Ekaterina E Markelova, Irina V Kononenko, Anatoliy Zubritskiy, Elizaveta Podshivalova, Alina Matrosova, Evgeniya Plaksina, Saleem Mansour, Pavel Ahtyamov, Elena Shagimardanova, Gulnar R Vagapova, Nadezhda Maksimova, Liubov A Sydykova, Diana S Avzaletdinova, Tatyana V Morugova, Petimat M Dzhambetova, Marina V Shestakova, Natalia G Mokrysheva, Yulia A Medvedeva
{"title":"2型糖尿病在俄罗斯祖先群体中的遗传和表型异质性。","authors":"Ekaterina E Markelova, Irina V Kononenko, Anatoliy Zubritskiy, Elizaveta Podshivalova, Alina Matrosova, Evgeniya Plaksina, Saleem Mansour, Pavel Ahtyamov, Elena Shagimardanova, Gulnar R Vagapova, Nadezhda Maksimova, Liubov A Sydykova, Diana S Avzaletdinova, Tatyana V Morugova, Petimat M Dzhambetova, Marina V Shestakova, Natalia G Mokrysheva, Yulia A Medvedeva","doi":"10.3389/fendo.2025.1672403","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Type 2 diabetes mellitus (T2D) is a highly polygenic disease involving multiple biological pathways. Genetic ancestry may influence the predominant mechanisms driving T2D. Understanding how genetic background shapes T2D risk is crucial for developing personalized prevention and treatment strategies.</p><p><strong>Methods: </strong>We analyzed ancestry-specific differences in T2D mechanisms and assessed the prevalence of T2D-associated genetic clusters, reflecting biological mechanisms underlying T2D onset and progression, in individuals from three Russian ancestry groups: Chechens, Tatars, and Yakuts. Previously developed polygenic scores were applied to evaluate cluster prevalence and clinical risk factors across ancestry groups.</p><p><strong>Results: </strong>Cluster-specific polygenic scores varied significantly between populations. Yakuts exhibited higher scores for β-cell dysfunction, hyper-insulin secretion, and lipid metabolism alterations, whereas Chechens and Tatars had higher scores for obesity-related mechanisms.</p><p><strong>Discussion/conclusions: </strong>The predominant mechanisms underlying T2D differ across populations. These ancestry-specific differences should be considered in public health recommendations and personalized medicine approaches.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1672403"},"PeriodicalIF":4.6000,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12457129/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genetic and phenotypic heterogeneity of type 2 diabetes across Russian ancestry groups.\",\"authors\":\"Ekaterina E Markelova, Irina V Kononenko, Anatoliy Zubritskiy, Elizaveta Podshivalova, Alina Matrosova, Evgeniya Plaksina, Saleem Mansour, Pavel Ahtyamov, Elena Shagimardanova, Gulnar R Vagapova, Nadezhda Maksimova, Liubov A Sydykova, Diana S Avzaletdinova, Tatyana V Morugova, Petimat M Dzhambetova, Marina V Shestakova, Natalia G Mokrysheva, Yulia A Medvedeva\",\"doi\":\"10.3389/fendo.2025.1672403\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Type 2 diabetes mellitus (T2D) is a highly polygenic disease involving multiple biological pathways. Genetic ancestry may influence the predominant mechanisms driving T2D. Understanding how genetic background shapes T2D risk is crucial for developing personalized prevention and treatment strategies.</p><p><strong>Methods: </strong>We analyzed ancestry-specific differences in T2D mechanisms and assessed the prevalence of T2D-associated genetic clusters, reflecting biological mechanisms underlying T2D onset and progression, in individuals from three Russian ancestry groups: Chechens, Tatars, and Yakuts. Previously developed polygenic scores were applied to evaluate cluster prevalence and clinical risk factors across ancestry groups.</p><p><strong>Results: </strong>Cluster-specific polygenic scores varied significantly between populations. Yakuts exhibited higher scores for β-cell dysfunction, hyper-insulin secretion, and lipid metabolism alterations, whereas Chechens and Tatars had higher scores for obesity-related mechanisms.</p><p><strong>Discussion/conclusions: </strong>The predominant mechanisms underlying T2D differ across populations. These ancestry-specific differences should be considered in public health recommendations and personalized medicine approaches.</p>\",\"PeriodicalId\":12447,\"journal\":{\"name\":\"Frontiers in Endocrinology\",\"volume\":\"16 \",\"pages\":\"1672403\"},\"PeriodicalIF\":4.6000,\"publicationDate\":\"2025-09-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12457129/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Frontiers in Endocrinology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3389/fendo.2025.1672403\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Endocrinology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/fendo.2025.1672403","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Genetic and phenotypic heterogeneity of type 2 diabetes across Russian ancestry groups.
Introduction: Type 2 diabetes mellitus (T2D) is a highly polygenic disease involving multiple biological pathways. Genetic ancestry may influence the predominant mechanisms driving T2D. Understanding how genetic background shapes T2D risk is crucial for developing personalized prevention and treatment strategies.
Methods: We analyzed ancestry-specific differences in T2D mechanisms and assessed the prevalence of T2D-associated genetic clusters, reflecting biological mechanisms underlying T2D onset and progression, in individuals from three Russian ancestry groups: Chechens, Tatars, and Yakuts. Previously developed polygenic scores were applied to evaluate cluster prevalence and clinical risk factors across ancestry groups.
Results: Cluster-specific polygenic scores varied significantly between populations. Yakuts exhibited higher scores for β-cell dysfunction, hyper-insulin secretion, and lipid metabolism alterations, whereas Chechens and Tatars had higher scores for obesity-related mechanisms.
Discussion/conclusions: The predominant mechanisms underlying T2D differ across populations. These ancestry-specific differences should be considered in public health recommendations and personalized medicine approaches.
期刊介绍：
Frontiers in Endocrinology is a field journal of the "Frontiers in" journal series.
In today’s world, endocrinology is becoming increasingly important as it underlies many of the challenges societies face - from obesity and diabetes to reproduction, population control and aging. Endocrinology covers a broad field from basic molecular and cellular communication through to clinical care and some of the most crucial public health issues. The journal, thus, welcomes outstanding contributions in any domain of endocrinology.
Frontiers in Endocrinology publishes articles on the most outstanding discoveries across a wide research spectrum of Endocrinology. The mission of Frontiers in Endocrinology is to bring all relevant Endocrinology areas together on a single platform.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
