ZNF527 gene rs386809049 analysis in population of ukraine

Gulkovskyi, R. V.; Chernushyn, S. Yu.; Kravchenko, S. A.; Лившиц, Л. А.

doi:10.3103/s0095452715040040

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“…In recent reports we have presented our study on the whole exome sequencing (WES) in two affected siblings with non-syndromic intellectual disability from Ukrainian family and their healthy non-consanguineous parents that identifi ed two missense mutations in the coding region of the EPHA1 gene (c. 1475 G > A -rs11768549 and novel c.1891G > A) [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Association of the EPHA1 gene polymorphism with idiopathic mild intellectual disability

2015

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Aim.To investigate a possible association of the EPHA1 gene polymorphism with mild intellectual disability (ID). Methods. The group of patients with mild (IQ score between 50 and 70) idiopathic intellectual disability consisted of 65 individuals including 41 (63.1 %) males and 24 (36.9 %) females. The control group consisted of 250 healthy volunteers from different regions of Ukraine. The genotyping was performed using PCR followed by RFLP analysis for rs11768549, rs11767557, rs11771145 and ARMS PCR analysis for novel c.1891G>A EPHA1 gene mutation. Results. The data concerning the EPHA1 genotypes and allelic variants distribution in ID patients and control group were obtained. Statistical analysis showed a signifi cant association of minor rs11768549-A allele (OR = 3.96, 95 % CI = 1.13-13.89) and wild-type rs11767557-T (OR = 1.99, 95 % CI = 1.18-3.37) and rs11771145-G (OR= 1.55, 95 % CI = 1.02-2.37) alleles with a higher risk of mild ID development (p < 0.05 for all). Conclusions. Our results suggest that SNPs (rs11768549, rs11767557, rs11771145) in the EPHA1 gene are associated with idiopathic mild intellectual disability. Therefore, we propose the EPHA1gene as a new candidate gene and the polymorphisms rs11768549, rs11767557, rs11771145 as new markers of genetic susceptibility for intellectual disability. K e y w o r d s: EPHA1 gene, intellectual disability, polymorphism, genetic susceptibility.

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Section: Introductionmentioning

confidence: 99%