The Journal of Practical Medicine ›› 2021, Vol. 37 ›› Issue (13): 1678-1683.doi: 10.3969/j.issn.1006⁃5725.2021.13.007

• Clinical Research • Previous Articles     Next Articles

Non-coding RNA ANRIL CNV ⁃ 2738282 increases susceptibility to pulmonary hypertension in southern China 

LI Huibo，DUAN Yuexing，LAI Xiaochun，FENG Yanlin，HUANG Lianzhi，CHEN Qinxiu，CHENG Hon⁃ gji，ZHENG Dong，WU Jinlei，CHENG Ying，HUANG Bingsheng，LIN Guixiong，WU Yuyan，ZHANG Peng，LI Guoyang，ZENG Qingchun，ZHUO Yufeng.    

  1. Department of Cardiology，Hexian Memorial Hospital of Panyu Dis⁃ trict，Guangzhou 511440，China 

  • Online:2021-07-10 Published:2021-07-10
  • Contact: ZHUO Yufeng E⁃mail：zhuoyufengzhuan@yeah.net

Abstract:

Objective To investigate the relationship between 9p21.3 non⁃coding RNA（LncRNA ANRIL） copy number variations（CNVs）and pulmonary hypertension（PAH），and provide a scientific theoretical basis for the pathogenesis of PAH. Methods Based on a case⁃control study of 587 PAH patients as the case group and 736 healthy adults as the control group in southern China，the genotype of ANRIL CNVs was detected by TaqMan meth⁃ od，and the correlation between ANRIL CNVs and PAH was analyzed. A series of biological experiments revealed that CNVs were the molecular mechanism affecting the occurrence of PAH. Results ANRIL CNV ⁃2738282 was significantly associated with the incidence of PAH in the population. Loss of copy number could reduce the risk of PAH（OR = 0.40，95% CI：0.31 ~ 0.53）. The deletion of CNV⁃2738282 copy number can decrease the expression of ANRIL，and then alter the transcriptional regulation of target gene CARD8 by ANRIL，thus affect the occur⁃ rence of PAH. Conclusion ANRIL CNV ⁃2738282 is associated with PAH and can be used as a biomarker for PAH susceptibility assessment.

Key words:

non?coding RNA, copy number variation, PAH, susceptibility