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

George Andrei Crauciuc, Mihaela Iancu, Peter Olah, Florin Tripon, Mădălina Anciuc, Liliana Gozar, Rodica Togănel and Claudia Bănescu
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George Andrei Crauciuc: 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
Mihaela Iancu: Department of Medical Informatics and Biostatistics, “Iuliu Hatieganu” University of Medicine and Pharmacy Cluj Napoca, 400000 Cluj Napoca, Romania
Peter Olah: Medical Informatics and Biostatistics Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania
Florin Tripon: 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
Mădălina Anciuc: 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
Liliana Gozar: Pediatrics III Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania
Rodica Togănel: Pediatrics III Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540139 Targu Mures, Romania
Claudia Bănescu: 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

IJERPH, 2020, vol. 17, issue 20, 1-12

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.

Keywords: congenital heart defects; rs1805105; rs12921862; rs370681; rs2240308 (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
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