CER 1 gene polymorphism in postmenopausal Roma and non-Roma Slovak women in connection with osteoporosis.

OBJECTIVE: The aim of our study was to investigate the relationship between the rs74434454 polymorphism of the CER1 gene and selected biochemical, densitometric and anthropometric markers in Slovak postmenopausal women of two ethnic groups: Roma and non-Roma. SUBJECTS AND METHODS: The scientific study included 303 postmenopausal women of the non-Roma and Roma populations who were divided into two groups based on densitometric measurements: control group (CG) and osteoporotic group (OG). Genomic DNA was isolated from peripheral blood using a commercial NucleoSpin® Blood kit following a standard protocol. The TaqMan Real-Time PCR method was used for genotyping. Biochemical markers were measured with Cobas e411 and Cobas Integra400 plus analysers. RESULTS: In the control group of postmenopausal Roma women, the occurrence of the risk genotype GG was not observed. In the group of Roma women with osteopenia and osteoporosis, the GG genotype occurred at a frequency of 3.03%. In the group of non-Roma women (between CG and OG) statistically significant differences were found in all monitored biochemical markers except CTx-I (p<0.66). In contrast, in the group of Roma women, statistical significance was only found in the osteoresorption marker CTx-I (p<0.007). In the population of Roma women, we did not find a statistically significant difference between the AA, AG and GG genotypes in any of the monitored markers. CONCLUSIONS: The results provide the first and unique insight on the distribution of genotypes and alleles of the rs74434454 CER1 gene polymorphism and its relationship to markers of bone metabolism in two ethnically distinct groups.

Preliminary results of ethnic divergence of G1181C (rs2073618) and C290T (rs9525641) OPG gene polymorphisms in groups of postmenopausal Slovak women.

OBJECTIVE: In this study, we focused on observation of the genetic polymorphisms of the OPG genes G1181C (rs2073618) and C290T (rs9525641), their interactions with biochemical markers and anthropometric parameters in groups of postmenopausal Slovak women (Roma and non-Roma, n = 311). PATIENTS AND METHODS: Genomic DNA was extracted and purified from peripheral blood leukocytes by the kit Ultraclean® Blood non-spin® (Carlsbad, CA, USA) using a standard protocol. Genotyping was performed by the TaqMan SNP genotyping assay. Biochemical markers were measured by the Cobas e411 (Roche Diagnostic, Tokyo, Japan) and Cobas Integra400 plus (Roche Diagnostic, Rotkreuz, Switzerland) analysers. RESULTS: We recorded a higher frequency of the T allele in the C290T polymorphism of the non-Roma control group (53.846%), in Roma groups: control (T - 56.618%) osteoporotic (T - 51.471%). In the G1181C polymorphism, the CC genotype occurred more in the osteoporotic group (34.286%) compared to the control group (27.885%). In the group of postmenopausal Roma women, a statistically significant difference (p<0.05) was found between osteoporotic and control in the biochemical parameters' osteocalcin, C-terminal telopeptide I, and age. Statistically significant differences (p<0.0001) were also found in bone mineral density and T-score. The high odds ratio suggests the association of G1181C with osteoporosis. A close relationship was found between haplotypes, BMD, T-score, and IL-6 in control; and BMI, WHR, T-score, and osteocalcin in osteoporotic groups of Roma and non-Roma women. CONCLUSIONS: The results point to differences in the occurrence of genotypes and associations of haplotypes with the manifestation of osteoporosis in Roma and non-Roma women. However, a larger number of samples is needed to determine whether or not there are differences between the Roma and non-Roma populations.