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Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses.
Mi, Jiarui; Jiang, Qingwei; Qi, Zhengwei; Liu, Zhengye; Bai, Xiaoyin; Zheng, Xia; Wu, Jiaguo; Fang, Yanfei; Yang, Aiming; Chen, Haotian.
Affiliation
  • Mi J; Department of Gastroenterology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, China.
  • Jiang Q; Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Qi Z; Department of Gastroenterology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, China.
  • Liu Z; Department of Plastic and Aesthetic Center, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310003, Zhejiang, China.
  • Bai X; Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Zheng X; Department of Gastroenterology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, China.
  • Wu J; Department of Gastroenterology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, China.
  • Fang Y; Department of Gastroenterology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, China.
  • Yang A; Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Chen H; Department of Gastroenterology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, China. 3414288@zju.edu.cn.
Hum Genomics ; 18(1): 19, 2024 Feb 12.
Article in En | MEDLINE | ID: mdl-38347599
ABSTRACT
The causal relationships between plasma metabolites and cholelithiasis/cholecystitis risks remain elusive. Using two-sample Mendelian randomization, we found that genetic proxied plasma campesterol level showed negative correlation with the risk of both cholelithiasis and cholecystitis. Furthermore, the increased risk of cholelithiasis is correlating with the increased level of plasma campesterol. Lastly, genetic colocalization study showed that the leading SNP, rs4299376, which residing at the ABCG5/ABCG8 gene loci, was shared by plasma campesterol level and cholelithiasis, indicating that the aberrant transportation of plant sterol/cholesterol from the blood stream to the bile duct/gut lumen might be the key in preventing cholesterol gallstone formation.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phytosterols / Gallstones / Cholecystitis / Cholesterol Type of study: Clinical_trials / Etiology_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Genomics Journal subject: GENETICA Year: 2024 Type: Article Affiliation country: China
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phytosterols / Gallstones / Cholecystitis / Cholesterol Type of study: Clinical_trials / Etiology_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Genomics Journal subject: GENETICA Year: 2024 Type: Article Affiliation country: China