Gao Shu-Ping, Liang Shu, Pan Min, Sun Rong-Liang, Chen Chu, Luan Hong, Jiang Min-Hui
Department of Cardiology, Ningxia People's Hospital Yinchuan 750021, P. R. China.
Department of Ophthalmology, Affiliated Hospital of Nantong University Nantong 226001, P. R. China.
Int J Clin Exp Med. 2014 Sep 15;7(9):2851-7. eCollection 2014.
Interleukin-6 (IL-6) is a key pro-inflammatory cytokine involved in different physiologic and pathophysiologic processes, and circulating levels of IL-6 differ greatly between individuals. The Chinese Hui is one of the largest ethnic minorities, little is known about the distribution of IL-6 genetic variations and their effects on serum levels in Hui population. The aim of the present study is to determine the prevalence of -174G/C (rs1800795), -597G/A (rs1800797), and -634C/G (rs1800796) polymorphisms in the IL-6 gene promoter region and their association with IL-6 serum levels in the Ningxia Hui population. A total of 96 Hui subjects, (57 men and 39 women; mean age 49.65 ± 19.73 years) unrelated nationality residents in Ningxia Hui Autonomous Region were enrolled. Genotyping of the three polymorphisms were performed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) combined with gel electrophoresis and then confirmed by direct sequencing. The -174G/C (97.92% GG, 2.08% GC, and 0% CC) and -597G/A (98.96% GG, 1.04% GA, and 0% AA) polymorphisms were rare. The frequencies of -634C/G genotypes CC, CG, and GG were found to be 54.17%, 40.62%, and 5.21%, respectively in total studied subjects, the derived allele frequencies for the C and G alleles were 74.48% and 25.52%. Increased IL-6 levels were correlated with the IL-6 -634G allele carriers (CG+GG genotypes). The results suggest that IL-6 -174G/C and -597G/A are rare but -634C/G is common in the Ningxia Hui population, and the -634G allele is associated with circulating levels of IL-6.
白细胞介素-6（IL-6）是一种关键的促炎细胞因子，参与不同的生理和病理生理过程，个体之间的IL-6循环水平差异很大。中国回族是最大的少数民族之一，关于回族人群中IL-6基因变异的分布及其对血清水平的影响知之甚少。本研究的目的是确定宁夏回族人群中IL-6基因启动子区域-174G/C（rs1800795）、-597G/A（rs1800797）和-634C/G（rs1800796）多态性的患病率及其与IL-6血清水平的关联。共纳入了96名宁夏回族自治区无血缘关系的居民（57名男性和39名女性；平均年龄49.65±19.73岁）。通过聚合酶链反应和限制性片段长度多态性（PCR-RFLP）结合凝胶电泳对三种多态性进行基因分型，然后通过直接测序进行确认。-174G/C（97.92%GG、2.08%GC和0%CC）和-597G/A（98.96%GG、1.04%GA和0%AA）多态性罕见。在所有研究对象中，-634C/G基因型CC、CG和GG的频率分别为54.17%、40.62%和5.21%，C和G等位基因的衍生等位基因频率分别为74.48%和25.52%。IL-6水平升高与IL-6 -634G等位基因携带者（CG+GG基因型）相关。结果表明，IL-6 -174G/C和-597G/A在宁夏回族人群中罕见，但-634C/G常见，且-634G等位基因与IL-6的循环水平相关。
