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At least 19 recordsLinked to original sources
PubMed2025

Largest-Scale Genomic Resource Reconstructing the Genetic Origin, Population Structure, and Biological Adaptations of the Hui People.

Historical and archaeological records indicate that the Maritime and Land Silk Roads played a pivotal role in facilitating Trans-Eurasian migrations and cultural exchanges. However, the extent to which population movements or the spread of ideas shape Chinese Hui populations remains debated. We present the largest genomic resource to date, including 2,280 Hui individuals sequenced or genotyped from 30 diverse regions, to examine the genetic origins, population structure, and biological adaptations of this underrepresented group in global human genome research. We identified a detailed population structure characterized by five distinct genetic lineages of the Hui, influenced by geography and varying gene flow. The admixture history and demographic events suggest that the northwestern and northern Hui lineages emerged from demic diffusion during the Tang and Yuan Dynasties via the Land Silk Road. In contrast, the southern and island Hui lineages reflect cultural diffusion along the Maritime Silk Road, while the mixed southern-northern lineage likely developed through a combination of demic and cultural diffusion. Our findings support a hybrid model for Hui formation, indicating that both demographic processes and sociocultural transmissions contributed to their population history. We identified east-west highly differentiated variants and pre- and post-admixture adaptations in Hui genomes, demonstrating that admixture-driven adaptive or neutral variants impacted susceptibility to cardiovascular diseases and immune- and diet-related traits. These adaptive signatures include post-admixture signals of SLC24A5 and ECHDC1 in the Hui, as well as pre-admixture signals of the HLA region, BCL2A1, and KCNH8 in the East Asian source. Overall, our study suggests that Han-related genetic components helped the Hui population rapidly adapt to new local environments. Additionally, the frequency spectrum of clinically essential variants differed significantly between Hui and Han individuals, emphasizing the importance of including underrepresented populations in genomic research to promote health equity.

Humans↗
PubMed1991

Biological adaptation and dysadaptation of the heart to chronic arterial hypertension: a review.

Cardiac hypertrophy which occurs during chronic arterial hypertension is one of the numerous examples of biological adaptation to environmental requirements. As such, it is obtained at random by trial and error, and adaptation represents the sum of various modifications in gene expression, including the shift in isomyosin or in iso-Na+,K(+)-ATPase, the decrease in beta 1-adrenergic or muscarinic receptors or in sarcoplasmic reticulum Ca(2+)-ATPase densities, and the unchanged density in calcium channels and current. Some of these changes are beneficial at the cellular level but are finally detrimental for the organism as a whole, such as slowing of maximum shortening velocity (Vmax). The prolonged calcium transient is likely to be a consequence of the various modifications of the membranes phenotype and provides a rational basis for arrhythmogenicity of the hypertrophied heart. There are also detrimental modifications, such as the increased collagen concentration and vascular hypertrophy, which may result from the accompanying changes in plasma content in several hormones or peptides.

Adaptation, Physiological↗
PubMed1992

Biological adaptation of the myocardium to a permanent change in loading conditions.

Cardiac hypertrophy due to permanent mechanical overloading is only one example among thousands of the general process of biological adaptation. The process is randomly governed and results in at least one thermodynamical benefit: to be adaptational and to induce several changes in gene expression. Some of these changes are detrimental, some can even be useless. The cascade of events which finally leads to a permanent modification of the genetic expression involves an initial signal, likely to be the stretch, a pathway which transducts the signal, and a transient change in genetic expression which transmits competence to the cell to be transformed. The permanent modifications occur at all cellular levels including the sarcomere, sarcolemma, energy metabolism, and extra-cellular matrix, but they are species-specific and differ in the ventricles and the atria.

Adaptation, Physiological↗
PubMed2000

Obesity: a disease or a biological adaptation?

The increase in obesity prevalence is problematic as this condition is associated with health complications such as diabetes and cardiovascular diseases, more particularly when the excess body fat is stored in the deep abdominal region. On the other hand, obesity facilitates the maintenance of body homeostasis probably because of an increased hormonal gradient which favours the regulation of energy balance, to give but one example. The regulation potential of excess body fat is particularly apparent in the reduced-obese state where a reduction of energy expenditure, fat oxidation and some immune system markers, as well as an increase in appetite, stress vulnerability and circulating and adipose tissue organochlorines have been observed. These constitute another category of risk factors which can certainly favour the accumulation of body fat to reestablish body homeostasis on other fronts. Under such conditions, obesity is perceived by the physiologist as a necessary biological adaptation rather than a disease. For health professionals, this emphasizes the importance to seek a reasonable compromise between the favourable reduction of risk to develop metabolic complications by body weight loss and the physiological vulnerability which is also generated by such an intervention.

Adaptation, Physiological↗