Table 2.
Top 10 Results from Meta-analysis Across All Cohorts of Nonsynonymous, Stop, and Splice Variant Associations with Moderate to Severe COPD
Chr | SNP | Gene | Effect Allele | Effect Allele Overall Frequency | β Value | SE | Test for Heterogeneity |
Direction*† | P Value | |
---|---|---|---|---|---|---|---|---|---|---|
I2 Statistic | Q Statistic | |||||||||
15 | rs16969968 | CHRNA5 | A | 0.36 | 0.27 | 0.035 | 68 | 13 | +++++ | 1.7 × 10−14 |
16 | rs181206 | IL27 | A | 0.69 | −0.16 | 0.036 | 1.2 | 4.0 | −−−−− | 4.7 × 10−6 |
11 | rs8177374 | TIRAP | T | 0.16 | 0.19 | 0.045 | 31 | 5.8 | +−−++ | 2.6 × 10−5 |
6 | rs2070600 | AGER | T | 0.042 | −0.33 | 0.079 | 28 | 5.6 | −−++− | 2.7 × 10−5 |
11 | rs679620 | MMP3 | T | 0.48 | 0.12 | 0.030 | 0 | 2.5 | +++++ | 3.8 × 10−5 |
6 | rs10499052 | AKD1 | A | 0.27 | 0.15 | 0.036 | 0 | 1.8 | +++++ | 4.0 × 10−5 |
6 | rs59056467 | MICAL1 | T | 0.32 | 0.13 | 0.033 | 0 | 1.5 | +−+++ | 4.7 × 10−5 |
10 | rs41290259 | FAM208B | A | 0.98 | 0.58 | 0.15 | 0 | 1.2 | +??++ | 8.8 × 10−5 |
16 | rs61746451 | CRAMP1L | T | 0.011 | −0.57 | 0.14 | 0 | 2.4 | −?+−− | 8.9 × 10−5 |
14 | rs28929474 | SERPINA1 | T | 0.021 | 0.45 | 0.12 | 50 | 4.0 | +?+?+ | 1.4 × 10−4 |
Definition of abbreviation: Chr = chromosome; COPD = chronic obstructive pulmonary disease; SNP = single-nucleotide polymorphism.
Only variants observed in at least three of the five analysis cohorts are reported.
The direction of effect is reported for each analysis cohort. The symbols from left to right represent (1) Boston Early-Onset COPD study and International COPD Genetics Network study, (2) Transcontinental COPD Genetics Study (TCGS) Korea cohort, (3) TCGS Poland cohort, (4) Genetic Epidemiology of COPD Study (COPDGene) African American cohort, and (5) COPDGene non-Hispanic white cohort.
The symbol for each cohort is “+” for effect allele association with increased COPD susceptibility, “−” for association with decreased COPD susceptibility, and “?” if the variant was not present at a sufficient allele count in the analysis cohort.