The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Single nucleotide polymorphism rs1012176 showed the strongest association with any anxiety disorder (odds ratio: 0.8128, SE = 0.063, P = 0.00099), but this effect was not significant after correction for multiple testing.
For the CTNND2 gene, neither rs6885224 nor rs12716080 was significantly associated with myopia {rs6885224: [OR and 95%CI: 1.051 (0.795-1.391), p=0.725], rs12716080: [OR and 95%CI: 1.173 (0.990-1.390), p=0.065]}.
One SNP, rs6885224, in CTNND2 showed significant differences in genotype and allele frequencies between high myopia and controls (genotype P = 2.17E×10(-5), allele P = 5.29E×10(-6), odds ratio [OR] = 0.69, 95% confidence interval [CI] = 0.591-0.812), as well as between moderate myopia and controls (genotype P = 0.009, allele P = 0.005, OR = 0.765, 95% CI = 0.633-0.924). rs12716080 showed no statistical difference between myopias and controls.
One SNP, rs6885224, in CTNND2 showed significant differences in genotype and allele frequencies between high myopia and controls (genotype P = 2.17E×10(-5), allele P = 5.29E×10(-6), odds ratio [OR] = 0.69, 95% confidence interval [CI] = 0.591-0.812), as well as between moderate myopia and controls (genotype P = 0.009, allele P = 0.005, OR = 0.765, 95% CI = 0.633-0.924). rs12716080 showed no statistical difference between myopias and controls.
A genome-wide association study using 187,657 single nucleotide polymorphisms (SNPs) for the bivariate outcome of CC and THV identified genome-wide significant association with CTNND2 SNPs rs17183619, rs13155993 and rs13170756 (P<2.6 × 10(-7)).
A genome-wide association study using 187,657 single nucleotide polymorphisms (SNPs) for the bivariate outcome of CC and THV identified genome-wide significant association with CTNND2 SNPs rs17183619, rs13155993 and rs13170756 (P<2.6 × 10(-7)).
Allele and genotype frequency analyses found that the distribution of variants of the SNP rs1479617 located in the CTNND2 gene significantly differed between the pathological myopia and control groups.
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.