Genetics of autoimmune diseases: insights from population genetics

PS Ramos, AM Shedlock, CD Langefeld - Journal of human genetics, 2015 - nature.com
Human genetic diversity is the result of population genetic forces. This genetic variation
influences disease risk and contributes to health disparities. Autoimmune diseases (ADs) …

Human MHC architecture and evolution: implications for disease association studies

JA Traherne - International journal of immunogenetics, 2008 - Wiley Online Library
Major histocompatibility complex (MHC) variation is a key determinant of susceptibility and
resistance to a large number of infectious, autoimmune and other diseases. Identification of …

Signatures of long-term balancing selection in human genomes

BD Bitarello, C De Filippo, JC Teixeira… - Genome biology and …, 2018 - academic.oup.com
Balancing selection maintains advantageous diversity in populations through various
mechanisms. Although extensively explored from a theoretical perspective, an empirical …

Regulation of major histocompatibility complex class II gene expression, genetic variation and disease

L Handunnetthi, SV Ramagopalan, GC Ebers… - Genes & …, 2010 - nature.com
Major histocompatibility complex (MHC) class II molecules are central to adaptive immune
responses and maintenance of self-tolerance. Since the early 1970s, the MHC class II …

The signature of long-standing balancing selection at the human defensin β-1 promoter

R Cagliani, M Fumagalli, S Riva, U Pozzoli, GP Comi… - Genome Biology, 2008 - Springer
Background Defensins, small endogenous peptides with antimicrobial activity, are pivotal
components of the innate immune response. A large cluster of defensin genes is located on …

Genes associated with SLE are targets of recent positive selection

PS Ramos, SR Shaftman, RC Ward… - Autoimmune …, 2014 - Wiley Online Library
The reasons for the ethnic disparities in the prevalence of systemic lupus erythematosus
(SLE) and the relative high frequency of SLE risk alleles in the population are not fully …

Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene

R Cagliani, M Fumagalli, M Biasin, L Piacentini, S Riva… - Human Genetics, 2010 - Springer
The human TRIM5 genes encodes a retroviral restriction factor (TRIM5α). Evolutionary
analyses of this gene in mammals have revealed a complex and multifaceted scenario …

Ancient polymorphism and functional variation in the primate MHC-DQA1 5′ cis-regulatory region

DA Loisel, MV Rockman, GA Wray… - Proceedings of the …, 2006 - National Acad Sciences
Precise regulation of MHC gene expression is critical to vertebrate immune surveillance and
response. Polymorphisms in the 5′ proximal promoter region of the human class II gene …

HLA-DRB1 genes and the expression dynamics of HLA CIITA determine the susceptibility to T2DM

R Chinniah, V Sevak, S Pandi, PM Ravi, M Vijayan… - Immunogenetics, 2021 - Springer
Type 2 diabetes mellitus (T2DM) is a disease with polygenic inheritance. The expression of
major histocompatibility complex class II genes are regulated by several trans-activators. We …

[HTML][HTML] Nasopharyngeal carcinoma as a paradigm of cancer genetics

MJ Simons - Chinese journal of cancer, 2011 - ncbi.nlm.nih.gov
The unusual incidence patterns for nasopharyngeal carcinoma (NPC) in China, Northeast
India, Arctic Inuit, Peninsular and island Southeast Asia, Polynesian Islanders, and North …