Fernández-Torres Javier, Zamudio-Cuevas Yessica, Martínez-Nava Gabriela Angélica, Martínez-Flores Karina, Ruíz-Dávila Xiadani, Sánchez-Sánchez Roberto
Synovial Fluid Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico.
Biology Department, Facultad de Química, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico.
Mol Biol Rep. 2023 May;50(5):4367-4374. doi: 10.1007/s11033-023-08359-8. Epub 2023 Mar 21.
Gout is the most common inflammatory rheumatic disease and elevated levels of serum urate (SU) are the main cause for its development. Major histocompatibility complex class 1 (MHC-1) plays an important role in the development of multiple inflammatory diseases; however, there is little evidence of its involvement in gout. The present study focused on evaluating the association of the rs4349859 and rs116488202 single nucleotide polymorphisms (SNPs) close to the MHC-1 region in patients with gout.
One hundred and seventy-six individuals of Mexican origin were included, of which 81 were patients with primary gout and 95 were healthy controls. The rs4349859 and rs116488202 SNPs were genotyped using TaqMan probes by allelic discrimination by real-time PCR. Serum concentrations of biochemical parameters were measured with enzymatic methods. Descriptive statistics were applied and P-values < 0.05 were considered significant. It was observed that the rs4349859 and rs116488202 SNPs showed significant association with the risk of gout (OR = 146, 95%CI = 44.8-480.2, P < 0.01; OR = 2885, 95%CI = 265-31398, P < 0.01, respectively). Our results also showed significantly higher serum SU levels in gout patients with respect to controls (P < 0.01) in the carriers of the GA genotype compared with the GG genotype of the rs4349859 variant, and in the carriers of the CT genotype compared with the CC genotype of the rs116488202 variant.
The study revealed that rs4349859 and rs116488202 SNPs close to MHC-I region confers strong susceptibility to gout in Mexican population, and the heterozygous genotypes of both were associated with higher levels of SU.
痛风是最常见的炎性风湿性疾病，血清尿酸盐（SU）水平升高是其发病的主要原因。主要组织相容性复合体1类（MHC-1）在多种炎性疾病的发生中起重要作用；然而，几乎没有证据表明其与痛风有关。本研究重点评估痛风患者中靠近MHC-1区域的rs4349859和rs116488202单核苷酸多态性（SNP）的相关性。
纳入176名墨西哥裔个体，其中81例为原发性痛风患者，95例为健康对照。使用TaqMan探针通过实时PCR的等位基因鉴别对rs4349859和rs116488202 SNP进行基因分型。用酶法测量生化参数的血清浓度。应用描述性统计，P值<0.05被认为具有显著性。观察到rs4349859和rs116488202 SNP与痛风风险显著相关（OR分别为146，95%CI为44.8-480.2，P<0.01；OR为2885，95%CI为265-31398，P<0.01）。我们的结果还显示，与rs4349859变体的GG基因型相比，GA基因型携带者中的痛风患者血清SU水平显著高于对照组（P<0.01），与rs116488202变体的CC基因型相比，CT基因型携带者中的痛风患者血清SU水平显著高于对照组（P<0.01）。
该研究表明，靠近MHC-I区域的rs4349859和rs116488202 SNP使墨西哥人群对痛风具有高度易感性，且两者的杂合基因型均与较高的SU水平相关。
