Identification of non-coding silencer elements and their regulation of gene expression

B Pang, JH van Weerd, FL Hamoen… - … Reviews Molecular Cell …, 2023 - nature.com
Cell type-and differentiation-specific gene expression is precisely controlled by genomic non-
coding regulatory elements (NCREs), which include promoters, enhancers, silencers and …

Finding the missing heritability of complex diseases

TA Manolio, FS Collins, NJ Cox, DB Goldstein… - Nature, 2009 - nature.com
Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

K Michailidou, J Beesley, S Lindstrom, S Canisius… - Nature …, 2015 - nature.com
Genome-wide association studies (GWAS) and large-scale replication studies have
identified common variants in 79 loci associated with breast cancer, explaining∼ 14% of the …

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

RL Milne, KB Kuchenbaecker, K Michailidou… - Nature …, 2017 - nature.com
Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

JRB Perry, F Day, CE Elks, P Sulem, DJ Thompson… - Nature, 2014 - nature.com
Age at menarche is a marker of timing of puberty in females. It varies widely between
individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes …

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

Y Sapkota, V Steinthorsdottir, AP Morris… - Nature …, 2017 - nature.com
Endometriosis is a heritable hormone-dependent gynecological disorder, associated with
severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely …

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

K Michailidou, P Hall, A Gonzalez-Neira… - Nature …, 2013 - nature.com
Breast cancer is the most common cancer among women. Common variants at 27 loci have
been identified as associated with susceptibility to breast cancer, and these account for∼ …

Hereditary breast cancer: the era of new susceptibility genes

P Apostolou, F Fostira - BioMed research international, 2013 - Wiley Online Library
Breast cancer is the most common malignancy among females. 5%–10% of breast cancer
cases are hereditary and are caused by pathogenic mutations in the considered reference …

Genome-wide association study identifies five new breast cancer susceptibility loci

C Turnbull, S Ahmed, J Morrison, D Pernet… - Nature …, 2010 - nature.com
Breast cancer is the most common cancer in women in developed countries. To identify
common breast cancer susceptibility alleles, we conducted a genome-wide association …

Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis

U Peters, S Jiao, FR Schumacher, CM Hutter… - Gastroenterology, 2013 - Elsevier
BACKGROUND & AIMS: Heritable factors contribute to the development of colorectal
cancer. Identifying the genetic loci associated with colorectal tumor formation could …