scholarly journals Tracing the Origin of the RSPO2 Long-Hair Allele and Epistatic Interaction between FGF5 and RSPO2 in Sapsaree Dog

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 102
Author(s):  
Mingue Kang ◽  
Byeongyong Ahn ◽  
Seungyeon Youk ◽  
Yun-Mi Lee ◽  
Jong-Joo Kim ◽  
...  
Keyword(s):  
Epistatic Interaction ◽  
Genome Wide Association Study ◽  
Dominant Mode ◽  
Causative Mutation ◽  
Entire Body ◽  
Hair Length ◽  
Mendelian Segregation ◽  
Selection Signature ◽  
Genome Wide ◽  
History Of

Genetic analysis of the hair-length of Sapsaree dogs, a Korean native dog breed, showed a dominant mode of inheritance for long hair. Genome-Wide Association Study (GWAS) analysis and subsequent Mendelian segregation analysis revealed an association between OXR1, RSPO2, and PKHD1L1 on chromosome 13 (CFA13). We identified the previously reported 167 bp insertion in RSPO2 3’ untranslated region as a causative mutation for hair length variations. The analysis of 118 dog breeds and wolves revealed the selection signature on CFA13 in long-haired breeds. Haplotype analysis showed the association of only a few specific haplotypes to the breeds carrying the 167 bp insertion. The genetic diversity in the neighboring region linked to the insertion was higher in Sapsarees than in other Asian and European dog breeds carrying the same variation, suggesting an older history of its insertion in the Sapsaree genome than in that of the other breeds analyzed in this study. Our results show that the RSPO2 3’ UTR insertion is responsible for not only the furnishing phenotype but also determining the hair length of the entire body depending on the genetic background, suggesting an epistatic interaction between FGF5 and RSPO2 influencing the hair-length phenotype in dogs.

Genome‐wide association study identifies variants associated with hair length in Brangus cattle

2020 ◽  
Vol 51 (5) ◽  
pp. 811-814 ◽  
Author(s):  
K. M. Sarlo Davila ◽  
A. Howell ◽  
A. Nunez ◽  
A. Orelien ◽  
V. Roe ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Hair Length ◽  
Genome Wide

scholarly journals Evidence GDF15 Plays a Role in Familial and Recurrent Hyperemesis Gravidarum

2018 ◽  
Vol 78 (09) ◽  
pp. 866-870 ◽  
Author(s):  
Marlena Fejzo ◽  
Daria Arzy ◽  
Rayna Tian ◽  
Kimber MacGibbon ◽  
Patrick Mullin
Keyword(s):  
Genome Wide Association Study ◽  
Risk Allele ◽  
Hyperemesis Gravidarum ◽  
Nucleotide Polymorphisms ◽  
Sequencing Data ◽  
Severe Nausea ◽  
Single Nucleotide ◽  
Genome Wide ◽  
History Of ◽  
Study Support

Abstract Introduction Hyperemesis gravidarum (HG), a pregnancy complication characterized by severe nausea and vomiting in pregnancy, occurs in up to 2% of pregnancies. It is associated with both maternal and fetal morbidity. HG is highly heritable and recurs in approximately 80% of women. In a recent genome-wide association study, it was shown that placentation, appetite, and the cachexia gene GDF15 are linked to HG. The purpose of this study was to explore whether GDF15 alleles linked to overexpression of GDF15 protein segregate with the condition in families, and whether the GDF15 risk allele is associated with recurrence of HG. Methods We analyzed GDF15 overexpression alleles for segregation with disease using exome-sequencing data from 5 HG families. We compared the allele frequency of the GDF15 risk allele, rs16982345, in patients who had recurrence of HG with its frequency in those who did not have recurrence. Results Single nucleotide polymorphisms (SNPs) linked to higher levels of GDF15 segregated with disease in HG families. The GDF15 risk allele, rs16982345, was associated with an 8-fold higher risk of recurrence of HG. Conclusion The findings of this study support the hypothesis that GDF15 is involved in the pathogenesis of both familial and recurrent cases of HG. The findings may be applicable when counseling women with a familial history of HG or recurrent HG. The GDF15-GFRAL brainstem-activated pathway was recently identified and therapies to treat conditions of abnormal appetite are under development. Based on our findings, patients carrying GDF15 variants associated with GDF15 overexpression should be included in future studies of GDF15-GFRAL-based therapeutics. If safe, this approach could reduce maternal and fetal morbidity.

Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study

2016 ◽  
Vol 83 (3) ◽  
pp. 265-268 ◽  
Author(s):  
Adrianna Mostowska ◽  
Kamil K. Hozyasz ◽  
Piotr Wójcicki ◽  
Barbara Biedziak ◽  
Joanna Wesoły ◽  
...  
Keyword(s):  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Cleft Lip And Palate ◽  
Genome Wide Association ◽  
Polish Population ◽  
Orofacial Clefts ◽  
New Genes ◽  
Genome Wide ◽  
History Of

The project “Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study” is a case-control study in a group of unrelated subjects with non-syndromic cleft lip with or without cleft palate (NSCL/P) and healthy individuals with no family history of clefting or other congenital disorders. The overall goal of this grant proposal is to identify novel genetic factors, which can play a significant role in the pathogenesis of orofacial clefts in the Polish population. To accomplish the proposed aim, a two stage genome-wide association study will be performed. In the first stage, Illumina's HumanOmni Express BeadChips arrays will be used to genotype over 700,000 polymorphisms in NSCL/P patients and controls. In the second stage, SNPs showing the most compelling association with the risk of orofacial clefts will be tested in an independent sample set using standard genotyping methods. This research project is expected to be completed in July 2015.

scholarly journals Investigation of clinical characteristics and genome associations in the UK Lipoedema cohort

2021 ◽  
Author(s):  
Dionysios Grigoriadis ◽  
Ege Sackey ◽  
Katie Riches ◽  
Malou van Zanten ◽  
Glen Brice ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Genome Wide Association Study ◽  
Subcutaneous Fat ◽  
Lower Limbs ◽  
Genome Wide ◽  
A Genome ◽  
History Of ◽  
Different Populations ◽  
The Uk

Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly phenotyped cohort of 200 lipoedema patients was recruited from two UK specialist clinics. Objective clinical characteristics and measures of quality of life data were obtained. In an attempt to understand the genetic architecture of the disease better, genome-wide single nucleotide polymorphism (SNP) genotype data were obtained, and a genome wide association study (GWAS) performed on 130 of the recruits. The analysis revealed genetic loci suggestively associated with the lipoedema phenotype, with further support provided by an independent cohort taken from the 100,000 Genomes Project. Top SNPs included loci associated with lipoma formation, biosynthesis of hormones and lipid hydroxylation. Exactly how these SNPs relate to a lipoedema disease mechanism is not yet understood but the findings are consistent with existing fat and hormone hypotheses. This first GWAS of a UK lipoedema cohort has identified genetic regions of suggestive association with the disease. Further replication of these findings in different populations is warranted.

scholarly journals A brief overview of GWAS: discover genetic variations of diseases and phenotypes

2020 ◽  
Vol 185 ◽  
pp. 03014
Author(s):  
Zhiying Peng
Keyword(s):  
Large Scale ◽  
Genome Wide Association Study ◽  
Genetic Variations ◽  
Nucleotide Polymorphisms ◽  
Information Discovery ◽  
Genome Wide ◽  
Whole Genomes ◽  
Statistical Analysis Method ◽  
History Of ◽  
Application Fields

GWAS, or Genome-wide association study, is a statistical analysis method to reveal specific genetic variations, usually single nucleotide polymorphisms, with particular phenotypes or diseases. The power to scan whole genomes from large scale samples made the method an efficient tool for information discovery. In the last decades, the application of GWAS has flourished, which benefited our understanding related to diseases, breeding and many other topics. In this review, we overviewed the history of GWAS, as well as different approaches to perform the analysis under different circumstances during different stages. Meanwhile, we also showed how different GWAS approaches benefited diverse research and application fields, and the potential limitations of the method.

scholarly journals Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL

Blood ◽  
2011 ◽  
Vol 117 (6) ◽  
pp. 1911-1916 ◽  
Author(s):  
Susan L. Slager ◽  
Kari G. Rabe ◽  
Sara J. Achenbach ◽  
Celine M. Vachon ◽  
Lynn R. Goldin ◽  
...  
Keyword(s):  
Family History ◽  
Genome Wide Association Study ◽  
Statistical Significance ◽  
Familial Risk ◽  
Lymphocytic Leukemia ◽  
Genome Wide Association ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Genome Wide ◽  
History Of

Abstract Prior genome-wide association (GWA) studies have identified 10 susceptibility loci for risk of chronic lymphocytic leukemia (CLL). To identify additional loci, we performed a GWA study in 407 CLL cases (of which 102 had a family history of CLL) and 296 controls. Moreover, given the strong familial risk of CLL, we further subset our GWA analysis to the CLL cases with a family history of CLL to identify loci specific to these familial CLL cases. Our top hits from these analyses were evaluated in an additional sample of 252 familial CLL cases and 965 controls. Using all available data, we identified and confirmed an independent association of 4 single-nucleotide polymorphisms (SNPs) that met genome-wide statistical significance within the IRF8 (interferon regulatory factor 8) gene (combined P values ≤ 3.37 × 10−8), located in the previously identified 16q24.1 locus. Subsetting to familial CLL cases, we identified and confirmed a new locus on chromosome 6p21.3 (combined P value = 6.92 × 10−9). This novel region harbors the HLA-DQA1 and HLA-DRB5 genes. Finally, we evaluated the 10 previously reported SNPs in the overall sample and replicated 8 of them. Our findings support the hypothesis that familial CLL cases have additional genetic variants not seen in sporadic CLL. Additional loci among familial CLL cases may be identified through larger studies.

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