Alghasham Abdullah, Settin Ahmad A, Ali Ahmad, Dowaidar Moataz, Ismail Hisham
Molecular Biology Research Center, College of Medicine, Qassim University, Saudi Arabia ; Department of Pharmacology, College of Medicine, Qassim University, Saudi Arabia.
Int J Health Sci (Qassim). 2012 Jan;6(1):3-11. doi: 10.12816/0005968.
To check for the association of genetic polymorphisms related to the methylenetetrahydrofolate reductase (MTHFR) gene namely C677T and A1298C with hypertension in Saudi affected subjects from Qassim region.
Participants included 123 Saudi hypertensive cases (83 males and 40 females) in addition to 250 (142 males and 108 females) unrelated healthy controls from the same locality. Their age mean ±SD was 50.93 ± 15.43 years. For all subjects, DNA was extracted followed by real-time PCR amplifications for characterization of genotypes and alleles related to MTHFR C677T and A1298C gene polymorphisms
Total cases showed significantly higher carriage rate for the mutant allele 677T compared to controls (40.7% vs. 26%, OR=1.9, 95% CI= 1.2-3.1) with a lower frequency of the wild type 677CC genotype (59.3% vs. 74%, p=0.004). The same was observed among cases-subgroups of hypertension associated with obesity with a notably higher odds ratio (OR=2.6, 95% CI=1.3-5.01, p=0.004). Total cases showed also significantly higher frequency of mutant 1298 C allele carriage rate compared to controls (59.3% vs. 42.4%, OR=1.98, 95% CI= 1.3-3.1) with a lower frequency of the normal AA genotype (40.7% vs. 57.6%, p=0.003). The same was observed among cases-subgroups of hypertension associated with both diabetes and obesity and among cases of hypertension with obesity, also with higher odds ratio (OR=2.6 and 2.2 respectively).
This work showed that genetic polymorphisms related to the MTHFR gene are associated with the risk of hypertension particularly when accompanied with obesity and diabetes among Saudi subjects.
在沙特卡西姆地区的高血压患者中，检测亚甲基四氢叶酸还原酶（MTHFR）基因的C677T和A1298C相关基因多态性与高血压之间的关联。
参与者包括123例沙特高血压患者（83例男性和40例女性），以及来自同一地区的250例（142例男性和108例女性）无关健康对照。他们的年龄均值±标准差为50.93±15.43岁。对所有受试者提取DNA，随后进行实时PCR扩增，以鉴定与MTHFR C677T和A1298C基因多态性相关的基因型和等位基因。
与对照组相比，所有病例中突变等位基因677T的携带率显著更高（40.7%对26%，比值比=1.9，95%置信区间=1.2 - 3.1），野生型677CC基因型的频率较低（59.3%对74%，p = 0.004）。在与肥胖相关的高血压病例亚组中也观察到同样情况，且比值比显著更高（比值比=2.6，95%置信区间=1.3 - 5.01，p = 0.004）。与对照组相比，所有病例中突变的1298C等位基因携带率也显著更高（59.3%对42.4%，比值比=1.98，95%置信区间=1.3 - 3.1），正常AA基因型的频率较低（40.7%对57.6%，p = 0.003）。在与糖尿病和肥胖相关的高血压病例亚组以及肥胖型高血压病例中也观察到同样情况，且比值比也更高（分别为比值比=2.6和2.2）。
这项研究表明，与MTHFR基因相关的基因多态性与沙特受试者患高血压的风险相关，尤其是在伴有肥胖和糖尿病时。
