Divya Rai, Saptaparni De, Debashruti Das, Shishir Tamang, Kumaresh Mandal, Soni Subba, L. Suhasini Sahithi, Alla G. Reddy, Periyasamy Govindaraj, Kumarasamy Thangaraj, Gyaneshwer Chaubey, Rakesh Tamang
{"title":"印度喜马拉雅人群中EPHX1低活性相关基因型的流行","authors":"Divya Rai, Saptaparni De, Debashruti Das, Shishir Tamang, Kumaresh Mandal, Soni Subba, L. Suhasini Sahithi, Alla G. Reddy, Periyasamy Govindaraj, Kumarasamy Thangaraj, Gyaneshwer Chaubey, Rakesh Tamang","doi":"10.1002/ajhb.70148","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Objectives</h3>\n \n <p>The <i>EPHX1</i> gene encodes human microsomal epoxide hydrolase 1, which helps in biotransformation processes. Its activity is influenced by combinations of genotypes at its polymorphic sites. There are no data on the <i>EPHX1</i> gene variants in the Indian Himalayan and adjoining populations (HAAPs). Therefore, this study aims to investigate the activity-associated genotypes of the <i>EPHX1</i> gene variants in the HAAPs.</p>\n </section>\n \n <section>\n \n <h3> Materials and Methods</h3>\n \n <p>The EPHX1 activity-associated variants, located in exon 3 (Tyr113His) and exon 4 (His139Arg), were analyzed among 607 samples from 16 different HAAPs. Genotype data from previously published 14 Indian populations were combined and evaluated for pan-India comparison.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>We observed the prevalence of low EPHX1 activity-associated genotypes compared to the intermediate and high activity combinations in the HAAPs. There was a significant difference (<i>p</i> < 0.05) between the HAAPs and the reference Indian population based on variants in the <i>EPHX1</i> gene. Comparison based on linguistic affiliation revealed that low EPHX1 activity-related genotypes were significantly higher in frequency among Tibeto-Burman speaking HAAPs (<i>p</i> < 0.001), followed by the other three major linguistic groups in India.</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>Our study highlights the variations in both the studied loci among the HAAPs. We observed the widespread presence of low-activity-associated genotypes of the <i>EPHX1</i> gene in the HAAPs. The pan-India comparison revealed the highest prevalence of low-activity-associated genotypes among the Tibeto-Burman speaking HAAPs compared to other linguistic groups. In the future, high-resolution genetic and molecular studies on EPHX1 are necessary to corroborate this finding and better understand human health holistically.</p>\n </section>\n </div>","PeriodicalId":50809,"journal":{"name":"American Journal of Human Biology","volume":"37 9","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prevalence of Low EPHX1 Activity-Associated Genotypes in Himalayan Populations of India\",\"authors\":\"Divya Rai, Saptaparni De, Debashruti Das, Shishir Tamang, Kumaresh Mandal, Soni Subba, L. Suhasini Sahithi, Alla G. Reddy, Periyasamy Govindaraj, Kumarasamy Thangaraj, Gyaneshwer Chaubey, Rakesh Tamang\",\"doi\":\"10.1002/ajhb.70148\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Objectives</h3>\\n \\n <p>The <i>EPHX1</i> gene encodes human microsomal epoxide hydrolase 1, which helps in biotransformation processes. Its activity is influenced by combinations of genotypes at its polymorphic sites. There are no data on the <i>EPHX1</i> gene variants in the Indian Himalayan and adjoining populations (HAAPs). Therefore, this study aims to investigate the activity-associated genotypes of the <i>EPHX1</i> gene variants in the HAAPs.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Materials and Methods</h3>\\n \\n <p>The EPHX1 activity-associated variants, located in exon 3 (Tyr113His) and exon 4 (His139Arg), were analyzed among 607 samples from 16 different HAAPs. Genotype data from previously published 14 Indian populations were combined and evaluated for pan-India comparison.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>We observed the prevalence of low EPHX1 activity-associated genotypes compared to the intermediate and high activity combinations in the HAAPs. There was a significant difference (<i>p</i> < 0.05) between the HAAPs and the reference Indian population based on variants in the <i>EPHX1</i> gene. Comparison based on linguistic affiliation revealed that low EPHX1 activity-related genotypes were significantly higher in frequency among Tibeto-Burman speaking HAAPs (<i>p</i> < 0.001), followed by the other three major linguistic groups in India.