Correction: Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study

AbstractThe search for susceptibility genes underlying the heterogeneous bipolar disorder has been inconclusive, often with irreproducible results. There is a hope that narrowing the phenotypes will increase the power of genetic analysis. Early-onset bipolar disorder is thought to be a genetically homogeneous subtype with greater symptom severity. We conducted a genome-wide association study (GWAS) for this subtype in bipolar I (BPI) disorder. Study participants included 1779 patients of Han Chinese descent with BPI disorder recruited by the Taiwan Bipolar Consortium. We conducted phenotype assessment using the Chinese version of the Schedules for Clinical Assessment in Neuropsychiatry and prepared a life chart with graphic depiction of lifetime clinical course for each of the BPI patient recruited. The assessment of onset age was based on this life chart with early onset defined as ≤20 years of age. We performed GWAS in a discovery group of 516 early-onset and 790 non-early-onset BPI patients, followed by a replication study in an independent group of 153 early-onset and 320 non-early-onset BPI patients and a meta-analysis with these two groups. The SNP rs11127876, located in the intron of CADM2, showed association with early-onset BPI in the discovery cohort (P = 7.04 × 10−8) and in the test of replication (P = 0.0354). After meta-analysis, this SNP was demonstrated to be a new genetic locus in CADM2 gene associated with early-onset BPI disorder (P = 5.19 × 10−8).

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Genome-wide association study of patients with atrioventricular nodal reentry tachycardia

European Heart Journal ◽

10.1093/ehjci/ehaa946.3687 ◽

2020 ◽

Vol 41 (Supplement_2) ◽

Author(s):

L Andreasen ◽

G Ahlberg ◽

J Hartmann ◽

C Paludan-Mueller ◽

H.K Jensen ◽

...

Keyword(s):

Association Study ◽

Genome Wide Association Study ◽

Electrophysiological Study ◽

Genetic Locus ◽

Disease Onset ◽

Genome Wide Association ◽

Funding Source ◽

Genome Wide ◽

A Genome ◽

Reentry Tachycardia

Abstract Background Supraventricular tachycardias (SVTs) originate from the atria or the area close to the AV node. AV nodal reentry tachycardia (AVNRT) is one of the tachyarrhytmias comprising the group of SVTs. The typical patient is female, young at disease onset, with a structurally normal heart. At present we do not know the etiology of AVNRT. We therefore hypothesized that AVNRT might be caused by changes in the DNA. Methods DNA from purified blood was obtained from patients with AVNRT verified by an invasive electrophysiological study. Patients were recruited from five ablation centers in Denmark and individuals from the general population of Denmark (the BEFUS cohort) served as controls. DNA was subjected to chip genotyping, imputation and analyses in a genome-wide association study (GWAS) setup. Results A GWAS on 1,143 AVNRT patients and 3,004 controls revealed one locus close to the gene MYH6 to reach genome-wide significance for association with AVNRT (P=4.8x10–8). MYH6 encodes the α-isoform of the protein myosin heavy chain important for the contractile units of the heart, the sarcomeres. The gene is predominantly expressed in the atria. Additional subthreshold loci located close to other plausible arrhythmia genes were identified. Conclusion We report the first genetic locus to be associated with AVNRT close to the sarcomere gene MYH6. This is, to our knowledge, the first gene ever associated with AVNRT. Manhattan plot Funding Acknowledgement Type of funding source: Public hospital(s). Main funding source(s): Rigshospitalets Forskningspulje - 3 years PhD salary

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A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans

PLoS ONE ◽

10.1371/journal.pone.0145220 ◽

2015 ◽

Vol 10 (12) ◽

pp. e0145220 ◽

Cited By ~ 6

Author(s):

Seongwon Cha ◽

Ah Yeon Park ◽

Changsoo Kang

Keyword(s):

Association Study ◽

Genome Wide Association Study ◽

Genetic Locus ◽

Genome Wide Association ◽

Genome Wide ◽

A Genome

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A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients

Experimental and Therapeutic Medicine ◽

10.3892/etm.2020.8885 ◽

2020 ◽

Vol 20 (2) ◽

pp. 1716-1724

Author(s):

Roope Parviainen ◽

Sini Skarp ◽

Linda Korhonen ◽

Willy Serlo ◽

Minna Männikkö ◽

...

Keyword(s):

Association Study ◽

Genome Wide Association Study ◽

Genetic Locus ◽

Genome Wide Association ◽

Pediatric Fractures ◽

Genome Wide ◽

A Genome

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Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study

Scientific Reports ◽

10.1038/s41598-021-82003-y ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Kyung Jae Yoon ◽

Youbin Yi ◽

Jong Geol Do ◽

Hyung-Lae Kim ◽

Yong-Taek Lee ◽

...

Keyword(s):

Skeletal Muscle ◽

Association Study ◽

Muscle Mass ◽

Skeletal Muscle Mass ◽

Genome Wide Association Study ◽

Genetic Locus ◽

Genome Wide Association ◽

Skeletal Muscle Index ◽

Genome Wide ◽

A Genome

AbstractAlthough skeletal muscle plays a crucial role in metabolism and influences aging and chronic diseases, little is known about the genetic variations with skeletal muscle, especially in the Asian population. We performed a genome-wide association study in 2,046 participants drawn from a population-based study. Appendicular skeletal muscle mass was estimated based on appendicular lean soft tissue measured with a multi-frequency bioelectrical impedance analyzer and divided by height squared to derive the skeletal muscle index (SMI). After conducting quality control and imputing the genotypes, we analyzed 6,391,983 autosomal SNPs. A genome-wide significant association was found for the intronic variant rs138684936 in the NEB and RIF1 genes (β = 0.217, p = 6.83 × 10–9). These two genes are next to each other and are partially overlapped on chr2q23. We conducted extensive functional annotations to gain insight into the directional biological implication of significant genetic variants. A gene-based analysis identified the significant TNFSF9 gene and confirmed the suggestive association of the NEB gene. Pathway analyses showed the significant association of regulation of multicellular organism growth gene-set and the suggestive associations of pathways related to skeletal system development or skeleton morphogenesis with SMI. In conclusion, we identified a new genetic locus on chromosome 2 for SMI with genome-wide significance. These results enhance the biological understanding of skeletal muscle mass and provide specific leads for functional experiments.

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