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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Association of the C3 gene polymorphisms with susceptibility to adult asthma]
Jia-yu TAN1, Fen-xia LI, Dong WU
1Intensive Care Unit of Zhongshan Bo Ai Hospital, Southern Medical University, Zhongshan, Guangdong, 528403 P. R. China. 28242174@qq.com
Insights
The complement component 3 (C3) gene single nucleotide polymorphism rs366510 is associated with adult asthma in southern China. The TT genotype at this locus increases asthma risk, suggesting C3 as a potential factor in disease development.
Area of Science:
- Genetics
- Immunology
- Respiratory Medicine
Context:
- Asthma is a complex respiratory disease with a significant genetic component.
- The complement system, particularly complement component 3 (C3), plays a role in immune responses and inflammation.
- Understanding the genetic underpinnings of asthma is crucial for developing targeted therapies.
Purpose:
- To investigate the association between specific single nucleotide polymorphisms (SNPs) in the complement component 3 (C3) gene and adult asthma.
- To determine if C3 gene variations influence asthma susceptibility in the Han population of southern China.
Summary:
- A case-control study genotyped 484 adult asthma patients and 553 healthy controls using MassARRAY-IPLEX and MALDI-TOF-MS.
- No significant association was found for the rs10402876 locus.
- The rs366510 locus of the C3 gene showed significant differences in genotype and allele frequencies between asthma patients and controls.
- Specifically, the TT genotype at rs366510 was associated with a significantly increased risk of adult asthma (OR=1.471, 95% CI: 1.125-1.923).
Impact:
- Identifies a specific C3 gene polymorphism (rs366510) as a potential genetic risk factor for adult asthma in southern China.
- Provides evidence supporting the role of the complement system in asthma pathogenesis.
- May contribute to the development of genetic screening tools or personalized treatment strategies for asthma.
Objective:
To investigate the association between single nucleotide polymorphisms (SNPs) of the complement component 3 gene (C3) and adult asthma of Hans in southern China.
Methods:
A case-control study was performed. Four hundred and eighty-four adult asthma patients diagnosed in Nanfang Hospital and Affiliated Hospital of Guangdong Medical College, and 553 healthy subjects were collected from 2006 to 2010 for the study. MassARRAY-IPLEX and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) techniques was used to determine the genotypes of the rs10402876 and rs366510 loci of C3 gene.
Results:
Genotypes GG, GT and TT in the rs366510 locus, and genotypes GG, GT and TT in the rs10402876 locus were detected. A total of 98.94 percent of samples were genotyped. There were no significant differences in genotype frequencies (chi-square =0.346,P=0.841) and allele frequencies (chi-square =0.101,P=0.751) of rs10402876 between the two groups. However, genotype and allele frequencies of the rs366510 locus were significantly different (chi-square =9.759, P=0.008, Bonferroni correction, P=0.016; chi-square =5.294,P=0.021, Bonferroni correction, P=0.042, respectively). Compared with genotypes GG+GT, genotype TT of rs366510 significantly increased the risk of asthma, with the odds ratio of 1.471 (95% confidence interval 1.125-1.923).
Conclusion:
These results suggest that C3 gene could be associated with adult asthma of Han population in southern China.
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