Abstract

Objective To explore the distribution characteristics of rs3819024 and rs2275913 polymorphisms of interleukin-17A (IL-17A) gene in Black-clothes Zhuang population in Guangxi and the polymorphism different among ethnic populations. Methods The polymorphisms of rs3819024 and rs2275913 of IL-17A gene in 115 Black-clothes Zhuang subjects were genotyped by SNaPshot technique. And used statistical methods to compare the differences in the distribution of these polymorphisms across sexes and populations. Results There were AA, AG and GG genotypes at rs3819024 and rs2275913 of IL-17A gene of Black-clothes Zhuang population in Guangxi, and AG genotype was the most common genotype in both loci. The frequencies of AA, AG and GG genotypes at rs3819024 were 15.6%, 54.8% and 29.6%, respectively, and the frequencies of AA, AG and GG genotypes at rs2275913 were 27.8%, 51.3% and 20.9%, respectively. G and A alleles were commonly found at rs3819024 and rs2275913, respectively, and their distribution frequencies were 57.0% and 53.5%, respectively. The genotype and allele frequency of rs3819024 and rs2275913 had no significant difference between male and female ( P>0.05). The genotype and allele of rs3819024 were significantly different from Japanese in Tokyo, Japan (JPT), Yoruba in Ibadan, Nigeria (YRI), Gujarati Indians in Houston (GIH) and Utah residents with Northern and Western European ancestry from the CEPH collection (CEU) populations published by the 1000 Genome Project (all P<0.05). There was no statistically significant different from Han Chinese in Beijing, China (CHB) population ( P>0.05)。The distribution frequency of each genotype and allele at rs2275913 site were significantly different from YRI, GIH and CEU ( P<0.05), and there was no statistically significant different from HCB ( P>0.05). Compared with JPT, the difference in genotype distribution frequency was not statistically significant ( P<0.05), but the difference in allele distribution frequency was statistically significant ( P<0.05). Conclusion The locus polymorphisms of rs3819024 and rs2275913 of IL-17A gene have difference among different races and regions. 摘要: 目的 探讨广西黑衣壮人群白细胞介素 17A 基因 ( IL-17A) rs3819024、rs2275913 位点的多态性分布特点和 不同人群间的多态性差异。 方法 采取多重单碱基延伸法 (SNaPshot) 方法对 115 例广西黑衣壮人群 IL-17A 基因 rs3819024、rs2275913 位点进行基因分型检测, 并比较不同性别及人群分布差异。 结果 广西黑衣壮人群 IL-17A 基因 rs3819024 和 rs2275913 位点均存在 AA、AG、GG 3 种基因型, 两位点基因型分布均以 AG 基因型多见, 其中 rs3819024 位 点 AA、AG、GG 基因型的分布频率分别为 15.6%、54.8%、29.6%; rs2275913 位点 AA、AG、GG 基因型的分布频率分别为 27.8%、51.3%、20.9%。rs3819024 和 rs2275913 位点分别以 G 和 A 等位基因多见, 分布频率分别为 57.0% 和 53.5%。rs3819024 和 rs2275913 两位点基因型及等位基因频率在广西黑衣壮人群男女性别间比较, 差异无统计学意义 ( P>0.05)。rs3819024 位点基因型及等位基因频率与千人基因组计划 (1000 Genomes) 数据库公布的日本人群 (JPT)、非洲 尼日利亚人群 (YRI)、印第安人群 (GIH)、欧洲人群 (CEU) 比较, 差异均有统计学意义 ( P<0.05); 与北京汉族人群 (HCB) 比较差异无统计学意义 ( P>0.05)。rs2275913 位点基因型及等位基因频率与 YRI、GIH、CEU 人群比较差异均有统计学 意义 ( P<0.05), 与 HCB 人群比较差异无统计学意义 ( P>0.05); 而与 JPT 人群相比, 基因型频率差异无统计学意义 ( P>0.05), 但等位基因频率差异有统计学意义 ( P<0.05)。 结论 IL-17A 基因rs3819024、rs2275913 基因位点多态性在不同 种族和地区间存在差异。

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