scholarly journals Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men

2018 ◽  
Vol 55 (6) ◽  
pp. 415-421 ◽  
Author(s):  
Youichi Sato ◽  
Atsushi Tajima ◽  
Takehiro Sato ◽  
Shiari Nozawa ◽  
Miki Yoshiike ◽  
...  
Keyword(s):  
Association Study ◽  
Sperm Motility ◽  
Genetic Factors ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Human Populations ◽  
Motile Sperm ◽  
Japanese Men ◽  
Genome Wide ◽  
A Genome

BackgroundThe decrease in sperm motility has a potent influence on fertilisation. Sperm motility, represented as the percentage of motile sperm in ejaculated sperms, is influenced by lifestyle habits or environmental factors and by inherited factors. However, genetic factors contributing to individual differences in sperm motility remain unclear. To identify genetic factors that influence human sperm motility, we performed a genome-wide association study (GWAS) of sperm motility.MethodsA two-stage GWAS was conducted using 811 Japanese men in a discovery stage, followed by a replication study using an additional 779 Japanese men.ResultsIn the two-staged GWAS, a single nucleotide polymorphism rs3791686 in the intron of gene for erb-b2 receptor tyrosine kinase 4 (ERBB4) on chromosome 2q34 was identified as a novel locus for sperm motility, as evident from the discovery and replication results using meta-analysis (β=−4.01, combined P=5.40×10−9).ConclusionsTogether with the previous evidence that Sertoli cell-specific Erbb4-knockout mice display an impaired ability to produce motile sperm, this finding provides the first genetic evidence for further investigation of the genome-wide significant association at the ERBB4 locus in larger studies across diverse human populations.

scholarly journals A genome-wide association study reveals a novel candidate gene for sperm motility in pigs

2014 ◽  
Vol 151 (3-4) ◽  
pp. 201-207 ◽  
Author(s):  
D.B. Diniz ◽  
M.S. Lopes ◽  
M.L.W.J. Broekhuijse ◽  
P.S. Lopes ◽  
B. Harlizius ◽  
...  
Keyword(s):  
Association Study ◽  
Candidate Gene ◽  
Sperm Motility ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome

scholarly journals A genome-wide association study of quantitative computed tomographic emphysema in Korean populations

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sooim Sin ◽  
Hye-Mi Choi ◽  
Jiwon Lim ◽  
Jeeyoung Kim ◽  
So Hyeon Bak ◽  
...  
Keyword(s):  
Gene Expression ◽  
Association Study ◽  
Genetic Factors ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Candidate Snps ◽  
Copd Patients ◽  
Genome Wide ◽  
A Genome ◽  
Novel Snp

AbstractEmphysema is an important feature of chronic obstructive pulmonary disease (COPD). Genetic factors likely affect emphysema pathogenesis, but this question has predominantly been studied in those of European ancestry. In this study, we sought to determine genetic components of emphysema severity and characterize the potential function of the associated loci in Korean population. We performed a genome-wide association study (GWAS) on quantitative emphysema in subjects with or without COPD from two Korean COPD cohorts. We investigated the functional consequences of the loci using epigenetic annotation and gene expression data. We also compared our GWAS results with an epigenome-wide association study and previous differential gene expression analysis. In total, 548 subjects (476 [86.9%] male) including 514 COPD patients were evaluated. We identified one genome-wide significant SNP (P < 5.0 × 10–8), rs117084279, near PIBF1. We identified an additional 57 SNPs (P < 5.0 × 10–6) associated with emphysema in all subjects, and 106 SNPs (P < 5.0 × 10–6) in COPD patients. Of these candidate SNPs, 2 (rs12459249, rs11667314) near CYP2A6 were expression quantitative trait loci in lung tissue and a SNP (rs11214944) near NNMT was an expression quantitative trait locus in whole blood. Of note, rs11214944 was in linkage disequilibrium with variants in enhancer histone marks in lung tissue. Several genes near additional SNPs were identified in our previous EWAS study with nominal level of significance. We identified a novel SNP associated with quantitative emphysema on CT. Including the novel SNP, several candidate SNPs in our study may provide clues to the genetic etiology of emphysema in Asian populations. Further research and validation of the loci will help determine the genetic factors for the development of emphysema.

scholarly journals Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

2019 ◽  
Author(s):  
Fulya Akçimen ◽  
Sandra Martins ◽  
Calwing Liao ◽  
Cynthia V. Bourassa ◽  
Hélène Catoire ◽  
...  
Keyword(s):  
Association Study ◽  
Genetic Factors ◽  
Genome Wide Association Study ◽  
Age At Onset ◽  
Cag Repeat ◽  
Genome Wide Association ◽  
Modifying Factors ◽  
Genome Wide ◽  
A Genome ◽  
Machado Joseph Disease

AbstractMachado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the disease age at onset (AO) variability of MJD, which is confirmed in this study. Using a total of 786 MJD patients from five different geographical origins, a genome-wide association study (GWAS) was conducted to identify additional AO modifying factors that could explain some of the residual AO variability. We identified nine suggestively associated loci (P < 1 × 10−5). These loci were enriched for genes involved in vesicle transport, olfactory signaling, and synaptic pathways. Furthermore, associations between AO and the TRIM29 and RAG genes suggests that DNA repair mechanisms might be implicated in MJD pathogenesis. Our study demonstrates the existence of several additional genetic factors, along with CAG expansion, that may lead to a better understanding of the genotype-phenotype correlation in MJD.

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