Polymorphisms of the Niemann-Pick C1-like 1 gene in a Japanese population

Osaki, Rie; Imaeda, Hirotsugu; Takahashi, Kenichiro; Fujimoto, Takehide; Takeuchi, Takayuki; Fujiyama, Yoshihide; Andoh, Akira

doi:10.3892/br.2012.24

Cited by 7 publications

(5 citation statements)

References 25 publications

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“…Similarly, it was not associated with cholesterol levels in subjects from Taiwan [55], similar to results obtained elsewhere [56]. Nevertheless, this variant was associated with higher total cholesterol levels in 127 Japanese subjects with Crohn's disease [57] and was documented to cause different plasma lipid profiles between the Mulao and Han populations in China [58]. Recently, the rs2072183 genotype distribution was found to be significantly different in dyslipidemic vs. healthy Japanese individuals [59].…”

Section: Discussionsupporting

confidence: 73%

Efficacy of Ezetimibe Is Not Related to NPC1L1 Gene Polymorphisms in a Pilot Study of Chilean Hypercholesterolemic Subjects

et al. 2015

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Section: Discussionsupporting

confidence: 73%

Efficacy of Ezetimibe Is Not Related to NPC1L1 Gene Polymorphisms in a Pilot Study of Chilean Hypercholesterolemic Subjects

et al. 2015

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“…24,25 Osaki et al analyzed the genotype and allele frequencies of these two SNPs in Japanese HCV-infected patients, but no association was found in that study. 26 The reasons for the difference between their results and those of the present study might be as follows. Firstly, the SNPs were different in the two studies.…”

Section: Discussioncontrasting

confidence: 61%

Genetic variations of the NPC1L1 gene associated with hepatitis C virus (HCV) infection and biochemical characteristics of HCV patients in China

Zhang

Song

et al. 2016

International Journal of Infectious Diseases

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“…The results showed that compared to the healthy control group, NPC1L1 was significantly upregulated in the intestinal tissues of CD patients 34 . Some studies have shown that the genetic variants of NPC1L1 can alter total cholesterol levels and have been found to be beneficial for CD incidence 35 . However, it is still unclear whether cholesterol levels mediate the effect of NPC1L1 genotype variation on CD.…”

Section: Discussionmentioning

confidence: 98%

“…34 Some studies have shown that the genetic variants of NPC1L1 can alter total cholesterol levels and have been found to be beneficial for CD incidence. 35 However, it is still unclear whether cholesterol levels mediate the effect of NPC1L1 genotype variation on CD. While our study results showed that NPC1L1 target inhibition by gene proxy can increase the risk of IBD, this seems to be specific to the UC population.…”

Section: Discussionmentioning

confidence: 99%

Association between the use of lipid‐lowering drugs and the risk of inflammatory bowel disease

Liu

Xie

et al. 2023

Eur J Clin Investigation

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BackgroundObservational studies have suggested an association between lipid‐lowering drugs and inflammatory bowel disease (IBD) risk. This study aimed to assess the causal influence of lipid‐lowering agents on IBD risk using Mendelian randomization analysis.MethodIn a population of 173,082 individuals of European ancestry, 55 single‐nucleotide polymorphisms were identified as instrumental variables for 6 lipid‐lowering drug targets (HMGCR, NPC1LC, PCSK9, LDLR, CETP and APOB). Summary statistics for the genome‐wide association study of IBD, ulcerative colitis (UC) and Crohn's disease (CD) were obtained from the FinnGen consortium, Program in Complex Trait Genomics and UK Biobank. Inverse‐variance weighted was employed as the primary MR method, and odds ratios (ORs) with 95% confidence intervals were reported as the results. Sensitivity analyses using conventional MR methods were conducted to assess result robustness.ResultsGene‐proxied inhibition of Niemann‐Pick C1‐like 1 (NPC1L1) was associated with an increased IBD risk (OR [95% CI]: 2.31 [1.38, 3.85]; p = .001), particularly in UC (OR [95% CI]: 2.40 [1.21, 4.74], p = .012), but not in CD. This finding was replicated in the validation cohort. Additionally, gene‐proxied inhibition of low‐density lipoprotein receptor was associated with reduced IBD (OR [95% CI]: .72 [.60, .87], p < .001) and UC risk (OR [95% CI]: .74 [.59, .92], p = .006), although this result was not replicated in the validation cohort. Other drug targets did not show significant associations with IBD, UC or CD risk.ConclusionInhibition of the lipid‐lowering drug‐target NPC1L1 leads to an increased IBD risk, mainly in the UC population.

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Polymorphisms of the Niemann-Pick C1-like 1 gene in a Japanese population

Cited by 7 publications

References 25 publications

Efficacy of Ezetimibe Is Not Related to NPC1L1 Gene Polymorphisms in a Pilot Study of Chilean Hypercholesterolemic Subjects

Efficacy of Ezetimibe Is Not Related to NPC1L1 Gene Polymorphisms in a Pilot Study of Chilean Hypercholesterolemic Subjects

Genetic variations of the NPC1L1 gene associated with hepatitis C virus (HCV) infection and biochemical characteristics of HCV patients in China

Association between the use of lipid‐lowering drugs and the risk of inflammatory bowel disease

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