Table 1.
Description of centromere-adjacent single nucleotide polymorphisms (SNPs) identified by published Genome-Wide Association Studies (GWAS), collected in the NHGRI-EBI GWAS Catalog published jointly by the National Human Genome Research Institute (NHGRI) and the European Bioinformatics Institute (EMBL-EBI) [80]. SNPs are included if found within a two-megabase window of an alpha satellite reference model (GRCh38) and do not overlap with annotated genes or segmental duplication).
| Trait | SNPs | CEN adjacent (2Mb) Regions | Citation |
|---|---|---|---|
| Cancer | rs930395, rs2241024, rs142427110, rs35951924, rs199501877, rs11146838, rs6490525, rs2050203, rs7278690, rs35505947 | 4p12; 5p12; 5q11; 10p11; 13q12; 18p11; 19q11; 20p11; 21q11 | [86,87,88,89] |
| Cardiovascular disease | rs10132760, rs12186641, rs9367716, rs71566846, rs223290, rs144961578, rs3813127, rs1657346, rs1254531, rs10793514 | 5q11.2; 6p11.2; 6q11.1; 10q11.21; 14q11.2; 18q11.2 | [90,91,92] |
| Neurodegenerative diseases | rs11826064, rs13168838, rs62365447, rs140996952, rs1480597, rs10783624, rs7989524, rs6822736, rs13110633, rs2424635 | 4p11; 4q12; 5p12; 5q11.1; 6q11.1; 10q11; 11p11; 12q12; 13q12; 20p11 | [93,94,95,96,97,98,99,100] |
| Scoliosis/Bone Density (Spine) | rs8111296, rs11652527, rs1436931, rs6061081, rs17599071, rs10136383, rs9288898, rs10772040, rs4562194, rs810967, rs6050182, rs6511621, rs11229654, rs6551418, rs1006899 | 3p11.1; 3q11.2; 6q12; 7q11.21; 10q11.21; 11q11; 12p11.21; 14q11.2; 17q11.2; 19p12; 20p11.21; 21q11.2 | [101,102] |
| Digestive system disease | rs4243971, rs2342002, rs4800353, rs6058869, rs6087990 | 6q11.1; 18q11.2; 20q11.21 | [103,104] |