Related Experiment Video
Updated: May 7, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of common variants in KIF21B and ankylosing spondylitis in a Chinese Han population: a replication study
Yongchao Liu1, Hua Zhang, Jiangxia Li
1Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, Shandong University School of Medicine, Jinan, Shandong, 250012, China.
Abstract:
KIF21B polymorphisms were found associated with susceptibility to multiple sclerosis and ankylosing spondylitis (AS) in populations of white European ancestry. We aimed to replicate the association of polymorphisms around KIF21B and AS in a Chinese Han population. This case-control study included 665 patients with AS and 1,042 healthy controls genotyped for seven single nucleotide polymorphisms (SNPs) of KIF21B--rs12118246, rs4915464, rs502658, rs10494829, rs12089839, rs6687260, and rs957957--by TaqMan genotyping assay; statistical analyses involved the use of PLINK. We also estimated the linkage disequilibrium and haplotypes of these SNPs. Two SNPs--rs502658 (allelic p = 0.0002, odds ratio [OR] 0.60, 95 % confidence interval [95 % CI] 0.47-0.76) and rs10494829 (allelic p = 0.003, OR 1.30, 95 % CI 1.12-1.52)--were significantly associated with AS in the Chinese Han population. In addition, a linear regression test showed that they have independent contribution to disease susceptibility. For both SNPs, haplotype AT was strongly associated with AS and increased the risk of the disease (p = 0.045, OR 1.183, 95 % CI 1.004-1.395), and the genotype GC reduced the risk (p = 0.011, OR 0.715, 95 % CI 0.55-0.928). This work identified a significant association of two SNPs in KIF21B and AS in the Chinese Han population. KIF21B may play an important role in the pathogenesis of AS in the Chinese population and might be a new therapeutic target for AS.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Histone Variants at the Centromere
Conservative Site-specific Recombination and Phase Variation
The recognition sites for Cre recombinase called LoxP...
NF-κB-dependent Signaling Pathway
NF-κB-dependent Signaling Mechanism
The heterodimer of NF-κB...
