Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
In recent years, genome-wide association studies have identified 58 independent risk loci for coronary artery disease (CAD) on the autosome. However, due to the sex-specific data structure of the X chromosome, it has been excluded from most of these analyses. While females have 2 copies of chromosome X, males have only one. Also, one of the female X chromosomes may be inactivated. Therefore, special test statistics and quality control procedures are required. Thus, little is known about the role of X-chromosomal variants in CAD. To fill this gap, we conducted a comprehensive X-chromosome-wide meta-analysis including more than 43,000 CAD cases and 58,000 controls from 35 international study cohorts. For quality control, sex-specific filters were used to adequately take the special structure of X-chromosomal data into account. For single study analyses, several logistic regression models were calculated allowing for inactivation of one female X-chromosome, adjusting for sex and investigating interactions between sex and genetic variants. Then, meta-analyses including all 35 studies were conducted using random effects models. None of the investigated models revealed genome-wide significant associations for any variant. Although we analyzed the largest-to-date sample, currently available methods were not able to detect any associations of X-chromosomal variants with CAD.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059659 | PMC |
| http://dx.doi.org/10.1038/srep35278 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis.
Nat Commun
July 2025
Institute of Reproductive Genetics, Centre of Medical Genetics, University of Münster, Münster, Germany.
In eukaryotes, the nucleocytoplasmic export of bulk poly(A)-mRNAs through the nuclear pore complex is mediated by the ubiquitously expressed NXT1-NXF1 heterodimer. In humans, NXT1 has an X-chromosomal paralog, NXT2, which exhibits testis-enriched expression, suggesting a role in spermatogenesis. Here, we report the in vivo interaction of NXT2 with crucial components of the nuclear export machinery, including NXF1, the testis-specific NXF1 paralogs NXF2 and NXF3, and nuclear pore complex proteins.
View Article and Find Full Text PDFClustered Structural Variants Involving PHEX at Xp22 in a Female Patient with X-Linked Hypophosphatemia.
Cytogenet Genome Res
July 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Introduction: X chromosomal structural changes involving PHEX result in X-linked hypophosphatemia (XLH). However, their underlying mechanisms were poorly determined. Moreover, X chromosome inactivation (XCI) statuses in female patients with XLH remain to be studied.
View Article and Find Full Text PDFNovel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.
J Inherit Metab Dis
May 2025
Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Urea cycle disorders (UCDs) are inherited diseases causing recurrent life-threatening metabolic decompensations due to impaired hepatic ammonia detoxification and decreased ureagenesis. Ornithine transcarbamylase (OTC) deficiency (OTCD) is X-linked and the most common and often fatal UCD. In male hemizygous patients, disease severity primarily depends on the pathogenic sequence variant, while in heterozygous females, disease severity also depends on the X-chromosomal inactivation (XCI) pattern.
View Article and Find Full Text PDFCo-occurrence of , , or variants in uveal melanomas: A case series and review.
Am J Ophthalmol Case Rep
June 2025
Retina Consultants of Texas, Houston, TX, USA.
Purpose: The purpose of this study is to present a case series of patients with co-occurrence of either BRCA1 associated protein-1 (), eukaryotic translation initiation factor 1A, X-chromosomal (), or splicing factor 3B subunit 1 () in the detection and treatment of a uveal melanoma (UM) prior to the development of metastatic disease.
Observations: This is a retrospective case series of ten patients with UM demonstrating co-occurrence of either , , or variants treated at a single ocular oncology clinic by a senior ocular oncologist between 2020 and 2024. Charts were reviewed and data on medical history, demographics, tumor characteristics, genetic testing, follow up, as well as fundus photo and B-scan ocular ultrasound were collected.
De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.
Am J Med Genet A
September 2025
Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.
The dyskerin encoding gene DKC1 plays an important role in telomerase activity and telomere maintenance. Pathogenic variants in DKC1 cause an X-linked multiorgan disease called dyskeratosis congenita (DC), the most severe form of which is Hoyeraal-Hreidarsson syndrome (HHS). HHS due to DKC1 variants has so far only been reported in hemizygous males and is associated with severe neurological impairment and progressive bone marrow failure, often causing lethality in early childhood.
View Article and Find Full Text PDF