Table 2.
Summary of Association Results of Jagged 1 Gene rs2273061 in the Discovery Cohort and First- and Second-Step Replication Cohorts
|
BMD (Effect Estimated in SD) |
Fracturea |
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Lumbar Spine |
Femoral Neck |
All |
Spine |
Hip |
|||||||||
| A1 | A2 | MAF | p | β | p | β | p | OR | p | OR | p | OR | |
| Discovery Stage | |||||||||||||
| Hong Kong Southern Chinese discovery cohort (n = 800) | Gb | A | 0.308 | 4.73E-05 | 0.320 | 5.36E-04 | 0.270 | NA | NA | NA | NA | NA | NA |
| First-Step Replication | |||||||||||||
| Hong Kong Southern Chinese first-step replication cohort (n = 720) | Gb | A | 0.319 | 9.06E-05 | 0.350 | 5.59E-03 | 0.180 | NA | NA | NA | NA | NA | NA |
| Second-Step Replicationc | |||||||||||||
| Hong Kong Osteoporosis Study prospective cohort (n = 1,881) | Gb | A | 0.307 | 2.50E-03 | 0.120 | 4.50E-03 | 0.090 | 9.00E-03 | 0.730 | 0.0630 | 0.780 | 1.60E-02 | 0.480 |
| Northern Chinese population (n = 1,584) | Gb | A | 0.346 | 0.1985 | 0.043 | 0.1180 | 0.043 | NA | NA | NA | NA | NA | NA |
| Framingham Study cohort (n = 3,569) | A | Gb | 0.405 | 7.02E-03 | 0.063 | 0.1050 | 0.032 | NA | NA | NA | NA | NA | NA |
| deCODE Genetics Study (n = 7,610) | A | Gb | 0.397 | 7.50E-03 | 0.051 | 4.30E-02 | 0.036 | NA | NA | NA | NA | NA | NA |
| TwinsUK Study cohort (n = 2,734) | A | Gb | 0.407 | 4.50E-02 | 0.052 | 0.0742 | 0.045 | ||||||
| Meta-analysis | |||||||||||||
| Total second-replication Chinese (n = 3,465) | 1.24E-02 | 0.088 | 1.49E-02 | 0.067 | NA | NA | NA | NA | NA | NA | |||
| Total second-replication subjects of European descent (n = 13,913) | 2.63E-04 | 0.055 | 2.14E-02 | 0.037 | NA | NA | NA | NA | NA | NA | |||
| Total subjects (n = 18,898) | 5.27E-08 | 0.072 | 4.15E-05 | 0.054 | NA | NA | NA | NA | NA | NA | |||
Abbreviations: A1, minor allele; A2, major allele; MAF, minor allele frequency; β, regression coefficient;
OR, odds ratio; NA, not available.
a
The results were adjusted for age and follow-up duration.
b
The reference allele. p values are two-sided.
c
p values of BMD listed in the second-step replication cohorts were one-sided p value.