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Genetic Variants of the MTMR 9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study.
- Source :
-
Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2020 Oct; Vol. 24 (10), pp. 625-631. Date of Electronic Publication: 2020 Sep 29. - Publication Year :
- 2020
-
Abstract
- Background: Mutations within the myotubularin-related protein 9 gene ( MTMR 9) have been identified in several families with nonsyndromic intellectual disability (NSID), a generalized neurodevelopmental disorder; however, the relationship between MTMR 9 and NSID needs to be verified using a larger sample size. Aim: To explore whether genetic variants in the MTMR 9 gene are linked to susceptibility of NSID among the Chinese population. Materials and Methods: Seven single nucleotide polymorphisms (SNPs) of the MTMR 9 gene (rs4559208, rs3824211, rs2164272, rs2164273, rs1897951, rs6991606, and rs7815802) were analyzed using family-based association testing among 258 Han Chinese NSID families. Results: Three SNPs of MTMR 9 were significantly associated with NSID ( z = 2.152, p = 0.031 for rs4559208; z = 2.403, p = 0.016 for rs2164273; and z = 2.758, p = 0.006 for rs7815802). Three alleles of these SNPs were more likely to be transferred from the carrier parents to the affected offspring. Haplotypes constructed using these SNPs also showed a similar transmitting trend ( z = 2.505, p = 0.012, χ <superscript>2</superscript> <subscript>(3)</subscript> = 8.835, and global p = 0.032). Carriers with the G-G-C haplotype showed a higher risk of NSID (odds ratio = 1.46, 95% confidence interval [1.01-2.09], p = 0.04) than others. In silico functional predictions supported an etiological role for these three SNPs in NSID biology. Conclusions: This study provides additional insights into the association of NSID with specific alleles, and haplotypes within the MTMR 9 gene. Genotypic analyses of the MTMR 9 gene should be considered for patients presenting with NSID of unknown etiology.
- Subjects :
- Adolescent
Adult
Alleles
Asian People genetics
Case-Control Studies
Child
Child, Preschool
China
Ethnicity genetics
Family
Female
Gene Frequency genetics
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Male
Middle Aged
Mutation
Polymorphism, Single Nucleotide
Protein Tyrosine Phosphatases, Non-Receptor metabolism
Intellectual Disability genetics
Protein Tyrosine Phosphatases, Non-Receptor genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1945-0257
- Volume :
- 24
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Genetic testing and molecular biomarkers
- Publication Type :
- Academic Journal
- Accession number :
- 32991201
- Full Text :
- https://doi.org/10.1089/gtmb.2020.0145