Unidad de Investigación de Enfermedades Metabólicas.
Dirección de Investigación, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán.
Curr Opin Nephrol Hypertens. 2023 Sep 1;32(5):445-450. doi: 10.1097/MNH.0000000000000914. Epub 2023 Jul 6.
The aim of this study was to summarize the existing evidence that proves the association between an ethnic-specific SLC16A11 risk haplotype and type 2 diabetes found in the Latin American population.
The association has been replicated in consortia studies, especially in early-onset type 2 diabetes. No association has been found with gestational diabetes. Mild obesity-related diabetes is the most common T2D subphenotype found in patients with the risk haplotype. The SLC16A11 risk haplotype is associated with decreased insulin action, higher acute insulin secretory response to an intravenous glucose bolus and higher serum alanine aminotransferase levels.
The study of underrepresented populations in large genomic databases is a valuable resource to gain new knowledge about the pathophysiology of complex traits, especially if these groups have suffered repeated selection process caused by famine, migrations and war. This is the case of diabetes, obesity and lipid disorders in Latin American countries. Here, we summarize the existing evidence of a proof-of concept finding: the association between the SLC16A11 ethnic-specific risk haplotype and T2D.
目的综述：本研究旨在总结现有的证据，证明在拉丁美洲人群中发现的特定于种族的 SLC16A11 风险单倍型与 2 型糖尿病之间存在关联。
最新发现：该关联已在联盟研究中得到复制，尤其是在 2 型糖尿病的早发患者中。尚未发现与妊娠糖尿病相关。与肥胖相关的轻度糖尿病是携带风险单倍型的患者中最常见的 2 型糖尿病亚表型。SLC16A11 风险单倍型与胰岛素作用降低、静脉葡萄糖冲击后急性胰岛素分泌反应增加和血清丙氨酸氨基转移酶水平升高有关。
总结：在大型基因组数据库中对代表性不足的人群进行研究是获得有关复杂特征病理生理学新知识的宝贵资源，特别是如果这些人群因饥荒、移民和战争而遭受了多次选择过程。这就是拉丁美洲国家的糖尿病、肥胖症和脂质紊乱的情况。在这里，我们总结了现有证据，证明了 SLC16A11 特定于种族的风险单倍型与 T2D 之间存在关联。
