Differentiation of Caucasians and Chinese at Bone Mass Candidate Genes: Implication for Ethnic Difference of Bone Mass

Abstract

SummaryBone mineral density (BMD) is an important risk factor for osteoporosis and has strong genetic determination. While average BMD differs among major ethnic groups, several important candidate genes have been shown to underlie BMD variation within populations of the same ethnicity. To investigate whether important candidate genes may contribute to ethnic differences in BMD, we studied the degree of genetic differentiation among several important candidate genes between two major ethnic groups: Caucasians and Chinese. The genetic variability of these two populations (1131 randomly selected individuals) was studied at six restriction sites exhibiting polymorphisms of five important candidate genes for BMD: the BsaHI polymorphism of the calcium-sensing receptor (CASR) gene, the SacI polymorphism of the α 2 HS-glycoprotein (AHSG) gene, the PvuII and XbaI polymorphisms of the estrogen receptor α (ESR1) gene, the ApaI polymorphism of the vitamin D receptor (VDR) gene, and the BstBI polymorphism of the parathyroid hormone (PTH) gene. The two ethnic groups showed significant allelic and genotypic differentiation of all the polymorphisms studied. The mean F ST was 0.103, which significantly differed from zero (P < 0.01). The Chinese population had lower mean heterozygosity (0.331) than the Caucasian one (0.444); the CASR-BsaHI and PTH-BstBI polymorphisms contributed most significantly to this difference. Analysis of the intra-and inter-population variability suggests that various types of natural selection may affect the observed patterns of variation at some loci. If some of the candidate genes we studied indeed underlie variation in BMD, their population differentiation revealed here between ethnic groups may contribute to understanding ethnic difference in BMD.

AHSG gene variant is associated with leanness among Swedish men

“…However, the rs4917 allele frequency is similar between the studies. Likewise, our 238Ser allele frequency is similar to that among American Caucasians (Dvornyk et al 2003) but is slightly higher than that in German Caucasians (Osawa et al 2001). The high LD between rs2593819 and rs4917 and rs4918 is in agreement with Osawa et al (2001).…”

Ectopic pregnancy after in vitro fertilization: differences between fresh and frozen-thawed cycles

“…Those cycles with missing data were nevertheless kept in the analysis and had similar odds of EP as white women, who represent the majority of women in the sample. The racial and ethnic differentials observed in our study may be due to the presence of nonobserved confounders (including previous EP or sexually transmitted infections) and/or differences in hormonal metabolism as described in other estrogen-related diseases, such as breast cancer and osteoporosis (37)(38)(39)(40). Obesity has been associated with adverse reproductive outcomes in IVF, but associations with EP have not been consistent (41)(42)(43).…”

Human genetic variation and health: new assessment approaches based on ethnogenetic layering

“…The genetic variability of these two highly diverse groups was assessed using 1131 randomly selected individuals evaluated at six polymorphic restriction sites for five important candidate genes for BMD. Specifically, Dvornyk and colleagues 30 focused on the BsaHI polymorphism of the calcium-sensing receptor (CASR) gene, the SacI polymorphism of the alpha2HS-glycoprotein (AHSG) gene, the PvuII and XbaI polymorphisms of the oestrogen receptor alpha (ESR1) gene, the ApaI polymorphism of the vitamin D receptor (VDR) gene, and the BstBI polymorphism of the parathyroid hormone (PTH) gene.…”

“…Whereas average BMD differs among macroethnic groups, several important candidate genes have been shown to underlie intra-macroethnic group BMD variation. Dvornyk and colleagues 30 investigated whether important candidate genes contributed to macroethnic differences in BMD by evaluating the degree of genetic differentiation among five important candidate genes observed in European Caucasians and Han Chinese. The genetic variability of these two highly diverse groups was assessed using 1131 randomly selected individuals evaluated at six polymorphic restriction sites for five important candidate genes for BMD.…”