[HTML][HTML] The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …
created a critical need to experimentally validate the disease-associated variants, 90% of …
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
[HTML][HTML] Genetic, epigenetic, and steroidogenic modulation mechanisms in endometriosis
A Zubrzycka, M Zubrzycki, E Perdas… - Journal of clinical …, 2020 - mdpi.com
Endometriosis is a chronic gynecological disease, affecting up to 10% of reproductive-age
women. The exact cause of the disease is unknown; however, it is a heritable condition …
women. The exact cause of the disease is unknown; however, it is a heritable condition …
[HTML][HTML] Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism
Endometriosis is a heritable hormone-dependent gynecological disorder, associated with
severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely …
severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely …
[HTML][HTML] Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis
CS Gallagher, N Mäkinen, HR Harris… - Nature …, 2019 - nature.com
Uterine leiomyomata (UL) are the most common neoplasms of the female reproductive tract
and primary cause for hysterectomy, leading to considerable morbidity and high economic …
and primary cause for hysterectomy, leading to considerable morbidity and high economic …
[PDF][PDF] A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes
Endometriosis is associated with increased risk of epithelial ovarian cancers (EOCs). Using
data from large endometriosis and EOC genome-wide association meta-analyses, we …
data from large endometriosis and EOC genome-wide association meta-analyses, we …
[PDF][PDF] An osteoporosis risk SNP at 1p36. 12 acts as an allele-specific enhancer to modulate LINC00339 expression via long-range loop formation
XF Chen, DL Zhu, M Yang, WX Hu, YY Duan… - The American Journal of …, 2018 - cell.com
Genome-wide association studies (GWASs) have reproducibly associated variants within
intergenic regions of 1p36. 12 locus with osteoporosis, but the functional roles underlying …
intergenic regions of 1p36. 12 locus with osteoporosis, but the functional roles underlying …
Long noncoding RNA Linc00339 promotes triple‐negative breast cancer progression through miR‐377‐3p/HOXC6 signaling pathway
Recently, long noncoding RNAs (lncRNAs) have become the key gene regulators and
prognostic biomarkers in various cancers. Through microarray data, Linc00339 was …
prognostic biomarkers in various cancers. Through microarray data, Linc00339 was …
New concepts on the etiology of endometriosis
Endometriosis is a serious, chronic disorder where endometrial tissue grows outside the
uterus, causing severe pelvic pain and infertility. It affects 11% of women. Endometriosis is a …
uterus, causing severe pelvic pain and infertility. It affects 11% of women. Endometriosis is a …
Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability
N Välimäki, H Kuisma, A Pasanen, O Heikinheimo… - Elife, 2018 - elifesciences.org
Uterine leiomyomas (ULs) are benign tumors that are a major burden to women's health. A
genome-wide association study on 15,453 UL cases and 392,628 controls was performed …
genome-wide association study on 15,453 UL cases and 392,628 controls was performed …