Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

Autor: Kiran Musunuru, Aldons J. Lusis, Juan Fernández-Tajes, Michelle Simon, Lydia Quaye, Peter Arner, Jordana T. Bell, Momoko Horikoshi, Avanthi Raghavan, Andrew P. Morris, Ana Viñuela, Xiao Wang, Nam Che, Ingrid Dahlman, Qiurong Ding, Mete Civelek, Matt J. Neville, Fredrik Karpe, Siddharth Sethi, Unnur Thorsteinsdottir, Calvin Pan, Kerrin S. Small, Gudmar Thorleifsson, Pei-Chien Tsai, Mark I. McCarthy, Markku Laakso, Marianne Yon, Alison Hugill, Anubha Mahajan, Anna L. Gloyn, Marijana Todorčević, Kari Stefansson, Roger D. Cox, Julia S. El-Sayed Moustafa, Alfonso Buil, Abhishek Nag, Craig A. Glastonbury

Publikováno v: Small, K S, Marijana, M, Civelek, M, El-Sayed Moustafa, J S, Wang, X, Simon, M M, Tajes, J F, Mahajan, A, Horikoshi, M, Hugill, A, Glastonbury, C A, Quaye, L, Neville, M J, Sethi, S, Yon, M, Pan, C, Che, N, Vinuela, A, Tsai, P-C, Nag, A, Buil, A, Thorleifsson, G, Raghavan, A, Ding, Q, Morris, A P, Bell, J T, Thorsteinsdottir, U, Stefansson, K, Laakso, M, Dahlman, I, Arner, P, Gloyn, A L, Musunuru, K, Lusis, A J, Cox, R D, Karpe, F & McCarthy, M I 2018, ' Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition ', Nature Genetics, vol. 50, pp. 572–580 . https://doi.org/10.1038/s41588-018-0088-x
Nature Genetics
Small, K S, Todorčević, M, Civelek, M, El-Sayed Moustafa, J S, Wang, X, Simon, M M, Fernandez-Tajes, J, Mahajan, A, Horikoshi, M, Hugill, A, Glastonbury, C A, Quaye, L, Neville, M J, Sethi, S, Yon, M, Pan, C, Che, N, Viñuela, A, Tsai, P-C, Nag, A, Buil, A, Thorleifsson, G, Raghavan, A, Ding, Q, Morris, A P, Bell, J T, Thorsteinsdottir, U, Stefansson, K, Laakso, M, Dahlman, I, Arner, P, Gloyn, A L, Musunuru, K, Lusis, A J, Cox, R D, Karpe, F & McCarthy, M I 2018, ' Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition ', Nature Genetics, vol. 50, no. 4, pp. 572-580 . https://doi.org/10.1038/s41588-018-0088-x

Individual risk of type 2 diabetes (T2D) is modified by perturbations of adipose mass, distribution and function. To investigate mechanisms responsible, we explored the molecular, cellular, and whole-body effects of T2D-associated alleles near KLF14.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2a48142a73254b78b7f405200b5b31
https://doi.org/10.1038/s41588-018-0088-x

Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.

Autor: Sumeet A Khetarpal, Andrew C Edmondson, Avanthi Raghavan, Hemanth Neeli, Weijun Jin, Karen O Badellino, Serkalem Demissie, Alisa K Manning, Stephanie L DerOhannessian, Megan L Wolfe, L Adrienne Cupples, Mingyao Li, Sekar Kathiresan, Daniel J Rader

Publikováno v: PLoS Genetics, Vol 7, Iss 12, p e1002393 (2011)

Genome-wide association studies (GWAS) have successfully identified loci associated with quantitative traits, such as blood lipids. Deep resequencing studies are being utilized to catalogue the allelic spectrum at GWAS loci. The goal of these studies

Externí odkaz: https://doaj.org/article/8463f57c46354c87b8d36d7127f06136

Sex-Differences in Select Non-communicable HIV-Associated Comorbidities: Exploring the Role of Systemic Immune Activation/Inflammation

Autor: Dodie E. Rimmelin, Kathleen V. Fitch, Avanthi Raghavan, Markella V. Zanni

The goals of this review are to (1) explore HIV-associated cardiovascular disease (CVD), neurocognitive impairment, and non-AIDS-defining cancers (NADC) as heterogeneous model disease states fuelled in part by systemic immune activation/inflammation;

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f4fdf0811508317ca8ba6999a30cb7
https://europepmc.org/articles/PMC6007989/

Abstract 97: Genotype to Phenotype: Function of Common Noncoding and Rare Coding Variants In ANGPTL3

Autor: Xiao Wang, Avanthi Raghavan, A. Christina Vourakis, Alexandra E Sperry, Wenjun Li, Wenjian Lv, Alexandra C Chadwick, Kiran Musunuru

Publikováno v: Arteriosclerosis, Thrombosis, and Vascular Biology. 37

Human genetics studies have demonstrated a strong link between ANGPTL3 , which encodes lipoprotein lipase inhibitor Angiopoietin-like 3, and blood lipid phenotypes. Rare nonsense ANGPTL3 mutations were identified in patients with familial combined hy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::99c3e7acb22ae99761df344d2112a21d
https://doi.org/10.1161/atvb.37.suppl_1.97

Loss of function of GALNT2 lowers high density lipoproteins in humans, nonhuman primates, and rodents

Autor: Hans H. Wandall, Reda Ouazzani, Rami Abou Jamra, Wei Zhao, Gayani Fernando, Henrik Clausen, Sekar Kathiresan, Eric Noé, John S. Millar, Lars Hansen, YoSon Park, Valentin Livanov, Seungbum Choi, Eric P. Bennett, Heiko Reutter, Danish Saleheen, Todd G. Kirchgessner, Cecilia Vitali, Bouhouche Ahmed, Katrine T. Schjoldager, Avanthi Raghavan, Sergey Y. Vakhrushev, Sumeet A. Khetarpal, Amritha Varshini Hanasoge Somasundara, Pritesh Patel, Gina M. Peloso, Christina Christoffersen, Christopher D. Brown, Daniel J. Rader, Andrew C. Edmondson, Eric LeGuern, Siew Peng Ho

Human genetics studies have implicated GALNT2, encoding GalNAc-T2, as a novel regulator of high-density lipoprotein cholesterol (HDL-C) metabolism, but the mechanisms relating GALNT2 to HDL-C remain unclear. We investigated the impact of homozygous G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf7a41e35616088d23c21d64ae3f89b
https://europepmc.org/articles/PMC5663192/