Complex segregation analyses of bone mineral density in Chinese

Abstract

SummaryChina has the largest population in the world; approximately 7% of the total population suffers from primary osteoporosis. Osteoporosis is mainly characterized by low bone mineral density (BMD). In the present study, familial correlation and segregation analyses for spine and hip BMDs have been undertaken for the first time in a Chinese sample composed of 401 nuclear families with a total of 1,260 individuals. The results indicate a major gene of additive inheritance for hip BMD, whereas there is no evidence of a major gene influencing spine BMD. Significant familial residual effects are found for both traits, and heritability estimates (± SE) for spine and hip BMDs are 0.807(0.099) and 0.897(0.101), respectively. Sex and age differences in genotype-specific average BMD are also observed. This study provides the first evidence quantifying the high degree of genetic determination of BMD variation in the Chinese.

Genetic influence on bone mineral density in Korean twins and families: the healthy twin study

“…This finding is highly consistent with the findings from Chinese family studies [16][17][18] and those from the studies of various Western populations, such as Americans [4,12,14], British [8,15], Icelandics [10], Finns [7,9], Australians [5,6], and Mexican Americans [13]. This consistently high heritability of BMD found all over the various ethnic populations provides strong evidence for the presence of specific genes responsible for BMD and the development of osteoporosis.…”

“…In our study, heritability of leg BMD was the highest and heritability of arm BMD was the lowest in the whole group of males and females combined. Some studies have reported that lumbar spine BMD had the highest heritability [5,9,17,27], while others have reported that total hip [10,11,14,16,18], femoral neck [8,15], or head [4,7] BMD had the highest heritability. Moreover, the exact mechanism for the different genetic effect on BMD by specific sites is still uncertain.…”

“…Although few Asian studies exist including Chinese families [16][17][18], those studies might have limitation of a family only study in which genetic effects are not separated from common environmental effects.…”

“…Although BMD is known to be associated with several biological and behavioral factors, such as body weight, height, physical activity, smoking, and calcium intake [3], genetic factors have been suggested to have a significant influence on BMD [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. Studies involving twins [4][5][6][7][8][9] or families [10][11][12][13][14][15] to evaluate the heritability of BMD have shown that approximately 60-90% of BMD variance is determined by genetic factors in Western populations.…”

Effect of Environmental Factors and Gender on the Heritability of Bone Mineral Density and Bone Size

“…Liu et al (2004a) reported h 2 estimates of 0.62 for spine bone size and 0.59 for total hip bone size. Other studies reported h 2 estimates of 0.60-0.63 for spine area and 0.45-0.69 for total hip area (Jian et al 2004), and 0.81 for spine BMD and 0.90 for total hip BMD (Liu et al 2004b). The h 2 estimates for trochanter and femoral neck BMD and bone size have not been reported previously.…”