hum0014 Release Note

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hum0014.v8

A total of 162,255 patients, who were registered Bio Bank Japan from 2003 - 2007 were genotyped by using of Illumina HumanOminiExpress-12 BeadChip, HumanExome, or OmniExpressExome BeadChip. A genotype imputation was carried out using Minimac algorithm with the 1000 genomes Phase I v3 release as a reference. Then, genome-wide association studies (about 6,000,000 imputed SNVs) were performed (mach2qtl program).

hum0014.v7

A total of 3980 patients with primary open-angle glaucoma and 18,815 controls were genotyped by using of Illumina HumanOminiExpress BeadChip, HumanExome, or OmniExpressExome BeadChip. A genotype imputation was carried out using Minimac algorithm with the 1000 genomes Phase I v3 release as a reference. Then, a genome-wide association study (about 6,000,000 imputed SNVs) was performed (mach2dat program).

hum0014.v6

A total of 158,284 patients, who were registered Bio Bank Japan from 2003 - 2007 were genotyped by using of Illumina HumanOminiExpress-12 BeadChip, HumanExome, or OmniExpressExome BeadChip. A genotype imputation was carried out using Minimac algorithm with the 1000 genomes Phase I v3 release as a reference. Then, a genome-wide association study (about 6,000,000 imputed SNVs) was performed (mach2qtl program).

hum0014.v5

A total of 8180 patients with atrial fibrillation, who were registered Bio Bank Japan from 2003 - 2007, and 28,612 controls were genotyped by using of Illumina HumanOminiExpress-12 BeadChip, HumanExome, or OmniExpressExome BeadChip (900,000 SNVs). A genotype imputation was carried out using Minimac algorithm with the 1000 genomes Phase I v3 release as a reference. Then, a genome-wide association study (5,000,000 imputed SNVs) was performed (mach2dat program).

hum0014.v4

A total of 1472 patients with atopic dermatitis and 7966 controls were genotyped by using of Illumina HumanOminiExpress-12 BeadChip (606,164 SNVs). A genotype imputation was carried out using Minimac algorithm with the 1000 genomes Phase I v3 release as a reference. Then, a genome-wide association study (7,700,000 imputed SNVs) was performed using logic regression tests with imputed SNP dosage data (mach2dat program).　

hum0014.v3

GWASs for T2DM were performed using 552,915 SNPs (9817 T2DM patients vs 6763 controls) and 479,088 SNPs (5646 T2DM patients vs 19,420 controls). Allele frequencies of T2DM patients and controls were compared.

Genotypes were determined by using of OmniExpressExome Beadchip or Human610-Quad BeadChip [Illumina], respectively.

hum0014.v2

Genotype frequencies of 934 healthy individuals, about 190 patients from each of 35 diseases, 182 esophageal cancer patients, and 92 ALS patients.

35 diseases:

Cancer (Lung cancer, Breast cancer, Gastric cancer, Colorectal cancer, Prostate cancer)

Cardiovascular diseases (Heart failure, Myocardial infarction, Unstable angina, Stable angina, Cardiac arrhythmias, Arteriosclerosis obliterans)

Cerebrovascular disorders (Brain infarction, Intracranial aneurysm)

Respiratory tract diseases (Interstitial pneumonitis & pulmonary fibrosis, Pulmonary emphysema, Bronchial asthma)

Chronic liver diseases (Chronic hepatitis C, Liver cirrhosis)

Eye diseases (Cataract, Glaucoma)

Others (Epilepsy, Periodontal disease, Urolithiasis, Nephrotic syndrome, Uterine myoma, Endometriosis, Osteoporosis, Rheumatoid arthritis, Amyotrophic lateral sclerosis, Hay fever, Atopic dermatitis, Drug eruptions , Hyperlipidemias, Diabetes mellitus, Basedow disease)

Illumina [Human610-Quad BeadChip, HumanHap550v3 Genotyping BeadChip], Perlegen Sciences [high-density oligonucleotide arrays], or Hologic Japan [Invader] were used for the genotyping.

hum0014.v1

A Genome-Wide Association Study (GWAS) for MI was performed using 455,781 SNPs (Illumina Human610-Quad BeadChip and HumanHap550v3 Genotyping BeadChip). Allele frequencies of 1666 MI patients and 3198 controls were compared.

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