title: Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.
abstract: SLC44A4 is one of the seven novel susceptibility genes that were discovered in the first ever genome-wide association study (GWAS) on ulcerative colitis (UC) in the genetically distinct north Indians. This gene seems to be functionally relevant to disease biology as it may contribute to the associated phenotype of Vitamin B1 deficiency among UC patients, hence playing a role in disease pathogenesis. A large number of single-nucleotide polymorphisms (SNPs) are known to be distributed throughout this gene, but the functional status of most are not known. Thus, an extensive investigation of structural and regulatory variants within this gene was undertaken in this study to identify the critical variants amongst them using a combination of fine mapping, in silico and in vitro approaches. A few intronic SNPs were predicted to have regulatory roles on the basis of in silico analysis, suggesting that they may be the critical variants within SLC44A4. This highlights the importance of this gene in UC biology, thus confirming the finding of the GWAS and also warranting additional studies.
authors.affiliation: Department of Genetics, University of Delhi South Campus, New Delhi, India.
authors.forename: A
authors.initials: A
authors.lastname: Gupta
authors.affiliation: Department of Genetics, University of Delhi South Campus, New Delhi, India.
authors.forename: B K
authors.initials: BK
authors.lastname: Thelma
mesh_terms: D000818:Animals; D016466:CHO Cells; D003093:Colitis, Ulcerative / Q000150:complications / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D003412:Cricetulus; D005091:Exons; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007194:India; D007438:Introns; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011994:Recombinant Proteins / Q000235:genetics / Q000378:metabolism; D013831:Thiamine / Q000378:metabolism*; D014162:Transfection; D014804:Vitamin B Deficiency / Q000150:complications / Q000208:ethnology / Q000235:genetics* / Q000473:pathology
chemical_list: D026901:Membrane Transport Proteins; D011994:Recombinant Proteins; C583905:SLC44A4 protein, human; D013831:Thiamine