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