Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women

被引:0
|
作者
Cai, Yang [1 ,2 ]
Lv, Hongyao [2 ]
Yuan, Meng [2 ]
Wang, Jiao [2 ]
Wu, Wenhui [2 ]
Fang, Xiaoyu [2 ]
Chen, Changying [3 ]
Mu, Jialing [3 ]
Liu, Fangyuan [3 ]
Gu, Xincheng [3 ]
Xie, Hankun [3 ]
Liu, Yu [4 ]
Xu, Haifeng [4 ]
Fan, Yao [5 ]
Shen, Chong [3 ]
Ma, Xiangyu [1 ,2 ]
机构
[1] Southwest Med Univ, Coll Publ Hlth, Luzhou, Sichuan, Peoples R China
[2] Third Mil Med Univ, Army Med Univ, Coll Prevent Med, Dept Epidemiol, Chongqing, Peoples R China
[3] Nanjing Med Univ, Sch Publ Hlth, Dept Epidemiol, Nanjing, Peoples R China
[4] Ctr Dis Control & Prevent Jurong City, Inst Prevent & Control Chron Noncommunicable Dis, Jurong, Peoples R China
[5] Nanjing Med Univ, Geriatr Hosp, Dept Clin Epidemiol, Nanjing, Peoples R China
关键词
Genome-wide association study; Chronic kidney disease; Cystatin-C; Estimated glomerular filtration rate; GLOMERULAR-FILTRATION-RATE; OLFACTORY RECEPTORS; SERUM CREATININE; RENAL-FAILURE; RESISTIN; DISEASE; METAANALYSIS; ADIPONECTIN; ACTIVATION; EXPRESSION;
D O I
10.1186/s12920-024-02048-6
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
BackgroundWith increasing incidence and treatment costs, chronic kidney disease (CKD) has become an important public health problem in China, especially in females. However, the genetic determinants are very limited. The estimated glomerular filtration rate (eGFR) based on creatinine is commonly used as a measure of renal function but can be easily affected by other factors. In contrast, eGFR based on both creatinine and cystatin C (eGFRcr-cys) improved the diagnostic accuracy of CKD. To our knowledge, no genome-wide association analysis of eGFRcr-cys has been conducted in the Chinese population.MethodsBy conducting a Genome-Wide association study(GWAS), a method used to identify associations between genetic regions (genomes) and traits/diseases, we examined the relationship between genetic factors and eGFRcr-cys in Chinese women, with 1983 participants and 3,838,121 variants included in the final analysis.ResultOne significant locus (20p11.21) was identified in the Chinese female population, which has been reported to be associated with eGFR based on cystatin C (eGFRcys) in the European population. More importantly, we found two new suggestive loci (1p31.1 and 11q24.2), which have not yet been reported. A total of three single nucleotide polymorphisms were identified as the most important variants in these regions, including rs2405367 (CST3), rs66588571(KRT8P21), and rs626995 (OR8B2).ConclusionWe identified 3 loci 20p11.21, 1p31.1, and 11q24.2 to be significantly associated with eGFRcr-cys. These findings and subsequent functional analysis describe new biological clues related to renal function in Chinese women and provide new ideas for the diagnosis and treatment development of CKD.
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页数:8
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