Identification of type 2 diabetes loci in 433,540 East Asian individuals

CN Spracklen, M Horikoshi, YJ Kim, K Lin, F Bragg… - Nature, 2020 - nature.com
Meta-analyses of genome-wide association studies (GWAS) have identified more than 240
loci that are associated with type 2 diabetes (T2D),; however, most of these loci have been …

Genome structure variation analyses of peach reveal population dynamics and a 1.67 Mb causal inversion for fruit shape

J Guan, Y Xu, Y Yu, J Fu, F Ren, J Guo, J Zhao, Q Jiang… - Genome Biology, 2021 - Springer
Abstract Background Structural variations (SVs), a major resource of genomic variation, can
have profound consequences on phenotypic variation, yet the impacts of SVs remain largely …

Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies

R Dorajoo, X Chang, RL Gurung, Z Li, L Wang… - Nature …, 2019 - nature.com
Genetic factors underlying leukocyte telomere length (LTL) may provide insights into
telomere homeostasis, with direct links to disease susceptibility. Genetic evaluation of …

Inversions encounter relaxed genetic constraints and balance birth and death of TPS genes in Curcuma

X Liao, D Xie, T Bao, M Hou, C Li, B Nie, S Sun… - Nature …, 2024 - nature.com
Evolutionary dynamics of inversion and its impact on biochemical traits are a puzzling
question. Here, we show abundance of inversions in three Curcuma species (turmeric …

Evolutionary and functional impact of common polymorphic inversions in the human genome

C Giner-Delgado, S Villatoro, J Lerga-Jaso… - Nature …, 2019 - nature.com
Inversions are one type of structural variants linked to phenotypic differences and adaptation
in multiple organisms. However, there is still very little information about polymorphic …

The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

N Carreras-Gallo, A Cáceres, L Balagué-Dobón… - Communications …, 2022 - nature.com
Polymorphic genomic inversions are chromosomal variants with intrinsic variability that play
important roles in evolution, environmental adaptation, and complex traits. We investigated …

Systems genetic analysis of inversion polymorphisms in the malaria mosquito Anopheles gambiae

C Cheng, JC Tan, MW Hahn… - Proceedings of the …, 2018 - National Acad Sciences
Inversion polymorphisms in the African malaria vector Anopheles gambiae segregate along
climatic gradients of aridity. Despite indirect evidence of their adaptive significance, little is …

Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

M Puig, J Lerga-Jaso, C Giner-Delgado… - Genome …, 2020 - genome.cshlp.org
Despite the interest in characterizing genomic variation, the presence of large repeats at the
breakpoints hinders the analysis of many structural variants. This is especially problematic …

Progress in defining the genetic contribution to type 2 diabetes in individuals of East Asian ancestry

CN Spracklen, X Sim - Current Diabetes Reports, 2021 - Springer
Abstract Purpose of Review Prevalence of type 2 diabetes (T2D) and progression of
complications differ between worldwide populations. While obesity is a major contributing …

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

A Alexandrou, N Salameh, I Papaevripidou… - Molecular …, 2023 - Springer
Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal
disorder characterized by the development of multiple, circumscript and usually symmetric …