Nkeck Jan René, Singwé Ngandeu Madeleine, Ama Moor Vicky, Nkeck Jériel Pascal, Chedjou Jean-Pierre, Ndoadoumgue Aude Laetitia, Mbacham Wilfred F
Faculty of Medicine and Biomedical Sciences, The University of Yaoundé I, Yaoundé, Cameroon.
Rheumatology Unit of the Yaoundé Central Hospital, Yaoundé, Cameroon.
BMC Res Notes. 2018 Apr 3;11(1):230. doi: 10.1186/s13104-018-3333-6.
To determine the association of non-synonymous variants rs2280205 and rs2276961 of the SLC2A9 gene to gout in Cameroonians.
In a case-control study including 30 patients with acute gout matched to 30 healthy volunteers. We searched for polymorphism of the targeted variants using Restriction Fragment Length Polymorphism following polymerize chain reaction. Fisher exact test and Student t-test were used to compare variables, with a threshold of significance set at 0.05. The mean age of participants was 58 ± 8 years with 28 (93%) males. The family history of gout was found in one-third of the cases (p > 0.05). Uricemia was higher in cases than controls (p < 0.001) but 24 h urate excretion was similar in both groups (p > 0.05). Ancestral alleles (G and C) and their homozygous genotypes (GG and CC) of the targeted variants were predominant in both groups (p < 0.001). The polymorphisms of targeted variants were not associated with gout, and do not influence uric acid concentration in blood and urine. Non-synonymous variants rs2280205 and rs2276961 are not associated with gout in Cameroonians. However, the hereditary component of the disease suggests the influence of other genetic and/or environmental factors.
确定SLC2A9基因的非同义变体rs2280205和rs2276961与喀麦隆人痛风的关联。
在一项病例对照研究中，纳入了30例急性痛风患者，并与30名健康志愿者进行匹配。我们在聚合酶链反应后使用限制性片段长度多态性来寻找目标变体的多态性。采用Fisher精确检验和Student t检验比较变量，显著性阈值设定为0.05。参与者的平均年龄为58±8岁，其中28名（93%）为男性。三分之一的病例有痛风家族史（p>0.05）。病例组的血尿酸水平高于对照组（p<0.001），但两组的24小时尿酸排泄量相似（p>0.05）。目标变体的祖先等位基因（G和C）及其纯合基因型（GG和CC）在两组中均占主导地位（p<0.001）。目标变体的多态性与痛风无关，也不影响血液和尿液中的尿酸浓度。非同义变体rs2280205和rs2276961与喀麦隆人的痛风无关。然而，该疾病的遗传成分提示了其他遗传和/或环境因素的影响。
