Detecting association of rare and common variants based on cross‐validation prediction error
Sign Up to like & getrecommendations! Published in 2017 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22034
Abstract: Despite the extensive discovery of disease‐associated common variants, much of the genetic contribution to complex traits remains unexplained. Rare variants may explain additional disease risk or trait variability. Although sequencing technology provides a supreme opportunity… read more here.
Keywords: based cross; cross validation; common variants; association rare ... See more keywords
Common Variants Near ZIC1 and ZIC4 in Autopsy‐Confirmed Multiple System Atrophy
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29164
Abstract: Multiple System Atrophy is a rare neurodegenerative disease with alpha‐synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, leading to dysautonomia, parkinsonism, and cerebellar ataxia. One prior genome‐wide association study in mainly… read more here.
Keywords: variants near; multiple system; system atrophy; common variants ... See more keywords
Common variants in CREB1 gene confer risk for bipolar disorder in Han Chinese.
Sign Up to like & getrecommendations! Published in 2021 at "Asian journal of psychiatry"
DOI: 10.1016/j.ajp.2021.102648
Abstract: Recently, we have identified involvement of the gene encoding cAMP responsive element-binding 1 (CREB1) in risk of BD in European ancestry. CREB1 has significant genetic diversity between Europeans and Chinese, thereby resulting in diverged CREB1… read more here.
Keywords: risk; common variants; han chinese; creb1 ... See more keywords
Common variants of human TERT and TERC genes and susceptibility to sporadic Alzheimers disease
Sign Up to like & getrecommendations! Published in 2017 at "Experimental Gerontology"
DOI: 10.1016/j.exger.2016.12.017
Abstract: &NA; Studies investigating telomere length in association with cognitive decline, dementia, and sporadic Alzheimer's disease (AD) have frequently found shorter telomeres to be associated with the development of AD and telomerase expression with pathological processes… read more here.
Keywords: telomerase; susceptibility; common variants; telomere length ... See more keywords
Inherited Rare and Common Variants in PTCH1 and PTCH2 Contributing to the Predisposition to Reproductive Cancers.
Sign Up to like & getrecommendations! Published in 2022 at "Gene"
DOI: 10.1016/j.gene.2021.146157
Abstract: PTCH1 and PTCH2 are associated with nevoid basal cell carcinoma syndrome and basal cell carcinoma. We determined the prevalence of their common and rare variants in 877 patients with various reproductive cancers and 296 healthy… read more here.
Keywords: reproductive cancers; ptch2; common variants; inherited rare ... See more keywords
Common Variants in OPG Confer Risk to Bone Mineral Density Variation and Osteoporosis Fractures
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-01579-6
Abstract: Although many common variants have been identified for bone mineral density (BMD) and osteoporosis fractures, all the identified risk variants could only explain a small portion of heritability of BMD and osteoporosis fractures. OPG belongs… read more here.
Keywords: bone mineral; common variants; bmd osteoporosis; mineral density ... See more keywords
Association of maternal and fetal LEPR common variants with maternal glycemic traits during pregnancy
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-03518-x
Abstract: Recent studies suggested that maternal and placental leptin receptor (LEPR) may be involved in maternal glucose metabolism in pregnancy. To identify maternal and fetal LEPR common variants influencing gestational glycemic traits, we performed association study… read more here.
Keywords: lepr; common variants; association; lepr common ... See more keywords
Novel Common Variants Associated with Obesity and Type 2 Diabetes Detected Using a cFDR Method
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-16722-6
Abstract: Genome-wide association studies (GWASs) have been performed extensively in diverse populations to identify single nucleotide polymorphisms (SNPs) associated with complex diseases or traits. However, to date, the SNPs identified fail to explain a large proportion… read more here.
Keywords: common variants; type diabetes; novel common; obesity ... See more keywords
Genome-wide association analysis identifies common variants influencing infant brain volumes
Sign Up to like & getrecommendations! Published in 2017 at "Translational Psychiatry"
DOI: 10.1038/tp.2017.159
Abstract: Genome-wide association studies (GWAS) of adolescents and adults are transforming our understanding of how genetic variants impact brain structure and psychiatric risk, but cannot address the reality that psychiatric disorders are unfolding developmental processes with… read more here.
Keywords: genome wide; common variants; brain; brain volumes ... See more keywords
Integrating DNA sequencing and transcriptomic data for association analyses of low-frequency variants and lipid traits.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz314
Abstract: Transcriptome-wide association studies (TWAS) integrate GWAS and transcriptomic data to showcase their improved statistical power of identifying gene-trait associations while, importantly, offering further biological insights. TWAS have thus far focused on common variants as available… read more here.
Keywords: common variants; association; transcriptomic data; frequency variants ... See more keywords
Polympact: exploring functional relations among common human genetic variants
Sign Up to like & getrecommendations! Published in 2022 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkac024
Abstract: Abstract In the last years, many studies were able to identify associations between common genetic variants and complex diseases. However, the mechanistic biological links explaining these associations are still mostly unknown. Common variants are usually… read more here.
Keywords: genetic variants; functional relations; relations among; polympact exploring ... See more keywords