Table 6.
Top 10 Cytobands in Which Qatari Genetic Subpopulations’ CNVRs were Observed at a Significantly Higher Frequency than in 1000 Genomes Phase I CNV Dataa
Qatari genetic subpopulation | Cytoband | 1000Genomes phase I count | Q1, Q2 or Q3 count | p value | Diseases associated with cytoband |
---|---|---|---|---|---|
Q1 | 1q21.1 | 10 | 55 | 1.60 × 10−16 | Schizophrenia; congenital heart disease |
9q21.11 | 5 | 42 | 1.06 × 10−14 | - | |
5q13.2 | 6 | 35 | 3.43 × 10−11 | Neurologic disorders; alcohol dependence | |
9p11.2 | 17 | 49 | 8.97 × 10−11 | - | |
16p11.2 | 23 | 50 | 7.10 × 10−9 | Autism; schizophrenia; obesity | |
10q11.22 | 7 | 29 | 2.45 × 10−8 | - | |
9p12 | 14 | 38 | 2.66 × 10−8 | - | |
8p11.1 | 2 | 20 | 7.14 × 10−8 | - | |
9p13.1 | 8 | 29 | 7.55 × 10−8 | - | |
7q11.1 | 3 | 20 | 3.66 × 10−7 | - | |
Q2 | 1q21.1 | 10 | 59 | 9.67 × 10−22 | Schizophrenia; congenital heart disease |
5q13.2 | 6 | 36 | 8.21 × 10−14 | Neurologic disorders; alcohol dependence | |
9q21.11 | 5 | 33 | 4.22 × 10−13 | - | |
16p11.2 | 23 | 51 | 8.07 × 10−12 | Autism; schizophrenia; obesity | |
9p11.2 | 17 | 44 | 1.17 × 10−11 | - | |
7q11.1 | 3 | 25 | 8.91 × 10−11 | - | |
8p11.1 | 2 | 20 | 3.77 × 10−9 | - | |
7q11.21 | 35 | 53 | 5.43 × 10−9 | - | |
10q11.22 | 7 | 26 | 8.97 × 10−9 | - | |
9p12 | 14 | 30 | 1.76 × 10−7 | - | |
Q3 | 1q21.1 | 10 | 60 | 2.04 × 10−20 | Schizophrenia; congenital heart disease |
9q21.11 | 5 | 37 | 7.23 × 10−14 | - | |
9p11.2 | 17 | 48 | 6.27 × 10−12 | - | |
16p11.2 | 23 | 54 | 1.26 × 10−11 | Autism; schizophrenia; obesity | |
5q13.2 | 6 | 33 | 1.83 × 10−11 | Neurologic disorders; alcohol dependence | |
10q11.22 | 7 | 29 | 3.10 × 10−9 | - | |
7q11.1 | 3 | 21 | 3.00 × 10−8 | - | |
22q11.1 | 7 | 25 | 1.20 × 10−7 | - | |
8p11.1 | 2 | 18 | 1.24 × 10−7 | - | |
1p36.33 | 12 | 30 | 2.87 × 10−7 | Disorders of sexual development; obesity |
aAll CNVRs detected in Q1, Q2 and Q3 Qataris as well as all CNVRs in the Database of Genomic Variantsfrom the 1000 Genomes Project Phase I [25] data were annotated for which chromosome and cytoband they affected. Fisher’s exact test was used to evaluate enrichment or depletion of CNVRs from a specific cytoband, corrected p value for significance (<6.7 × 10−6)