the polymerase chain reaction ligase detection reaction method. Conditional logistic regression correction was used to analyze the genetic variation associated with susceptibility to NIHL. There was an association between rs2227310 and rs4353229 of the CASP7 gene and the risk of NIHL. Compared with the GG genotype, the CC genotype of rs2227310 reduced the risk of NIHL. Compared with CC genotype, the TT genotype of rs4353229 reduced the risk of NIHL. Workers carrying the rs2227310GG and rs4353229CC genotype had an increased risk of NIHL compared to workers without any high-risk genotype. There were additive interaction and multiplication interaction between CASP7rs2227310 and CNE, and the same interaction between CASP7rs4353229 and CNE. The interaction between the CASP7 gene and CNE significantly increased the risk of NIHL. The genetic polymorphisms of CASP7rs2227310GG and CASP7rs4353229CC were associated with an increased risk of NIHL in Han Chinese population and have the potential to act as biomarkers for noise-exposed workers.

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The ANGPTL8 rs2278426 (C/T) Polymorphism Is Associated with Prediabetes and Type 2 Diabetes in a Han Chinese Population in Hebei Province

International Journal of Endocrinology ◽

10.1155/2020/1621239 ◽

2020 ◽

Vol 2020 ◽

pp. 1-8

Author(s):

Guangsen Hou ◽

Yong Tang ◽

Luping Ren ◽

Yunpeng Guan ◽

Xiaoyu Hou ◽

...

Keyword(s):

Type 2 Diabetes ◽

Chinese Population ◽

Han Chinese ◽

Hebei Province ◽

Control Group ◽

Chi Square ◽

Han Chinese Population ◽

Increased Risk ◽

Bonferroni Test

Background. Our aim was to investigate the association between the genetics of the angiopoietin protein-like 8 (ANGPTL8) rs2278426 (C/T) polymorphism with prediabetes (pre-DM) and type 2 diabetes (T2DM) in a Han Chinese population in Hebei Province, China. Methods. We enrolled 1,460 participants into this case-control study: healthy controls, n = 524; pre-DM, n = 460; and T2DM: n = 460. Ligase assays on blood samples from all participants were used to identify polymorphisms. Differences in genotype and allele distributions were compared by the chi-square test and one-way analysis of variance, and a post hoc pairwise analysis was performed using the Bonferroni test. The logistic regression technique was adjusted for age, sex, and body mass index. Results. The frequency of the TT (10.9%) genotype was significantly higher in pre-DM patients than in controls (odds ratio [OR] = 1.696, 95% confidence interval [CI] = 1.026–2.802, P = 0.039 ). In the T2DM group, the CT (48%) and TT (15%) genotypes were significantly higher compared with those in the control group (CT : OR = 1.384, 95% CI = 1.013–1.890, P = 0.041 ; TT : OR = 2.530, 95% CI = 1.476–4.334, P = 0.001 ). The frequency of the T allele was significantly higher in the pre-DM (32.8%) and T2DM (39%) groups compared with the control group (26.9%) and was significantly associated with an increased risk of pre-DM (OR = 1.253, 95% CI = 1.017–1.544, P = 0.034 ) and T2DM (OR = 1.518, 95% CI = 1.214–1.897, P = 0.001 ). Furthermore, insulin levels in the pre-DM and T2DM groups were significantly decreased in those with the TT genotype compared with the CC and CT genotypes. Conclusion. ANGPTL8 rs2278426 may be involved in the mechanism of insulin secretion and could lead to an increased risk of pre-DM and T2DM.

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