Qiu X S, Tang N L S, Yeung H Y, Qiu Y, Cheng J C Y
Department of Orthopaedics, The Affiliated Drum Town Hospital of Nanjing University Medical School, Nanjing, China.
Postgrad Med J. 2008 Sep;84(995):498-501. doi: 10.1136/pgmj.2007.066639.
It has been recognised that genetic or hereditary factors may contribute to the aetiology of adolescent idiopathic scoliosis (AIS). Recently, two linkage analyses have identified 19p13.3 as the candidate region for AIS. The dipeptidyl peptidase 9 (DPP9) gene is located on chromosome 19p13.3.
To investigate whether DPP9 gene polymorphisms are associated with the occurrence or curve severity of AIS.
571 girls with AIS and 236 normal controls were recruited. Using the Chinese data from the HapMap project, a set of tagging single-nucleotide polymorphisms (tagSNPs) were defined for the DPP9 gene. Five SNPs were genotyped by PCR restriction fragment length polymorphism. Statistical analysis of genotype frequencies between cases and controls was performed by the chi2 test. One-way analysis of variance was used to compare mean maximum Cobb angles with different genotypes in case-only analysis.
Genotype frequencies were comparable between cases and controls for all five polymorphisms (p>0.05). The mean maximum Cobb angles of different genotypes were similar to each other for all five polymorphisms.
The DPP9 gene is not associated with the occurrence or curve severity of AIS. It is neither a disease-predisposition nor a disease-modifying gene of AIS.
人们已经认识到，遗传或遗传因素可能在青少年特发性脊柱侧凸（AIS）的病因学中起作用。最近，两项连锁分析已将19p13.3确定为AIS的候选区域。二肽基肽酶9（DPP9）基因位于19号染色体的p13.3位置。
研究DPP9基因多态性是否与AIS的发生或侧弯严重程度相关。
招募了571名AIS女孩和236名正常对照。利用国际人类基因组单体型图计划（HapMap）项目中的中国数据，为DPP9基因定义了一组标签单核苷酸多态性（tagSNP）。通过聚合酶链反应-限制性片段长度多态性方法对5个单核苷酸多态性进行基因分型。采用卡方检验对病例组和对照组的基因型频率进行统计学分析。在仅病例分析中，采用单因素方差分析比较不同基因型的平均最大Cobb角。
所有5种多态性的病例组和对照组之间的基因型频率相当（p>0.05）。所有5种多态性的不同基因型的平均最大Cobb角彼此相似。
DPP9基因与AIS的发生或侧弯严重程度无关。它既不是AIS的疾病易感基因，也不是疾病修饰基因。
