Cheng Ning, Cai Qing, Fang Meng, Duan Shiwei, Lin Jingan, Hu Jianda, Chen Ruiwen, Sun Shuhan
Department of Medical Genetics, Second Military Medical University, 800 Xiangyin Road, 200433, Shanghai, People's Republic of China.
Rheumatol Int. 2009 Jan;29(3):305-10. doi: 10.1007/s00296-008-0670-0. Epub 2008 Sep 4.
The aim of this study was to investigate the association of single nucleotide polymorphisms (SNPs) in tissue non-specific alkaline phosphatase (TNAP) with ankylosing spondylitis (AS) in the Chinese Han population. We carried out both case-control studies in two independent Chinese AS cohorts (Eastern Chinese, Southeastern Chinese) involving 353 AS patients and 514 unrelated healthy controls and family-based association study involving 57 pedigrees. Two TNAP intronic SNPs rs3767155 (G/A), and rs1780329 (G/T) and 1 exonic variant rs3738099 (A/G) were genotyped using direct DNA sequencing method. The results showed that there was no significant difference in allele, genotype or haplotype frequencies between the AS patients and the controls at the three SNPs in either case-control or family-based association study, which indicated that the TNAP gene was unlikely to play a major role in the susceptibility to AS in the Chinese Han population.
本研究旨在探讨中国汉族人群中组织非特异性碱性磷酸酶（TNAP）单核苷酸多态性（SNP）与强直性脊柱炎（AS）的关联。我们在两个独立的中国AS队列（中国东部、中国东南部）中开展了病例对照研究，涉及353例AS患者和514名无关健康对照，并进行了基于家系的关联研究，涉及57个家系。采用直接DNA测序法对两个TNAP内含子SNP rs3767155（G/A）、rs1780329（G/T）和1个外显子变异rs3738099（A/G）进行基因分型。结果显示，在病例对照研究或基于家系的关联研究中，AS患者与对照在这三个SNP的等位基因、基因型或单倍型频率上均无显著差异，这表明TNAP基因在中国汉族人群AS易感性中不太可能起主要作用。
