目的 基因多形性與結石疾病的關聯性已多次被報告。由於p16與細胞死亡相關，我們假定它與腎細胞對草酸負荷造成的細胞死亡反應並進而產生結石有關，氫氧焦葡萄糖酸鹽還原酶與乙二醛還原酶（GRHPR）是與草酸代謝且與先天性草酸鈣結石的形成有關的酵素，我們也就此討論這些基因與一般草酸鈣結石的角色做探討。方法 本研究收集101個健康正常人與143個復發的草酸鈣結石病人的去氧核醣核酸，p16基因多形性的偵測方法是以多聚合酶鏈反應為基礎的限制酶分析法， Msp I可分辨（C對偶基因可被酵素切割）位於p16基因的第三表現序列（C/G多形性）。GRHPR基因 則是第六表現序列上Bgl II內切酶（G對偶基因可被酵素切割）G/A的多形性。結果 在p16基因Msp I多形性的分佈上，結石病人的C/G異形合子是2.8%而正常對照組是5.9%結石病人的GG同源合子的對偶基因頻率是97.2%且正常人是（99.1% p = 0.326，以卡方試驗）。在GRHPR的Bgl II基因多形性方面，兩組的GG同源合子頻率均是98%（p = 1.0），對照組的異形合子是2.0%，而結石病人是1.4 %。高尿鈣症與正常尿鈣的結石病人其分佈頻率並無統計學上的差異。結論 p16基因的Msp I G/C多形性與氫氧焦葡萄糖酸鹽還原酶Bgl ll多形性均與結石疾病沒有關聯。
Background. Serial reports have shown a correlation between genetic polymorphisms and stone disease. Because the pI6 protein is related to cell death, it is presumed to be associated with the function of renal cell death in response to oxalate overload. Hydroxypyruvate reductase (HPR) and glyoxylate reducatse (GR) (GRHPR) are enzymes involved in oxalate metabolism and are related to a congenital disorder of calcium oxalate stone formation. We therefore investigated the role these genes play in the formation of calcium oxalate stone disease. Methods. A normal control group made up of 101 healthy people and 143 patients with recurrent calcium oxalate stone were examined in this study. The polymorphism was detected following the results of polymerase chain reaction based restriction analysis of Msp I ("C" allele is excisable) in the p16 gene (exon 3 C/G polymorphism). An exon 6 C/G polymorphism of the GRHPR gene as identified by BgllI endonuclease ("G" allele is excisable). Results. In the p16 gene Msp I polymorphism, the frequency of the C/G heterozygotes was2.8% in the stone group and 5.9% in the control group. The frequency of the G/G allele was 97.2% and 99.1% in the stone and control groupS respectively (p = 0.326, chi-square test). In the GRHPR gene Bgl II polymorphism, the frequency of the GG allele was over 98% in both groups (p = 1.0, Fisher's exact test). The frequency of GA heterozygotes was 2.0% in the control group and 1.4% in stone patients. The distribution showed no statistical difference between hypercalciuric and normocalciuric patients. Conclusions. Neither the p16 gene Msp I G/C polymorphism nor the GRHPR Bgl II G/ A polymorphism is associated with stone disease.
