Table 2. Association Results for BMP2 SNP Haplotypes and Ser37Ala Missense Variant.
Shown are the BMP2 Ser37Ala missense variant, hapB and hapC, number of affected (#aff) and controls (#ctrl) in the analysis, RR (r), frequency (%) of haplotypes (allelic) in affected and controls, and p values. The osteoporosis (OP) phenotypes in the analyses are given to the left (see Materials and Methods for details). The BMD values are corrected for sex, age, and weight and represent the lowest 10th percentile in all cases. The osteoporosis severe phenotype is the severe definition used in the linkage run. Premenopausal and postmenopausal phenotypes consist of low BMD values at the hip or the spine. Only a subset of patients and controls were typed for the Ser37Ala variant in the Icelandic cohort. For Ser37Ala, the p values based on the Fisher's exact test, but not adjusting for relatedness among the affected, are presented (p value) together with p values that have made that adjustment (P adja). The p values for the haplotypes are based on likelihood ratio tests. p Values for the Icelandic data are two-sided, but without adjustment for multiple comparisons (p value) or adjusted for the multiple haplotypes tested using a randomization procedure as described in the text (P adjb). The p values for the Danish replication study are one-sided. NS, not significant