9%) contributed one or more relatives into the study; 94.6% of index cases, 86.6% relatives and 93.3% spouses were able to be examined. Participants ranged in age from 18 to 90 years, and all but three were Caucasian. Fig. 1 Flow diagram summarizing the recruitment process of HBM index cases and then their relatives and spouses. UK United Kingdom, DXA dual X-ray energy absorptiometry, HBM high bone mass. All participants with HBM were pooled (258 index cases, 94 relatives, 3 spouses) shown in octagonal boxes filled with grey dots. All participants unaffected by HBM
were pooled (142 unaffected relatives and 58 unaffected spouses) shown in hatched boxes. Two centres recruited prospectively on a case-by-case when qualifying DXA scans arose as part of routine clinical practice The majority of index cases were female PRN1371 chemical structure and spouses
male, whilst relatives showed a more even gender distribution (Table 3). Most female index cases and spouses were post-menopausal, whereas just over half of female relatives had passed the menopause because relatives were generally younger than index cases and spouses. Despite their similar GSK126 proportions of post-menopausal females, a greater proportion of index cases had taken oestrogen replacement compared to spouses. Index cases Seliciclib mouse were shorter than relatives and spouses, likely reflecting differences in gender distribution. BMI was higher amongst index cases compared to relatives and spouses. Table 3 Descriptive characteristics of recruited high bone mass index cases, their relatives and spouses/partners n (555) Index n (%; n = 261) Relative n (%; n = 236) Spouse n (%; n = 58) χ 2 p value Female 555 206 (78.9) 143 (60.6) 16 (27.6) <0.001 Post-menopausal 351 180 (89.6) Fluorometholone Acetate 74 (54.8) 12 (80.0) <0.001 Oestrogen replacementa 321 110
(60.1) 28 (22.2) 5 (41.7) <0.001 Caucasian 555 258 (98.9) 236 (100) 58 (100) 0.758 n (555) Index mean (95% CI; n = 261) Relative mean (95% CI; n = 236) Spouse mean (95% CI; n = 58) Unadjusted p value Anthropometric characteristics Age (years)b 555 64.5 (62.8, 66.2) 51.7 (49.9, 53.4) 63.3 (59.8, 66.7) <0.001 Height (cm)c 555 166.3 (165.1, 167.4) 169.5 (168.2, 170.8) 172.5 (170.2, 174.8) <0.001 Weight (kg)c 555 85.5 (83.3, 87.6) 82.6 (80.0, 85.2) 85.6 (81.4, 89.8) 0.118 BMI (kg/m2)c 555 31.0 (30.2, 31.7) 28.8 (27.9, 29.7) 29.0 (27.7, 30.4) <0.001 DXA characteristics Sum L1 and total hip Z-scoresd 555 7.58 (7.30, 7.87) 2.62 (2.32, 2.93) 1.40 (0.81, 2.00) <0.001 Total hip Z-scored 534 3.26 (3.10, 3.41) 1.25 (1.07, 1.42) 0.66 (0.36, 0.96) <0.001 L1 Z-score 547 4.29 (4.10, 4.48) 1.38 (1.19, 1.58) 0.81 (0.42, 1.20) <0.001 L1 area (cm2) 542 14.09 (13.81, 14.36) 13.90 (13.59, 14.22) 14.77 (14.23, 15.30) 0.013 L1 area (cm2)e 542 16.18 (15.33, 17.04)e 15.46 (14.72, 16.20)e 15.26 (14.37, 16.16)e <0.