Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans
Background and Objectives. Uridine diphospho-glucuronosyltransferase 2B (UGT2B) is a family of genes involved in metabolizing steroid hormones and several other xenobiotics. These UGT2B genes are highly polymorphic in nature and have distinct polymorphisms associated with specific regions around the...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Journal of Nucleic Acids |
| Online Access: | http://dx.doi.org/10.1155/2016/1648527 |
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| author | Avinash M. Veerappa Prakash Padakannaya Nallur B. Ramachandra |
| author_facet | Avinash M. Veerappa Prakash Padakannaya Nallur B. Ramachandra |
| author_sort | Avinash M. Veerappa |
| collection | DOAJ |
| description | Background and Objectives. Uridine diphospho-glucuronosyltransferase 2B (UGT2B) is a family of genes involved in metabolizing steroid hormones and several other xenobiotics. These UGT2B genes are highly polymorphic in nature and have distinct polymorphisms associated with specific regions around the globe. Copy number variations (CNVs) status of UGT2B17 in Indian population is not known and their disease associations have been inconclusive. It was therefore of interest to investigate the CNV profile of UGT2B genes. Methods. We investigated the presence of CNVs in UGT2B genes in 31 members from eight Indian families using Affymetrix Genome-Wide Human SNP Array 6.0 chip. Results. Our data revealed >50% of the study members carried CNVs in UGT2B genes, of which 76% showed deletion polymorphism. CNVs were observed more in UGT2B17 (76.4%) than in UGT2B15 (17.6%). Molecular network and pathway analysis found enrichment related to steroid metabolic process, carboxylesterase activity, and sequence specific DNA binding. Interpretation and Conclusion. We report the presence of UGT2B gene deletion and duplication polymorphisms in Indian families. Network analysis indicates the substitutive role of other possible genes in the UGT activity. The CNVs of UGT2B genes are very common in individuals indicating that the effect is neutral in causing any suspected diseases. |
| format | Article |
| id | doaj-art-3f1a094fdd8040cd97e297aba5c9dea0 |
| institution | Kabale University |
| issn | 2090-0201 2090-021X |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Nucleic Acids |
| spelling | doaj-art-3f1a094fdd8040cd97e297aba5c9dea02025-02-03T05:43:43ZengWileyJournal of Nucleic Acids2090-02012090-021X2016-01-01201610.1155/2016/16485271648527Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome ScansAvinash M. Veerappa0Prakash Padakannaya1Nallur B. Ramachandra2Genetics and Genomics Lab, Department of Studies in Genetics and Genomics, University of Mysore, Manasagangotri, Mysore 570 006, IndiaDepartment of Studies in Psychology, University of Mysore, Manasagangotri, Mysore 570 006, IndiaGenetics and Genomics Lab, Department of Studies in Genetics and Genomics, University of Mysore, Manasagangotri, Mysore 570 006, IndiaBackground and Objectives. Uridine diphospho-glucuronosyltransferase 2B (UGT2B) is a family of genes involved in metabolizing steroid hormones and several other xenobiotics. These UGT2B genes are highly polymorphic in nature and have distinct polymorphisms associated with specific regions around the globe. Copy number variations (CNVs) status of UGT2B17 in Indian population is not known and their disease associations have been inconclusive. It was therefore of interest to investigate the CNV profile of UGT2B genes. Methods. We investigated the presence of CNVs in UGT2B genes in 31 members from eight Indian families using Affymetrix Genome-Wide Human SNP Array 6.0 chip. Results. Our data revealed >50% of the study members carried CNVs in UGT2B genes, of which 76% showed deletion polymorphism. CNVs were observed more in UGT2B17 (76.4%) than in UGT2B15 (17.6%). Molecular network and pathway analysis found enrichment related to steroid metabolic process, carboxylesterase activity, and sequence specific DNA binding. Interpretation and Conclusion. We report the presence of UGT2B gene deletion and duplication polymorphisms in Indian families. Network analysis indicates the substitutive role of other possible genes in the UGT activity. The CNVs of UGT2B genes are very common in individuals indicating that the effect is neutral in causing any suspected diseases.http://dx.doi.org/10.1155/2016/1648527 |
| spellingShingle | Avinash M. Veerappa Prakash Padakannaya Nallur B. Ramachandra Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans Journal of Nucleic Acids |
| title | Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans |
| title_full | Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans |
| title_fullStr | Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans |
| title_full_unstemmed | Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans |
| title_short | Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans |
| title_sort | copy number variation of ugt 2b genes in indian families using whole genome scans |
| url | http://dx.doi.org/10.1155/2016/1648527 |
| work_keys_str_mv | AT avinashmveerappa copynumbervariationofugt2bgenesinindianfamiliesusingwholegenomescans AT prakashpadakannaya copynumbervariationofugt2bgenesinindianfamiliesusingwholegenomescans AT nallurbramachandra copynumbervariationofugt2bgenesinindianfamiliesusingwholegenomescans |