Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease
Background: Both Niemann-Pick C1-like 1 (NPC1L1) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) play a key role on dyslipidaemia. We aim to evaluate whether NPC1L1 and HMGCR genetic variants are associated with susceptibility of premature triple-vessel disease (PTVD).Methods: Four singl...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-12-01
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| Series: | Frontiers in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2021.704501/full |
| _version_ | 1818843167636586496 |
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| author | Xueyan Zhao Jingjing Xu Xiaofang Tang Keyong Huang Jiawen Li Ru Liu Lin Jiang Yin Zhang Dong Wang Kai Sun Bo Xu Wei Zhao Rutai Hui Runlin Gao Lei Song Jinqing Yuan |
| author_facet | Xueyan Zhao Jingjing Xu Xiaofang Tang Keyong Huang Jiawen Li Ru Liu Lin Jiang Yin Zhang Dong Wang Kai Sun Bo Xu Wei Zhao Rutai Hui Runlin Gao Lei Song Jinqing Yuan |
| author_sort | Xueyan Zhao |
| collection | DOAJ |
| description | Background: Both Niemann-Pick C1-like 1 (NPC1L1) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) play a key role on dyslipidaemia. We aim to evaluate whether NPC1L1 and HMGCR genetic variants are associated with susceptibility of premature triple-vessel disease (PTVD).Methods: Four single-nucleotide polymorphisms (SNPs) (rs11763759, rs4720470, rs2072183, and rs2073547) of NPC1L1; and three SNPs (rs12916, rs2303151, and rs4629571) of HMGCR were genotyped in 872 PTVD patients (males ≤ 50 years old and females ≤ 60 years old), and 401 healthy controls.Results: After adjusting for age and sex, rs12916 of HMGCR was associated with the risk of PTVD in dominance model [odds ratio (OR) = 1.68, 95% confidence intervals (CI): 1.29–2.18, P < 0.001], recessive model (OR = 1.43, 95% CI: 1.08–1.90, P = 0.013) and codominant model (OR = 1.38, 95% CI: 1.17–1.63, P < 0.001); meanwhile, rs4720470 of NPC1L1 was related to increased risk of PTVD in recessive model (OR = 1.74, 95% CI: 1.14–2.74, P = 0.013). Patients who carried both variant rs4720470 and rs12916 also had the risk of PTVD (P < 0.001); however, there were no correlation between these SNPs and the SNYTAX score (all P > 0.05).Conclusions: This is the first report that rs4720470 is a novel polymorphism of the NPC1L1 gene associated with PTVD, and rs12916 of HMGCR gene appears to be a strong genetic marker of PTVD. Our study may improve the early warning, therapeutic strategies and drug development of PTVD. |
| first_indexed | 2024-12-19T04:53:34Z |
| format | Article |
| id | doaj.art-27286a1d258b48fe84192bc0f05a96b1 |
| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-12-19T04:53:34Z |
| publishDate | 2021-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-27286a1d258b48fe84192bc0f05a96b12022-12-21T20:35:17ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2021-12-01810.3389/fcvm.2021.704501704501Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary DiseaseXueyan ZhaoJingjing XuXiaofang TangKeyong HuangJiawen LiRu LiuLin JiangYin ZhangDong WangKai SunBo XuWei ZhaoRutai HuiRunlin GaoLei SongJinqing YuanBackground: Both Niemann-Pick C1-like 1 (NPC1L1) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) play a key role on dyslipidaemia. We aim to evaluate whether NPC1L1 and HMGCR genetic variants are associated with susceptibility of premature triple-vessel disease (PTVD).Methods: Four single-nucleotide polymorphisms (SNPs) (rs11763759, rs4720470, rs2072183, and rs2073547) of NPC1L1; and three SNPs (rs12916, rs2303151, and rs4629571) of HMGCR were genotyped in 872 PTVD patients (males ≤ 50 years old and females ≤ 60 years old), and 401 healthy controls.Results: After adjusting for age and sex, rs12916 of HMGCR was associated with the risk of PTVD in dominance model [odds ratio (OR) = 1.68, 95% confidence intervals (CI): 1.29–2.18, P < 0.001], recessive model (OR = 1.43, 95% CI: 1.08–1.90, P = 0.013) and codominant model (OR = 1.38, 95% CI: 1.17–1.63, P < 0.001); meanwhile, rs4720470 of NPC1L1 was related to increased risk of PTVD in recessive model (OR = 1.74, 95% CI: 1.14–2.74, P = 0.013). Patients who carried both variant rs4720470 and rs12916 also had the risk of PTVD (P < 0.001); however, there were no correlation between these SNPs and the SNYTAX score (all P > 0.05).Conclusions: This is the first report that rs4720470 is a novel polymorphism of the NPC1L1 gene associated with PTVD, and rs12916 of HMGCR gene appears to be a strong genetic marker of PTVD. Our study may improve the early warning, therapeutic strategies and drug development of PTVD.https://www.frontiersin.org/articles/10.3389/fcvm.2021.704501/fullNPC1L1HMGCRgenetic variantsSYNTAX scorepremature triple-vessel disease |
| spellingShingle | Xueyan Zhao Jingjing Xu Xiaofang Tang Keyong Huang Jiawen Li Ru Liu Lin Jiang Yin Zhang Dong Wang Kai Sun Bo Xu Wei Zhao Rutai Hui Runlin Gao Lei Song Jinqing Yuan Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease Frontiers in Cardiovascular Medicine NPC1L1 HMGCR genetic variants SYNTAX score premature triple-vessel disease |
| title | Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease |
| title_full | Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease |
| title_fullStr | Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease |
| title_full_unstemmed | Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease |
| title_short | Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease |
| title_sort | effect of npc1l1 and hmgcr genetic variants with premature triple vessel coronary disease |
| topic | NPC1L1 HMGCR genetic variants SYNTAX score premature triple-vessel disease |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2021.704501/full |
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