{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yuan S"],"funding":["Key Research and Development Project of Ningxia Hui Autonomous Region","Natural Science Foundation of Ningxia","National Natural Science Foundation of China"],"pagination":["129"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8934471"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["22(1)"],"pubmed_abstract":["<h4>Background</h4>Keratoconus (KC) is a complex, non-inflammatory corneal degenerative disease. Although numerous studies have analyzed the correlation of SNP rs1324183, which located in MPDZ-NF1B gene, and KC in different populations, only few findings were repeated. In this study, to evaluate the association between rs1324183 and KC in a new independent Chinese population, we performed a replication study of the significantly associated rs1324183.<h4>Methods</h4>In total of 114 unrelated KC patients and 88 unrelated controls were recruited from Ningxia, China. We detected the genotypes and alleles of rs1324183 using PCR technology and Sanger sequencing and also analyzed the association between this locus and KC, its clinical parameters by statistical methods.<h4>Results</h4>The frequenc"],"journal":["BMC ophthalmology"],"pubmed_title":["Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population."],"pmcid":["PMC8934471"],"funding_grant_id":["2021AAC03302","2021BEG02045","82060183"],"pubmed_authors":["Yuan S","Zhou L","Li H","Sheng X","Liu J","Shi B","Li D","Ma M","Ma Z","Zhang S"],"additional_accession":[]},"is_claimable":false,"name":"Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population.","description":"<h4>Background</h4>Keratoconus (KC) is a complex, non-inflammatory corneal degenerative disease. Although numerous studies have analyzed the correlation of SNP rs1324183, which located in MPDZ-NF1B gene, and KC in different populations, only few findings were repeated. In this study, to evaluate the association between rs1324183 and KC in a new independent Chinese population, we performed a replication study of the significantly associated rs1324183.<h4>Methods</h4>In total of 114 unrelated KC patients and 88 unrelated controls were recruited from Ningxia, China. We detected the genotypes and alleles of rs1324183 using PCR technology and Sanger sequencing and also analyzed the association between this locus and KC, its clinical parameters by statistical methods.<h4>Results</h4>The frequenc","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2026-04-08T17:43:12.248Z","creation":"2024-11-20T22:32:57.759Z"},"accession":"S-EPMC8934471","cross_references":{"pubmed":["35305607"],"doi":["10.1186/s12886-022-02359-1"]}}