{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:33:05Z","timestamp":1786739585205,"version":"build-2736575974"},"reference-count":46,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,8]]},"abstract":"\n Purpose:<\/jats:title>\n Introns play an important role in gene regulation and expression. Single nucleotide polymorphisms (SNPs) in introns have the potential to cause disease and alter the genotype\u2013phenotype association. Hence, this study aimed to decipher the association of SNPs in the introns of the crystallin gene in congenital cataracts.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n \n SNPs in the introns of crystallin gene family \u2013\n CRYAA<\/jats:italic>\n (rs3788059),\n CRYAB<\/jats:italic>\n (rs2070894),\n CRYBA4<\/jats:italic>\n (rs2071861), and\n CRYBB2<\/jats:italic>\n (rs5752083, rs5996863) \u2013 were genotyped in 248 participants consisting of 141 congenital cataracts and 107 healthy controls by allele-specific oligonucleotide polymerase chain reaction method. Around 10% of samples for each SNPs were sequenced to confirm the genotypes. The allele, genotype, and haplotype frequency were evaluated by the SHEsis online tool.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n Using dominant model, the \u201cA\u201d allele of rs3788059 was found to have an increased risk toward congenital cataract development whereas the \u201cG\u201d allele was found to be protective (AA + AG vs. GG; odds ratio [\n OR<\/jats:italic>\n ] 95% confidence interval [CI] = 3.73 [1.71, 8.15],\n P<\/jats:italic>\n = 0.0009). The \u201cA\u201d allele of both rs2070894 (AA + AG vs. GG;\n OR<\/jats:italic>\n [95% CI] = 0.49 [0.29, 0.84],\n P<\/jats:italic>\n = 0.012) and rs5752083 (AA + AC vs. CC;\n OR<\/jats:italic>\n [95% CI] = 0.25 [0.08, 0.76],\n P<\/jats:italic>\n = 0.016) were suggested to have a protective role by the dominant model. The A-C-T haplotype (rs2071861, rs5752083, and rs5996863) was found to be a significant risk factor for the development of congenital cataract.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n Intronic SNPs in crystallin genes may play a role in the predisposition toward congenital cataract. However, the present findings need to be replicated in a large cohort with more number of samples.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/ijo.ijo_3062_20","type":"journal-article","created":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T10:22:48Z","timestamp":1627899768000},"page":"2064-2070","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":27,"title":["Deciphering the association of intronic single nucleotide polymorphisms of crystallin gene family with congenital cataract"],"prefix":"10.4103","volume":"69","author":[{"given":"Vidya","family":"Nair","sequence":"first","affiliation":[{"name":"Department of Pediatric Ophthalmology, Iladevi Cataract and IOL Research Centre, Ahmedabad, Gujarat, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajkumar","family":"Sankaranarayanan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Iladevi Cataract and IOL Research Centre, Ahmedabad, Gujarat, India"},{"name":"Department of Ophthalmic Genetics, Aditya Jyot Foundation for Twinkling Little Eyes, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhay Raghukant","family":"Vasavada","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Iladevi Cataract and IOL Research Centre, Ahmedabad, Gujarat, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2021,7,23]]},"reference":[{"key":"B1-20240828","first-page":"219","article-title":"A high percentage of introns in human genes were present early in animal evolution from the basal metazoan Nematostella vectensis","volume":"17","author":"Sullivan","year":"2006","journal-title":"Genome Inform"},{"key":"B2-20240828","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/gbe\/evt043","article-title":"Association of intron loss with high mutation rate in Arabidopsis:Implications for genome size evolution","volume":"5","author":"Yang","year":"2013","journal-title":"Genome Biol Evol"},{"key":"B3-20240828","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/416499a","article-title":"An extensive network of coupling among gene expression machines","volume":"416","author":"Maniatis","year":"2002","journal-title":"Nature"},{"key":"B4-20240828","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1038\/nrg3052","article-title":"Functional consequences of developmentally regulated alternative splicing","volume":"12","author":"Kalsotra","year":"2011","journal-title":"Nat Rev Genet"},{"key":"B5-20240828","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/1471-2148-14-50","article-title":"Genes with a large intronic burden show greater evolutionary conservation on the protein level","volume":"14","author":"Gorlova","year":"2014","journal-title":"BMC Evol Biol"},{"key":"B6-20240828","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/nature08494","article-title":"Finding the missing heritability of complex diseases","volume":"461","author":"Manolio","year":"2009","journal-title":"Nature"},{"key":"B7-20240828","doi-asserted-by":"crossref","first-page":"181","DOI":"10.3389\/fcvm.2018.00181","article-title":"Into the wild:GWAS exploration of non-coding RNAs","volume":"5","author":"Giral","year":"2018","journal-title":"Front Cardiovasc Med"},{"key":"B8-20240828","doi-asserted-by":"crossref","first-page":"e0213073","DOI":"10.1371\/journal.pone.0213073","article-title":"Evaluation of 12 GWAS-drawn SNPs as biomarkers of rheumatoid arthritis response to TNF inhibitors. 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