If Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants
<p>Abstract</p> <p>Objective</p> <p>To study pathophysiologic pathways in spontaneous preterm birth and possibly the racial disparity associating with maternal and fetal genetic variations, using bioinformatics tools.</p> <p>Methods</p> <p>A larg...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2009-06-01
|
| Series: | Reproductive Biology and Endocrinology |
| Online Access: | http://www.rbej.com/content/7/1/62 |
| _version_ | 1818157807734620160 |
|---|---|
| author | Pearce Brad Menon Ramkumar Velez Digna R Merialdi Mario Williams Scott M Fortunato Stephen J Thorsen Poul |
| author_facet | Pearce Brad Menon Ramkumar Velez Digna R Merialdi Mario Williams Scott M Fortunato Stephen J Thorsen Poul |
| author_sort | Pearce Brad |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Objective</p> <p>To study pathophysiologic pathways in spontaneous preterm birth and possibly the racial disparity associating with maternal and fetal genetic variations, using bioinformatics tools.</p> <p>Methods</p> <p>A large scale candidate gene association study was performed on 1442 SNPs in 130 genes in a case (preterm birth < 36 weeks) control study (term birth > 37 weeks). Both maternal and fetal DNA from Caucasians (172 cases and 198 controls) and 279 African-Americans (82 cases and 197 controls) were used. A single locus association (genotypic) analysis followed by hierarchical clustering was performed, where clustering was based on p values for significant associations within each race. Using Ingenuity Pathway Analysis (IPA) software, known pathophysiologic pathways in both races were determined.</p> <p>Results</p> <p>From all SNPs entered into the analysis, the IPA mapped genes to specific disease functions. Gene variants in Caucasians were implicated in disease functions shared with other known disorders; specifically, dermatopathy, inflammation, and hematological disorders. This may reflect abnormal cervical ripening and decidual hemorrhage. In African-Americans inflammatory pathways were the most prevalent. In Caucasians, maternal gene variants showed the most prominent role in disease functions, whereas in African Americans it was fetal variants. The IPA software was used to generate molecular interaction maps that differed between races and also between maternal and fetal genetic variants.</p> <p>Conclusion</p> <p>Differences at the genetic level revealed distinct disease functions and operational pathways in African Americans and Caucasians in spontaneous preterm birth. Differences in maternal and fetal contributions in pregnancy outcome are also different between African Americans and Caucasians. These results present a set of explicit testable hypotheses regarding genetic associations with preterm birth in African Americans and Caucasians</p> |
| first_indexed | 2024-12-11T15:20:04Z |
| format | Article |
| id | doaj.art-79cf0969c4724e7bbbd241c049d51fdc |
| institution | Directory Open Access Journal |
| issn | 1477-7827 |
| language | English |
| last_indexed | 2024-12-11T15:20:04Z |
| publishDate | 2009-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Reproductive Biology and Endocrinology |
| spelling | doaj.art-79cf0969c4724e7bbbd241c049d51fdc2022-12-22T01:00:25ZengBMCReproductive Biology and Endocrinology1477-78272009-06-01716210.1186/1477-7827-7-62If Racial disparity in pathophysiologic pathways of preterm birth based on genetic variantsPearce BradMenon RamkumarVelez Digna RMerialdi MarioWilliams Scott MFortunato Stephen JThorsen Poul<p>Abstract</p> <p>Objective</p> <p>To study pathophysiologic pathways in spontaneous preterm birth and possibly the racial disparity associating with maternal and fetal genetic variations, using bioinformatics tools.</p> <p>Methods</p> <p>A large scale candidate gene association study was performed on 1442 SNPs in 130 genes in a case (preterm birth < 36 weeks) control study (term birth > 37 weeks). Both maternal and fetal DNA from Caucasians (172 cases and 198 controls) and 279 African-Americans (82 cases and 197 controls) were used. A single locus association (genotypic) analysis followed by hierarchical clustering was performed, where clustering was based on p values for significant associations within each race. Using Ingenuity Pathway Analysis (IPA) software, known pathophysiologic pathways in both races were determined.</p> <p>Results</p> <p>From all SNPs entered into the analysis, the IPA mapped genes to specific disease functions. Gene variants in Caucasians were implicated in disease functions shared with other known disorders; specifically, dermatopathy, inflammation, and hematological disorders. This may reflect abnormal cervical ripening and decidual hemorrhage. In African-Americans inflammatory pathways were the most prevalent. In Caucasians, maternal gene variants showed the most prominent role in disease functions, whereas in African Americans it was fetal variants. The IPA software was used to generate molecular interaction maps that differed between races and also between maternal and fetal genetic variants.</p> <p>Conclusion</p> <p>Differences at the genetic level revealed distinct disease functions and operational pathways in African Americans and Caucasians in spontaneous preterm birth. Differences in maternal and fetal contributions in pregnancy outcome are also different between African Americans and Caucasians. These results present a set of explicit testable hypotheses regarding genetic associations with preterm birth in African Americans and Caucasians</p>http://www.rbej.com/content/7/1/62 |
| spellingShingle | Pearce Brad Menon Ramkumar Velez Digna R Merialdi Mario Williams Scott M Fortunato Stephen J Thorsen Poul If Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants Reproductive Biology and Endocrinology |
| title | If Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants |
| title_full | If Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants |
| title_fullStr | If Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants |
| title_full_unstemmed | If Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants |
| title_short | If Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants |
| title_sort | if racial disparity in pathophysiologic pathways of preterm birth based on genetic variants |
| url | http://www.rbej.com/content/7/1/62 |
| work_keys_str_mv | AT pearcebrad ifracialdisparityinpathophysiologicpathwaysofpretermbirthbasedongeneticvariants AT menonramkumar ifracialdisparityinpathophysiologicpathwaysofpretermbirthbasedongeneticvariants AT velezdignar ifracialdisparityinpathophysiologicpathwaysofpretermbirthbasedongeneticvariants AT merialdimario ifracialdisparityinpathophysiologicpathwaysofpretermbirthbasedongeneticvariants AT williamsscottm ifracialdisparityinpathophysiologicpathwaysofpretermbirthbasedongeneticvariants AT fortunatostephenj ifracialdisparityinpathophysiologicpathwaysofpretermbirthbasedongeneticvariants AT thorsenpoul ifracialdisparityinpathophysiologicpathwaysofpretermbirthbasedongeneticvariants |