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      Significant Associations between AXIN1 rs1805105, rs12921862, rs370681 Haplotypes and Variant Genotypes of AXIN2 rs2240308 with Risk of Congenital Heart Defects

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          Abstract

          This study aimed to investigate possible associations of the susceptibility to congenital heart defects (CHDs) with AXIN1 rs1805105, rs12921862 and rs370681 gene variants and haplotypes, and AXIN2 rs2240308 gene variant. Significant associations were identified for AXIN1 rs370681 and AXIN2 rs2240308 variants. AXIN1 rs370681 variant was significantly associated with decreased odds of CHDs (adjusted OR varying from 0.13 to 0.28 in codominant, dominant and recessive gene models), while the AXIN2 rs2240308 variant was associated with increased odds of CHD in the dominant model. The haplotype-based generalized linear model regression of AXIN1 rs1805105, rs12921862 and rs370681 variants revealed that C-C-C and C-C-T haplotypes significantly increased the risk of CHDs ( p < 0.05). No significant second order epistatic interactions were found between investigated variants ( AXIN1 rs1805105, rs12921862, rs370681, and AXIN2 rs2240308). Our conclusion is that AXIN1 rs1805105, rs12921862, and rs370681 (C-C-C and C-C-T) haplotypes and AXIN2 rs2240308 contribute to CHDs susceptibility.

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          Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities.

          Roel Nusse, Hans Clevers (2017)
          The WNT signal transduction cascade is a main regulator of development throughout the animal kingdom. Wnts are also key drivers of most types of tissue stem cells in adult mammals. Unsurprisingly, mutated Wnt pathway components are causative to multiple growth-related pathologies and to cancer. Here, we describe the core Wnt/β-catenin signaling pathway, how it controls stem cells, and contributes to disease. Finally, we discuss strategies for Wnt-based therapies.
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            Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

            Sheng Jin, Jason Homsy, Samir Zaidi … (2017)
            Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Exome sequencing of a single cohort of 2,871 CHD probands including 2,645 parent-offspring trios implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ~5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ~11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of Tetralogy of Fallot. De novo mutations (DNMs) accounted for 8% of cases, including ~3% of isolated CHD patients and ~28% with both neurodevelopmental and extra-cardiac congenital anomalies. Seven genes surpassed thresholds for genome-wide significance and 12 genes not previously implicated in CHD had > 70% probability of being disease-related; DNMs in ~440 genes are inferred to contribute to CHD. There was striking overlap between genes with damaging DNMs in probands with CHD and autism.
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              R:A Language and environment for statistical computing

              R Project (2024)
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Environ Res Public Health
                Journal ID (iso-abbrev): Int J Environ Res Public Health
                Journal ID (publisher-id): ijerph
                Title: International Journal of Environmental Research and Public Health
                Publisher: MDPI
                ISSN (Print): 1661-7827
                ISSN (Electronic): 1660-4601
                Publication date (Electronic): 21 October 2020
                Publication date (Print): October 2020
                Volume: 17
                Issue: 20
                Electronic Location Identifier: 7671
                Affiliations
                [1 ]Genetics Laboratory, Center for Advanced Medical and Pharmaceutical Research of George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania; andrei.crauciuc@ 123456umfst.ro (G.A.C.); florin.tripon@ 123456umfst.ro (F.T.); mada_anciuc@ 123456yahoo.com (M.A.); claudia.banescu@ 123456umfst.ro (C.B.)
                [2 ]Genetics Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania
                [3 ]Department of Medical Informatics and Biostatistics, “Iuliu Hatieganu” University of Medicine and Pharmacy Cluj Napoca, 400000 Cluj Napoca, Romania
                [4 ]Medical Informatics and Biostatistics Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania
                [5 ]Pediatrics III Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania; liliana.gozar@ 123456umfst.ro (L.G.); rodica.toganel@ 123456umfst.ro (R.T.)
                Author notes
                [* ]Correspondence: miancu@ 123456umfcluj.ro (M.I.); peter.olah@ 123456umfst.ro (P.O.); Tel.: +40-264-597256 (M.I.); +40-265-215551 (P.O.)
                Author information
                https://orcid.org/0000-0002-4557-5364
                https://orcid.org/0000-0002-4297-9988
                Article
                Publisher ID: ijerph-17-07671
                DOI: 10.3390/ijerph17207671
                PMC ID: 7589771
                PubMed ID: 33096676
                SO-VID: 80540bd7-fb12-42e9-a86b-7dd9eae8c7d2
                Copyright © © 2020 by the authors.
                License:

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 24 September 2020
                Date accepted : 19 October 2020
                Categories
                Subject: Article

                ScienceOpen disciplines: Public health
                Keywords: congenital heart defects,rs1805105,rs12921862,rs370681,rs2240308
                Data availability:
                ScienceOpen disciplines: Public health
                Keywords: congenital heart defects, rs1805105, rs12921862, rs370681, rs2240308

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