<HashMap><database>biostudies-literature</database><scores/><additional><omics_type>Unknown</omics_type><volume>2021</volume><submitter>Saxena S</submitter><funding>DST-CSRI, OPERA, and the Centre for Human Disease Research</funding><pubmed_abstract>A recent study showed the association of minor alleles of &lt;i>rs2228611&lt;/i> (T allele) and &lt;i>rs2114724&lt;/i> (T allele) of &lt;i>DNMT1&lt;/i> with schizophrenia (SZ) and suggested their effects on splicing of the transcripts. We performed a replication study using 310 controls and 304 SZ patients and confirmed the association of the homozygous minor allele genotypes with SZ (&lt;i>P&lt;/i> = 0.04 for &lt;i>rs2114724&lt;/i> and &lt;i>P&lt;/i> = 0.007 for rs&lt;i>2228611&lt;/i>). This significant association persisted after Bonferroni correction when the previously published data of 301 controls and 325 patients were also considered (&lt;i>P&lt;/i> ≤ 0.0002). In addition, we found that the proportion of male patients with homozygous minor alleles at &lt;i>rs2114724&lt;/i> was significantly higher than that of females (&lt;i>P&lt;/i> = 0.002</pubmed_abstract><journal>Genetics research</journal><pagination>6698979</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC8032507</full_dataset_link><repository>biostudies-literature</repository><pubmed_title>Functional Analysis of &lt;i>DNMT1&lt;/i> SNPs (&lt;i>rs2228611&lt;/i> and &lt;i>rs2114724&lt;/i>) Associated with Schizophrenia.</pubmed_title><pmcid>PMC8032507</pmcid><pubmed_authors>Prasad Rao G</pubmed_authors><pubmed_authors>Saxena S</pubmed_authors><pubmed_authors>Naik P</pubmed_authors><pubmed_authors>Chennoju K</pubmed_authors><pubmed_authors>Voina VC</pubmed_authors><pubmed_authors>Ramasubramanian C</pubmed_authors><pubmed_authors>Gowdhaman K</pubmed_authors><pubmed_authors>Choudhury S</pubmed_authors><pubmed_authors>Narayan KP</pubmed_authors><pubmed_authors>Maroju PA</pubmed_authors><pubmed_authors>Kkani P</pubmed_authors><pubmed_authors>Jamma T</pubmed_authors><pubmed_authors>Ganesh Kumar S</pubmed_authors><pubmed_authors>Mohan KN</pubmed_authors></additional><is_claimable>false</is_claimable><name>Functional Analysis of &lt;i>DNMT1&lt;/i> SNPs (&lt;i>rs2228611&lt;/i> and &lt;i>rs2114724&lt;/i>) Associated with Schizophrenia.</name><description>A recent study showed the association of minor alleles of &lt;i>rs2228611&lt;/i> (T allele) and &lt;i>rs2114724&lt;/i> (T allele) of &lt;i>DNMT1&lt;/i> with schizophrenia (SZ) and suggested their effects on splicing of the transcripts. We performed a replication study using 310 controls and 304 SZ patients and confirmed the association of the homozygous minor allele genotypes with SZ (&lt;i>P&lt;/i> = 0.04 for &lt;i>rs2114724&lt;/i> and &lt;i>P&lt;/i> = 0.007 for rs&lt;i>2228611&lt;/i>). This significant association persisted after Bonferroni correction when the previously published data of 301 controls and 325 patients were also considered (&lt;i>P&lt;/i> ≤ 0.0002). In addition, we found that the proportion of male patients with homozygous minor alleles at &lt;i>rs2114724&lt;/i> was significantly higher than that of females (&lt;i>P&lt;/i> = 0.002</description><dates><release>2021-01-01T00:00:00Z</release><publication>2021</publication><modification>2026-05-08T09:19:14.682Z</modification><creation>2022-02-09T16:02:32.226Z</creation></dates><accession>S-EPMC8032507</accession><cross_references><pubmed>33854407</pubmed><doi>10.1155/2021/6698979</doi></cross_references></HashMap>