Department of Life and Environment Sciences, University of Cagliari, 09042 Cagliari, Italy.
Department of Medical Sciences and Public Health, University of Cagliari, 09042 Cagliari, Italy.
Genes (Basel). 2023 Sep 30;14(10):1895. doi: 10.3390/genes14101895.
The gene is involved in the development of skeletal elements, synovial joint formation, tendons, ligaments, and cartilage. Several polymorphisms are present within the gene, and two of them, rs143384 and 143383, were reported to be correlated with osteoarticular disease or muscle flexibility. The aim of this research is to verify if the worldwide distribution of the rs143384 polymorphism among human populations was shaped by selective pressure, or if it was the result of random genetic drift events. Ninety-four individuals of both the male and female sexes, 18-28 years old, from Sardinia were analyzed. We observed the following genotype frequencies: 28.72% of AA homozygotes, 13.83% of GG homozygotes, and 57.45% of AG heterozygotes. The allele frequencies were 0.574 for allele A and 0.426 for allele G. The relationships between the populations were verified via Multidimensional Scaling (MDS). Our data show (i) a clear heterogeneity within the African populations; (ii) a strong differentiation between the African populations and the other populations; and that (iii) the Sardinian population is placed within the European cluster. To reveal possible traces of selective pressure, the Population Branch Statistic (PBS) was calculated; both the rs143384 and 143383 SNPs have low PBS values, suggesting that there are no signals of selective pressure in those areas of the gene.
该基因参与骨骼元素的发育、滑膜关节形成、肌腱、韧带和软骨。该基因中存在多个多态性，其中两个多态性 rs143384 和 143383 与骨关节炎或肌肉灵活性相关。本研究旨在验证 rs143384 多态性在全球人群中的分布是否受到选择压力的影响，还是随机遗传漂变事件的结果。分析了来自撒丁岛的 94 名男性和女性，年龄在 18-28 岁之间。我们观察到以下基因型频率：28.72%的 AA 纯合子，13.83%的 GG 纯合子和 57.45%的 AG 杂合子。等位基因频率为等位基因 A 的 0.574 和等位基因 G 的 0.426。通过多维尺度分析（MDS）验证了人群之间的关系。我们的数据显示：（i）非洲人群内存在明显的异质性；（ii）非洲人群与其他人群之间存在强烈的分化；（iii）撒丁岛人群位于欧洲群体中。为了揭示可能存在的选择压力痕迹，计算了种群分支统计量（PBS）；rs143384 和 143383 SNP 都具有较低的 PBS 值，表明该基因区域没有选择压力的信号。
