FRANCISCO JAVIER BORRAYO-LÓPEZ, BERTHA IBARRA-CORTÉS, FRANCISCO JAVIER PEREA-DÍAZ, ABRIL IXCHEL MUÑOZ-ZÚÑIGA, HÉCTOR MONTOYA-FUENTES, JANETH MARGARITA SOTO-PADILLA, LOURDES DEL CARMEN RIZO-DE LA TORRE
{"title":"胎儿血红蛋白升高、预后不良以及遗传变异 HBG2 rs7482144、HBS1L-MYB rs9399137 和 BCL11A rs4671393 在 ALL 儿童中的保护作用","authors":"FRANCISCO JAVIER BORRAYO-LÓPEZ, BERTHA IBARRA-CORTÉS, FRANCISCO JAVIER PEREA-DÍAZ, ABRIL IXCHEL MUÑOZ-ZÚÑIGA, HÉCTOR MONTOYA-FUENTES, JANETH MARGARITA SOTO-PADILLA, LOURDES DEL CARMEN RIZO-DE LA TORRE","doi":"10.1007/s12041-024-01470-0","DOIUrl":null,"url":null,"abstract":"<p>In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (<i>BCL11A</i>), HBS1L-MYB transcriptional GTPase intergenic region (<i>HBS1L-MYB</i>), Krüppel-like factor 1 (<i>KLF1</i>), haemoglobin gamma subunit 2 (<i>HBG2</i>), haemoglobin gamma subunit 1 (<i>HBG1</i>), and haemoglobin subunit beta pseudogene 1 (<i>HBBP1</i>) are often associated with elevated HbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL. We quantified HbF concentration and genotyped 17 genetic variants in 48 patients with ALL and 64 children without ALL as a reference group. HbF concentration was higher in patients than in the reference group (4.4% vs 1.4%), and 75% (<i>n</i> = 36) of the patients had HbF > 2.5%. Unfavourable prognosis ALL was established in 68.8% (<i>n</i> = 33) of the patients. Variant <i>HBG2</i> rs7482144 was associated with high HbF concentration (<i>P</i> = 0.015); while <i>HBS1L</i>-<i>MYB</i> rs9399137 (<i>P</i> = 0.001), <i>HBG2</i> rs7482144 (<i>P</i> = 0.001) and the β-globin genes <i>HBG2</i>, <i>HBG1</i>, and <i>HBPP1</i> haplotype TGC (<i>P</i> = 0.017) with unfavourable prognosis ALL. Additionally, variant <i>BCL11A</i> rs4671393 showed a protective role (<i>P</i> = 0.0001). In conclusion, variants <i>HBG2</i> rs7482144, <i>HBS1L</i>-<i>MYB</i> rs9399137 and <i>BCL11A</i> rs4671393 may play a significant role in ALL.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":null,"pages":null},"PeriodicalIF":2.9000,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in children with ALL\",\"authors\":\"FRANCISCO JAVIER BORRAYO-LÓPEZ, BERTHA IBARRA-CORTÉS, FRANCISCO JAVIER PEREA-DÍAZ, ABRIL IXCHEL MUÑOZ-ZÚÑIGA, HÉCTOR MONTOYA-FUENTES, JANETH MARGARITA SOTO-PADILLA, LOURDES DEL CARMEN RIZO-DE LA TORRE\",\"doi\":\"10.1007/s12041-024-01470-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (<i>BCL11A</i>), HBS1L-MYB transcriptional GTPase intergenic region (<i>HBS1L-MYB</i>), Krüppel-like factor 1 (<i>KLF1</i>), haemoglobin gamma subunit 2 (<i>HBG2</i>), haemoglobin gamma subunit 1 (<i>HBG1</i>), and haemoglobin subunit beta pseudogene 1 (<i>HBBP1</i>) are often associated with elevated HbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL. We quantified HbF concentration and genotyped 17 genetic variants in 48 patients with ALL and 64 children without ALL as a reference group. HbF concentration was higher in patients than in the reference group (4.4% vs 1.4%), and 75% (<i>n</i> = 36) of the patients had HbF > 2.5%. Unfavourable prognosis ALL was established in 68.8% (<i>n</i> = 33) of the patients. Variant <i>HBG2</i> rs7482144 was associated with high HbF concentration (<i>P</i> = 0.015); while <i>HBS1L</i>-<i>MYB</i> rs9399137 (<i>P</i> = 0.001), <i>HBG2</i> rs7482144 (<i>P</i> = 0.001) and the β-globin genes <i>HBG2</i>, <i>HBG1</i>, and <i>HBPP1</i> haplotype TGC (<i>P</i> = 0.017) with unfavourable prognosis ALL. Additionally, variant <i>BCL11A</i> rs4671393 showed a protective role (<i>P</i> = 0.0001). In conclusion, variants <i>HBG2</i> rs7482144, <i>HBS1L</i>-<i>MYB</i> rs9399137 and <i>BCL11A</i> rs4671393 may play a significant role in ALL.</p>\",\"PeriodicalId\":15907,\"journal\":{\"name\":\"Journal of Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2024-04-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1007/s12041-024-01470-0\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"EDUCATION & EDUCATIONAL RESEARCH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s12041-024-01470-0","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"EDUCATION & EDUCATIONAL RESEARCH","Score":null,"Total":0}
Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in children with ALL
In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (BCL11A), HBS1L-MYB transcriptional GTPase intergenic region (HBS1L-MYB), Krüppel-like factor 1 (KLF1), haemoglobin gamma subunit 2 (HBG2), haemoglobin gamma subunit 1 (HBG1), and haemoglobin subunit beta pseudogene 1 (HBBP1) are often associated with elevated HbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL. We quantified HbF concentration and genotyped 17 genetic variants in 48 patients with ALL and 64 children without ALL as a reference group. HbF concentration was higher in patients than in the reference group (4.4% vs 1.4%), and 75% (n = 36) of the patients had HbF > 2.5%. Unfavourable prognosis ALL was established in 68.8% (n = 33) of the patients. Variant HBG2 rs7482144 was associated with high HbF concentration (P = 0.015); while HBS1L-MYB rs9399137 (P = 0.001), HBG2 rs7482144 (P = 0.001) and the β-globin genes HBG2, HBG1, and HBPP1 haplotype TGC (P = 0.017) with unfavourable prognosis ALL. Additionally, variant BCL11A rs4671393 showed a protective role (P = 0.0001). In conclusion, variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 may play a significant role in ALL.
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The journal retains its traditional interest in evolutionary research that is of relevance to geneticists, even if this is not explicitly genetical in nature. The journal covers all areas of genetics and evolution,including molecular genetics and molecular evolution.It publishes papers and review articles on current topics, commentaries and essayson ideas and trends in genetics and evolutionary biology, historical developments, debates and book reviews. From 2010 onwards, the journal has published a special category of papers termed ‘Online Resources’. These are brief reports on the development and the routine use of molecular markers for assessing genetic variability within and among species. Also published are reports outlining pedagogical approaches in genetics teaching.
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