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusion</h3>\\n \\n <p>Our study highlights the variations in both the studied loci among the HAAPs. We observed the widespread presence of low-activity-associated genotypes of the <i>EPHX1</i> gene in the HAAPs. The pan-India comparison revealed the highest prevalence of low-activity-associated genotypes among the Tibeto-Burman speaking HAAPs compared to other linguistic groups. In the future, high-resolution genetic and molecular studies on EPHX1 are necessary to corroborate this finding and better understand human health holistically.</p>\\n </section>\\n </div>\",\"PeriodicalId\":50809,\"journal\":{\"name\":\"American Journal of Human Biology\",\"volume\":\"37 9\",\"pages\":\"\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2025-09-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Human Biology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/ajhb.70148\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ANTHROPOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Human Biology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ajhb.70148","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ANTHROPOLOGY","Score":null,"Total":0}
Prevalence of Low EPHX1 Activity-Associated Genotypes in Himalayan Populations of India
Objectives
The EPHX1 gene encodes human microsomal epoxide hydrolase 1, which helps in biotransformation processes. Its activity is influenced by combinations of genotypes at its polymorphic sites. There are no data on the EPHX1 gene variants in the Indian Himalayan and adjoining populations (HAAPs). Therefore, this study aims to investigate the activity-associated genotypes of the EPHX1 gene variants in the HAAPs.
Materials and Methods
The EPHX1 activity-associated variants, located in exon 3 (Tyr113His) and exon 4 (His139Arg), were analyzed among 607 samples from 16 different HAAPs. Genotype data from previously published 14 Indian populations were combined and evaluated for pan-India comparison.
Results
We observed the prevalence of low EPHX1 activity-associated genotypes compared to the intermediate and high activity combinations in the HAAPs. There was a significant difference (p < 0.05) between the HAAPs and the reference Indian population based on variants in the EPHX1 gene. Comparison based on linguistic affiliation revealed that low EPHX1 activity-related genotypes were significantly higher in frequency among Tibeto-Burman speaking HAAPs (p < 0.001), followed by the other three major linguistic groups in India.
Conclusion
Our study highlights the variations in both the studied loci among the HAAPs. We observed the widespread presence of low-activity-associated genotypes of the EPHX1 gene in the HAAPs. The pan-India comparison revealed the highest prevalence of low-activity-associated genotypes among the Tibeto-Burman speaking HAAPs compared to other linguistic groups. In the future, high-resolution genetic and molecular studies on EPHX1 are necessary to corroborate this finding and better understand human health holistically.
期刊介绍：
The American Journal of Human Biology is the Official Journal of the Human Biology Association.
The American Journal of Human Biology is a bimonthly, peer-reviewed, internationally circulated journal that publishes reports of original research, theoretical articles and timely reviews, and brief communications in the interdisciplinary field of human biology. As the official journal of the Human Biology Association, the Journal also publishes abstracts of research presented at its annual scientific meeting and book reviews relevant to the field.
The Journal seeks scholarly manuscripts that address all aspects of human biology, health, and disease, particularly those that stress comparative, developmental, ecological, or evolutionary perspectives. The transdisciplinary areas covered in the Journal include, but are not limited to, epidemiology, genetic variation, population biology and demography, physiology, anatomy, nutrition, growth and aging, physical performance, physical activity and fitness, ecology, and evolution, along with their interactions. The Journal publishes basic, applied, and methodologically oriented research from all areas, including measurement, analytical techniques and strategies, and computer applications in human biology.
Like many other biologically oriented disciplines, the field of human biology has undergone considerable growth and diversification in recent years, and the expansion of the aims and scope of the Journal is a reflection of this growth and membership diversification.
The Journal is committed to prompt review, and priority publication is given to manuscripts with novel or timely findings, and to manuscripts of unusual interest.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
