Table 2. Replication Cohort Sequencing Results6.
(From Corbitt H et al. (2018) TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. PLoS Genetics, 2018 Oct 3;14(10):e1007692. doi: 10.1371/journal.pgen.1007692.)
| Chromosome | Position | ID | REF | ALT | MAF cases | MAF controls |
|---|---|---|---|---|---|---|
| 22 | 33253280 | rs9862 | T | C | 50.00% | 50.00% |
| 22 | 33253292 | rs11547635 | C | T | 14.29% | 6.40% |
| 22 | 33255244 | rs149161075 | C | T | 3.57% | 0.00% |
| Gene | P value | N variants in Test | ||||
| TIMP3 | 0.03734* | 3 | ||||
Variants identified in Danish cohort by Sanger sequencing of TIMP3 exons.
ID; rs identifier from dbSNP
MAF; minor allele frequency
P value; calculated by SKAT-O gene-based association test
*
reaches the significance threshold of <0.05
N; number