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DOI 10.1038/s41598-017-04127-4

Медицинская библиотека · Scientific reports · 2017

Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Li Zhiqiang, Zhou Zhaowei, Hou Xu, Lu Dajiang, Yuan Xuan, Lu Jie, Wang Can, Han Lin, Cui Lingling, Liu Zhen, Chen Jianhua, Cheng Xiaoyu, Zhang Keke, Ji Jue, Jia Zhaotong, Ma Lidan, Xin Ying, Liu Tian, Yu Qing, Ren Wei, Wang Xuefeng, Li Xinde, Mi Qing-Sheng, Shi Yongyong, Li Changgui

СтатьяПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

Gout is a chronic disease resulting from elevated serum urate (SU). Previous genome-wide association studies (GWAS) have identified dozens of susceptibility loci for SU/gout, but few have been conducted for Chinese descent. Here, we try to extensively investigate whether these loci contribute to gout risk in Han Chinese. A total of 2255 variants in linkage disequilibrium (LD) with GWAS identified SU/gout associated variants were analyzed in a Han Chinese cohort of 1255 gout patients and 1848 controls. Cumulative genetic risk score analysis was performed to assess the cumulative effect of multiple "risk" variants on gout incidence. 23 variants (41%) of LD pruned variants set (n = 56) showed nominal association with gout in our sample (p < 0.05). Some of the previously reported gout associated loci (except ALDH16A1), including ABCG2, SLC2A9, GCKR, ALDH2 and CNIH2, were replicated. Cumulative genetic risk score analyses showed that the risk of gout increased for individuals with the growing number (≥8) of the risk alleles on gout associated loci. Most of the gout associated loci identified in previous GWAS were confirmed in an independent Chinese cohort, and the SU associated loci also confer susceptibility to gout. These findings provide important information of the genetic association of gout.

Для цитирования: Li Zhiqiang, Zhou Zhaowei, Hou Xu, Lu Dajiang, Yuan Xuan, Lu Jie, Wang Can, Han Lin, Cui Lingling, Liu Zhen, Chen Jianhua, Cheng Xiaoyu, Zhang Keke, Ji Jue, Jia Zhaotong, Ma Lidan, Xin Ying, Liu Tian, Yu Qing, Ren Wei, Wang Xuefeng, Li Xinde, Mi Qing-Sheng, Shi Yongyong, Li Changgui. Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.. Scientific reports. 2017. DOI: 10.1038/s41598-017-04127-4.

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