Replication of endometriosis-associated single-nucleotide polymorphisms from genome-wide association studies in a Caucasian population

2013 ◽  
Vol 28 (3) ◽  
pp. 835-839 ◽  
Author(s):  
J. Sundqvist ◽  
H. Xu ◽  
A. Vodolazkaia ◽  
A. Fassbender ◽  
C. Kyama ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Association Studies ◽  
Caucasian Population ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide

Detecting associated single-nucleotide polymorphisms on the X chromosome in case control genome-wide association studies

2014 ◽  
Vol 26 (2) ◽  
pp. 567-582 ◽  
Author(s):  
Zhongxue Chen ◽  
Hon Keung Tony Ng ◽  
Jing Li ◽  
Qingzhong Liu ◽  
Hanwen Huang
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
X Chromosome ◽  
Association Studies ◽  
Statistical Tests ◽  
Real Data ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide

In the past decade, hundreds of genome-wide association studies have been conducted to detect the significant single-nucleotide polymorphisms that are associated with certain diseases. However, most of the data from the X chromosome were not analyzed and only a few significant associated single-nucleotide polymorphisms from the X chromosome have been identified from genome-wide association studies. This is mainly due to the lack of powerful statistical tests. In this paper, we propose a novel statistical approach that combines the information of single-nucleotide polymorphisms on the X chromosome from both males and females in an efficient way. The proposed approach avoids the need of making strong assumptions about the underlying genetic models. Our proposed statistical test is a robust method that only makes the assumption that the risk allele is the same for both females and males if the single-nucleotide polymorphism is associated with the disease for both genders. Through simulation study and a real data application, we show that the proposed procedure is robust and have excellent performance compared to existing methods. We expect that many more associated single-nucleotide polymorphisms on the X chromosome will be identified if the proposed approach is applied to current available genome-wide association studies data.

Where in the Genome Are Significant Single Nucleotide Polymorphisms from Genome-Wide Association Studies Located?

2011 ◽  
Vol 15 (7-8) ◽  
pp. 507-512 ◽  
Author(s):  
Torsten Günther ◽  
Armin O. Schmitt ◽  
Ralf H. Bortfeldt ◽  
Anke Hinney ◽  
Johannes Hebebrand ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide

Replication study of previous migraine genome-wide association study findings in a Spanish sample of migraine with aura

Cephalalgia ◽  
2014 ◽  
Vol 35 (9) ◽  
pp. 776-782 ◽  
Author(s):  
Cèlia Sintas ◽  
Jèssica Fernández-Morales ◽  
Marta Vila-Pueyo ◽  
Bernat Narberhaus ◽  
Concepció Arenas ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Association Study ◽  
Migraine With Aura ◽  
Genome Wide Association Study ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide

Background Migraine is a common disabling condition that affects approximately 15% of the population. Several genome-wide association studies have attempted to identify susceptibility variants involved in migraine, reporting several candidate loci for the disorder. Methods In order to replicate findings from previous genome-wide association studies, a case–control association study was performed. Twelve single nucleotide polymorphisms were genotyped in a Spanish sample of 512 migraine with aura patients and 535 migraine-free controls. Results Nominal associations were found for single nucleotide polymorphisms rs2651899 (within the PRDM16 gene), rs10166942 (near TRPM8), rs12134493 (close to TSPAN2) and rs10504861 (near MMP16) in our migraine with aura sample. Conclusions Our study provides suggestive replication, in a Spanish migraine with aura sample, of four genome-wide association study findings previously reported in common migraine. However, larger sample sets should be explored to confirm our results.

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