{"doi":"10.1111/trf.12771","title":"A systematic study of single‐nucleotide polymorphisms in the <i><scp>A</scp>4<scp>GALT</scp></i> gene suggests a molecular genetic basis for the <scp>P</scp><sub>1</sub>/<scp>P</scp><sub>2</sub> blood groups","abstract":"<jats:sec><jats:title>Background</jats:title><jats:p>The molecular mechanism for the formation of the <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>1</jats:sub>/<jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>2</jats:sub> blood groups remains unsolved. It has been shown that the <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>1</jats:sub>/<jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>2</jats:sub> polymorphism is connected to the different <jats:italic><jats:styled-content style=\"fixed-case\">A</jats:styled-content>4<jats:styled-content style=\"fixed-case\">GALT</jats:styled-content></jats:italic> gene expression levels in <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>1</jats:sub> and <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>2</jats:sub> red blood cells.</jats:p></jats:sec><jats:sec><jats:title>Study Design and Methods</jats:title><jats:p>The present investigation conducted a pilot investigation that involved the detailed and stepwise screening of single‐nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP</jats:styled-content>s) in the <jats:italic><jats:styled-content style=\"fixed-case\">A</jats:styled-content>4<jats:styled-content style=\"fixed-case\">GALT</jats:styled-content></jats:italic> gene, followed by a larger‐scale association study. The transcription‐inducing activity by the different genotypes of <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content>s was analyzed using reporter assays.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A total of 416 different <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content> sites in the <jats:italic><jats:styled-content style=\"fixed-case\">A</jats:styled-content>4<jats:styled-content style=\"fixed-case\">GALT</jats:styled-content></jats:italic> genes from four <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>1</jats:sub> and four <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>2</jats:sub> individuals were analyzed in the pilot investigation, and 11 <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content> sites, distributed in the <jats:italic><jats:styled-content style=\"fixed-case\">A</jats:styled-content>4<jats:styled-content style=\"fixed-case\">GALT</jats:styled-content></jats:italic> <jats:styled-content style=\"fixed-case\">I</jats:styled-content>ntron 1 region, exhibited an association with the <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>1</jats:sub>/<jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>2</jats:sub> phenotypes. In the follow‐up association study, the genotypes at the 11 <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content>s of a total of 338 individuals across four different ethnic populations were determined, and the results show that two <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content>s, rs2143918 and rs5751348, are consistently associated with the <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>1</jats:sub>/<jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>2</jats:sub> phenotypes. Reporter assays demonstrated significantly higher transcription‐inducing activity by the <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content>s bearing the <jats:italic><jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sup>1</jats:sup></jats:italic>‐allele genotype than by the <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content>s bearing the <jats:italic><jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sup>2</jats:sup></jats:italic>‐allele genotype and that the difference in transcriptional activity was determined by the different genotypes at <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content> rs5751348.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>The results of this investigation demonstrate a consistent association of <jats:italic><jats:styled-content style=\"fixed-case\">A</jats:styled-content>4<jats:styled-content style=\"fixed-case\">GALT</jats:styled-content></jats:italic> <jats:styled-content style=\"fixed-case\">SNPs</jats:styled-content> rs2143918 and rs5751348 with the <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>1</jats:sub>/<jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>2</jats:sub> phenotypes and suggest that <jats:styled-content style=\"fixed-case\">SNP</jats:styled-content> rs5751348 may lead to allelic variations in <jats:italic><jats:styled-content style=\"fixed-case\">A</jats:styled-content>4<jats:styled-content style=\"fixed-case\">GALT</jats:styled-content></jats:italic> gene expression and consequently leads to the formation of the <jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>1</jats:sub>/<jats:styled-content style=\"fixed-case\">P</jats:styled-content><jats:sub>2</jats:sub> 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