Genome-wide association study revealed novel candidate gene loci associated with soluble E-selectin levels in a Taiwanese population

Teng, Ming‐Sheng; Hsu, Lung‐An; Wu, Semon; Tzeng, I‐Shiang; Chou, Hsin-Hua; Ko, Yu‐Lin

doi:10.1016/j.atherosclerosis.2021.10.006

Cited by 2 publications

(2 citation statements)

References 60 publications

(88 reference statements)

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“…The glycosyltransferase ABO gene catalyzes the formation of the antigenic structures of the ABO blood type, and non-O blood types are associated with increased NAFLD risk ( Zhong et al, 2019 ). The ABO locus is also the main determinant of circulating levels of E-selectin ( Polfus et al, 2019 ; Teng et al, 2021 ). E-selectin plays a key role in the recruitment of leukocytes during inflammatory processes.…”

Section: Discussionmentioning

confidence: 99%

Genetic variants associated with circulating liver injury markers in Mexican Americans, a population at risk for non-alcoholic fatty liver disease

Sabotta

Kwan²,

Petty³

et al. 2022

Front. Genet.

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Objective: Mexican Americans are disproportionally affected by non-alcoholic fatty liver disease (NAFLD), liver fibrosis and hepatocellular carcinoma. Noninvasive means to identify those in this population at high risk for these diseases are urgently needed.Approach: The Cameron County Hispanic Cohort (CCHC) is a population-based cohort with high rates of obesity (51%), type 2 diabetes (28%) and NAFLD (49%). In a subgroup of 564 CCHC subjects, we evaluated 339 genetic variants previously reported to be associated with liver injury markers aspartate aminotransferase (AST) and alanine aminotransferase (ALT) in United Kingdom and Japanese cohorts.Results: Association was confirmed for 86 variants. Among them, 27 had higher effect allele frequency in the CCHC than in the United Kingdom and Japanese cohorts, and 16 had stronger associations with AST and ALT than rs738409 (PNPLA3). These included rs17710008 (MYCT1), rs2519093 (ABO), rs1801690 (APOH), rs10409243 (S1PR2), rs1800759 (LOC100507053) and rs2491441 (RGL1), which were also associated with steatosis and/or liver fibrosis measured by vibration-controlled transient elastography. Main contributors to advanced fibrosis risk were rs11240351 (CNTN2), rs1800759 (LOC100507053), rs738409 (PNPLA3) and rs1801690 (APOH), with advanced fibrosis detected in 37.5% of subjects with 3 of these 4 variants [AOR = 11.6 (95% CI) = 3.8–35.3]. AST- and ALT-associated variants implicated distinct pathways (ethanol and galactose degradation versus antigen presentation and B cell development). Finally, 8 variants, including rs62292950 (DNAJC13), were associated with gut microbiome changes.Conclusion: These genotype-phenotype findings may have utility in risk modeling and disease prevention in this high-risk population.

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Section: Discussionmentioning

confidence: 99%

Genetic variants associated with circulating liver injury markers in Mexican Americans, a population at risk for non-alcoholic fatty liver disease

Sabotta

Kwan²,

Petty³

et al. 2022

Front. Genet.

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“…Factor VIII levels 73 , vWF levels 73,74 , serum alkaline phosphatase levels 39,49,63,[75][76][77] , Eselectin levels 74,[78][79][80][81] … Dopamine to norepinephrine conversion.…”

Section: Or4x1 Rs10838851mentioning

confidence: 99%

Association analyses of predicted loss-of-function variants prioritized 15 genes as blood pressure regulators

Lecluze

Lettre

2023

Preprint

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Background: Hypertension, clinically defined by elevated blood pressure (BP), is an important cause of mortality and morbidity worldwide. Many risk factors for hypertension are known, including a positive family history, which suggests that genetics contribute to inter-individual BP variation. Genome-wide association studies (GWAS) have identified >1000 loci associated with BP, yet the identity of the genes responsible for these associations remains largely unknown. Methods: To pinpoint genes that causally impact BP variation in humans, we analyzed predicted loss-of-function (pLoF) variants in the UK Biobank whole-exome sequencing dataset (n=454,709 participants, 6% non-European ancestry). We analyzed genetic associations between systolic or diastolic BP (SBP/DBP) and single pLoF variants (additive and recessive genetic models) as well as with the burden of very rare pLoF variants (minor allele frequency [MAF] <0.01%). Results: Single pLoF variants in ten genes associated with BP (ANKDD1B, ENPEP, PNCK, BTN3A2, C1orf145 [OBSCN-AS1], CASP9, DBH, KIAA1161 [MYORG], OR4X1, and TMC3). We also found a burden of rare pLoF variants in five additional genes associated with BP (TTN, NOS3, FES, SMAD6, COL21A1). Except for PNCK, which is located on the X-chromosome, these genes map near variants previously associated with BP by GWAS, validating the study of pLoF variants to prioritize causal genes at GWAS loci. Conclusions: Our study highlights 15 genes that likely modulate BP in humans, including five genes that harbor pLoF variants associated with lower BP.

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Genome-wide association study revealed novel candidate gene loci associated with soluble E-selectin levels in a Taiwanese population

Cited by 2 publications

References 60 publications

Genetic variants associated with circulating liver injury markers in Mexican Americans, a population at risk for non-alcoholic fatty liver disease

Genetic variants associated with circulating liver injury markers in Mexican Americans, a population at risk for non-alcoholic fatty liver disease

Association analyses of predicted loss-of-function variants prioritized 15 genes as blood pressure regulators

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