rs114172604 - MAN1A1 - MIR3144

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-Wide Association Analysis of Neonatal White Matter Microstructure. - Cerebral cortex (New York, N.Y. : 1991) (2022) · Zhang J, Xia K, Ahn M, Jha SC, Blanchett R, Crowley JJ, Szatkiewicz JP, Zou F, Zhu H, Styner M, Gilmore JH, Knickmeyer RC · PubMed 33009551

  A better understanding of genetic influences on early white matter development could significantly advance our understanding of neurological and psychiatric conditions characterized by altered integrity of axonal pathways. We conducted a genome-wide association study (GWAS) of diffusion tensor imaging (DTI) phenotypes in 471 neonates. We used a hierarchical functional principal regression model (HFPRM) to perform joint analysis of 44 fiber bundles. HFPRM revealed a latent measure of white matter microstructure that explained approximately 50% of variation in our tractography-based measures and accounted for a large proportion of heritable variation in each individual bundle. An intronic SNP in PSMF1 on chromosome 20 exceeded the conventional GWAS threshold of 5 x 10-8 (p = 4.61 x 10-8)

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