The Association of LRP5 Gene Polymorphisms with Ankylosing Spondylitis in a Chinese Han Population

2011 ◽  
Vol 38 (12) ◽  
pp. 2616-2618 ◽  
Author(s):  
JIANMIN LIU ◽  
XIAOYAN ZHOU ◽  
ZHENXING SHAN ◽  
JIGUO YANG ◽  
QINGRUI YANG ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Multiple Testing ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Multiple Testing Correction ◽  
Chinese Han ◽  
Han Population ◽  
Male Predominance

Objective.To clarify the association between polymorphisms of low-density lipoprotein receptor-related protein 5 (LRP5) with ankylosing spondylitis (AS) in a Chinese Han population.Methods.Sixteen patients with AS were recruited for preliminary screening through gene sequencing. Then 14 single-nucleotide polymorphisms (SNP) of LRP5 were followed up in 296 patients and 170 controls.Results.Sequencing the LRP5 showed 24 SNP including 3 novel SNP [LRP5SNP1 (c.-1596T > C), LRP5SNP2 (c.3764-30G > A), and LRP5SNP3 (c.4488+74G > A)]. Validation of SNP showed that the LRP5SNP3 were associated with AS after multiple testing correction (allele Pc = 0.0087, genotype Pc = 0.0316, haplotype AGA, Pc = 0.0051, OR = 2.54 and haplotype AGG, Pc = 0.048, OR = 0.63, respectively). The SNP rs686921 was associated with male predominance in both patients with AS (p = 0.032, OR 1.54) and controls (p = 0.014, OR 1.94).Conclusion.LRP5 may be involved in the pathogenesis of AS. Further study will be required to clarify the effect of LRP5 on the pathogenic mechanism of AS.

Evidence for Genetic Association of CARD9 and SNAPC4 with Ankylosing Spondylitis in a Chinese Han Population

2013 ◽  
Vol 41 (2) ◽  
pp. 318-324 ◽  
Author(s):  
Xiaochun Ma ◽  
Yongchao Liu ◽  
Hua Zhang ◽  
Rongfang Qiu ◽  
Hailing Zhao ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Mrna Expression ◽  
Genome Wide Association Study ◽  
Chinese Han Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
A Genome ◽  
Increased Risk

Objective.A genome-wide association study and 2 replication studies identified 2 single-nucleotide polymorphisms (SNP) of caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) at Chr 9q34.3 associated with ankylosing spondylitis (AS) in whites. We explored a possible association of SNP in CARD9 and SNAPC4 and AS in a Chinese Han population from Shandong.Methods.The study included 1150 patients with AS and 1120 healthy controls who underwent genotyping for 4 SNP of CARD9 and 2 of SNAPC4; we replicated the results in another 490 patients and 380 healthy controls of Ningxia Han Chinese during the same time. We used quantitative real-time PCR (qRT-PCR) to measure CARD9 and SNAPC4 mRNA expression in peripheral leukocytes from 44 patients and 36 controls and allele-specific mRNA expression of CARD9 and SNAPC4 in leukocytes from 130 controls.Results.We validated that an SNP in SNAPC4, rs11145835, was significantly associated with AS in our Chinese Han population (p = 0.001) and replicated the association in samples from the Chinese Ningxia Han population (p = 0.002). Carrying the G allele of rs11145835 was associated with increased risk of AS (OR 1.34, 95% CI 1.12–1.59) and with decreased expression of CARD9 (p = 0.001) and SNAPC4 (p = 0.02) in leukocytes. SNAPC4 mRNA expression was lower in leukocytes from patients than from controls (p = 0.0002).Conclusion.Our study confirmed that an SNP rs11145835 in 9q34.3 that harbors CARD9 and SNAPC4 is associated with AS in a Chinese Han population, and rs11145835 in SNAPC4 is a potential causal variant.

scholarly journals MMP-8 single-nucleotide polymorphisms are related to ankylosing spondylitis in Chinese Han population

Medicine ◽  
2018 ◽  
Vol 97 (35) ◽  
pp. e12136 ◽  
Author(s):  
Chenyang Meng ◽  
Rui Bai ◽  
Zhenqun Zhao ◽  
Guimei Huang ◽  
Tianbo Jin ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population

Association of KIF21B genetic polymorphisms with ankylosing spondylitis in a Chinese Han population of Shandong Province

2014 ◽  
Vol 34 (10) ◽  
pp. 1729-1736 ◽  
Author(s):  
Xinglin Yang ◽  
Ming Li ◽  
Liya Wang ◽  
Zhongdan Hu ◽  
Yuanchao Zhang ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Genetic Polymorphisms ◽  
Shandong Province ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population

scholarly journals Effects of in IL-1B/IL-1RN variants on the susceptibility to head and neck cancer in a chinese Han population

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yanhai Yin ◽  
Fen Li ◽  
Liangqian Tong ◽  
Chunru Chen ◽  
Bo Yuan
Keyword(s):  
Logistic Regression ◽  
Head And Neck Cancer ◽  
Head And Neck ◽  
Genetic Association ◽  
Neck Cancer ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Logistic Regression Models

Abstract Background The study aimed to evaluate the relationship of IL-1B/IL-1RN polymorphisms to the predisposition of head and neck cancer (HNC) in a Chinese Han population. Methods Nine single-nucleotide polymorphisms (SNPs) in IL-1B/IL-1RN were genotyped based on Agena MassARRAY platform. Logistic regression models were used to analyze the genetic association between these SNPs and HNC risk by calculating odds ratios (ORs) and 95% confidence intervals (CI). Haplotype analysis were performed using Haploview program and logistic regression model. Results The genetic association between rs1143643 in IL-1B and the higher risk of HNC was found (OR = 1.23, 95% CI 1.04–1.46) in the overall. IL-1RN rs17042888 was related to a reduced risk of HNC in the subjects aged > 46 years (OR = 0.70, 95% CI: 0.50–0.98) and in females (OR = 0.71, 95% CI 0.52–0.98), while rs1143643 increased the predisposition of HNC among females (OR = 1.76, 95% CI 1.13–2.74). Furthermore, rs1143643 had an increased susceptibility to thyroid carcinoma (OR = 1.61, 95% CI 1.10–2.34). Moreover, compared with stage I–II, the frequency of IL-1RN rs452204-AG genotype was lower in patients with stage III–IV. Conclusions IL-1B (rs1143643) and IL-1RN (rs17042888 and rs452204) polymorphisms might be related to the individual susceptibility of HNC in the Chinese Han population. These results might help to improve the understanding of IL-1B and IL-1RN genes in the occurrence of HNC.

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