Liu Bingli, Li Zirong, Sun Wei, Wang Bailiang, Shi Shaohui, Min Hongwei
Graduate College of Peking Union Medical College, 100730, PR China.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2009 Sep;23(9):1079-82.
To explore the relationship between alcohol induced osteonecrosis of the femoral head (ONFH) and the single nucleotide polymorphisms (SNP) of methylene tetrahydrofolate reductase (MTHFR) 677 C/T.
From July 2005 to May 2008, eighty-nine male patients with alcohol induced ONFH were selected as the patient group, aged from 24 to 58 years old (mean 44.3 years old). The time of drinking was about 17 years, 375 mL/day. The imaging evidence showed ONFH with no other history associated to ONFH. Seventy-seven male healthy adults were selected as the control group, aged from 23 to 52 years old (mean 42.7 years old). The time of drinking was about 14 years, 335 mL/day. The imaging evidence showed no ONFH. The 2 mL blood sample was acquired from every subject. DNA was purified from leucocyte at first, then was implicated by PCR, the product of PCR was sequenced at last. The SNP of MTHFR 677 C/T was analyzed with SPSS 12.0 software package.
The TT genotype and T allele frequencies of MTHFR 677 C/T were 27.2% and 52.0% (P > 0.05) in the control group, and the distribution of genotype was consistent with Hardy-Weinberg equilibrium. The genotype frequencies of CC, CT and TT were 23.4% (18 cases), 49.4% (38 cases) and 27.2% (21 cases) in the control group, were 14.6% (13 cases), 36.0% (32 cases) and 49.4% (44 cases) in the patient group; showing statistically significant differences (P < 0.05). The allele frequencies of C and T were 48.0% (74) and 52.0% (80) in the control group, and were 32.6% (58) and 67.4% (120) in the patient group; showing statistically significant differences (P < 0.05). The frequencies of C, T alleles and TT genotype were higher in the patient group than in the control group, showing statistically significant differences (P < 0.05). The odds ratios were 0.523, 1.914 and 2.607, respectively; the 95% confidence interval were 0.335-0.816, 1.226-2.987, 1.359-5.001, respectively.
The relationship may exist between the SNP of MTHFR 677 C/T and alcohol induced ONFH.
探讨酒精性股骨头坏死（ONFH）与亚甲基四氢叶酸还原酶（MTHFR）677 C/T单核苷酸多态性（SNP）之间的关系。
选取2005年7月至2008年5月间89例酒精性ONFH男性患者作为患者组，年龄24至58岁（平均44.3岁）。饮酒时间约17年，每日饮酒量375 mL。影像学证据显示为ONFH，无其他与ONFH相关的病史。选取77例男性健康成年人作为对照组，年龄23至52岁（平均42.7岁）。饮酒时间约14年，每日饮酒量335 mL。影像学证据显示无ONFH。采集每位受试者2 mL血液样本。首先从白细胞中提取DNA，然后进行PCR扩增，最后对PCR产物进行测序。采用SPSS 12.0软件包分析MTHFR 677 C/T的SNP。
对照组中MTHFR 677 C/T的TT基因型和T等位基因频率分别为27.2%和52.0%（P>0.05），基因型分布符合Hardy-Weinberg平衡。对照组中CC基因型、CT基因型和TT基因型频率分别为23.4%（18例）、49.4%（38例）和27.2%（21例），患者组分别为14.6%（13例）、36.0%（32例）和49.4%（44例）；差异有统计学意义（P<0.05）。对照组中C和T等位基因频率分别为48.0%（74）和52.0%（80），患者组分别为32.6%（58）和67.4%（120）；差异有统计学意义（P<0.05）。患者组中C、T等位基因及TT基因型频率高于对照组，差异有统计学意义（P<0.05）。比值比分别为0.523、1.914和2.607；95%置信区间分别为0.335 - 0.816、1.226 - 2.987、1.359 - 5.001。
MTHFR 677 C/T的SNP与酒精性ONFH之间可能存在关联。
