BACKGROUND Publicly available genome data provides valuable information on the genetic variation patterns across different modern human populations. Neuropeptide genes are crucial to the nervous, immune, endocrine system, and physiological homeostasis as they play an essential role in communicating information in neuronal functions. It remains unclear how evolutionary forces, such as natural selection and random genetic drift, have affected neuropeptide genes among human populations. To date, there are over 100 known human neuropeptides from the over 1000 predicted peptides encoded in the genome. The purpose of this study is to analyze and explore the genetic variation in continental human populations across all known neuropeptide genes by examining highly differentiated SNPs between African and non-African populations. RESULTS We identified a total of 644,225 SNPs in 131 neuropeptide genes in 6 worldwide population groups from a public database. Of these, 5163 SNPs that had ΔDAF |(African - non-African)| ≥ 0.20 were identified and fully annotated. A total of 20 outlier SNPs that included 19 missense SNPs with a moderate impact and one stop lost SNP with high impact, were identified in 16 neuropeptide genes. Our results indicate that an overall strong population differentiation was observed in the non-African populations that had a higher derived allele frequency for 15/20 of those SNPs. Highly differentiated SNPs in four genes were particularly striking: NPPA (rs5065) with high impact stop lost variant; CHGB (rs6085324, rs236150, rs236152, rs742710 and rs742711) with multiple moderate impact missense variants; IGF2 (rs10770125) and INS (rs3842753) with moderate impact missense variants that are in linkage disequilibrium. Phenotype and disease associations of these differentiated SNPs indicated their association with hypertension and diabetes and highlighted the pleiotropic effects of these neuropeptides and their role in maintaining physiological homeostasis in humans. CONCLUSIONS We compiled a list of 131 human neuropeptide genes from multiple databases and literature survey. We detect significant population differentiation in the derived allele frequencies of variants in several neuropeptide genes in African and non-African populations. The results highlights SNPs in these genes that may also contribute to population disparities in prevalence of diseases such as hypertension and diabetes.

中文翻译：

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选定的神经肽基因显示出非洲人和非非洲人之间的遗传分化。

背景技术公开可获得的基因组数据提供了关于不同现代人群的遗传变异模式的有价值的信息。神经肽基因对于神经，免疫，内分泌系统和生理稳态至关重要，因为它们在神经元功能的信息交流中起着至关重要的作用。尚不清楚诸如自然选择和随机遗传漂移之类的进化力如何影响人类人群中的神经肽基因。迄今为止，基因组中编码的1000多种预测的肽中有100多种已知的人神经肽。这项研究的目的是通过检查非洲和非非洲人群之间的高分化SNP，分析和探索大陆人群中所有已知神经肽基因的遗传变异。结果我们从一个公共数据库中确定了6个全球人群中131个神经肽基因中的644,225个SNP。其中有5163个具有ΔDAF|（非洲-非非洲）|的SNP。≥≥0.20并已完全注释。在16个神经肽基因中共鉴定出20个异常SNP，包括19个中等影响的错义SNP和1个高影响的停位SNP。我们的结果表明，在非非洲人群中观察到总体上强烈的群体分化，这些人群中15/20的SNP具有较高的衍生等位基因频率。四个基因中高度分化的SNP特别引人注目：具有高影响力的NPPA（rs5065）阻止了丢失的变异；CHGB（rs6085324，rs236150，rs236152，rs742710和rs742711），具有多个中等冲击错义变体；具有中等影响的错义变体的IGF2（rs10770125）和INS（rs3842753），处于连锁不平衡状态。这些分化的SNP的表型和疾病关联表明它们与高血压和糖尿病有关，并突显了这些神经肽的多效性及其在维持人体生理稳态中的作用。结论我们从多个数据库和文献调查中汇编了131种人类神经肽基因清单。我们在非洲和非非洲人口的几个神经肽基因的变异的等位基因频率中检测到显着的人口分化。结果突出显示了这些基因中的SNP，也可能导致高血压和糖尿病等疾病的普遍流行。这些分化的SNP的表型和疾病关联表明它们与高血压和糖尿病有关，并突显了这些神经肽的多效性及其在维持人体生理稳态中的作用。结论我们从多个数据库和文献调查中汇编了131种人类神经肽基因清单。我们在非洲和非非洲人口的几个神经肽基因的变异的等位基因频率中检测到显着的人口分化。结果突出显示了这些基因中的SNP，也可能导致高血压和糖尿病等疾病的普遍流行。这些分化的SNP的表型和疾病关联表明它们与高血压和糖尿病有关，并突显了这些神经肽的多效性及其在维持人体生理稳态中的作用。结论我们从多个数据库和文献调查中汇编了131种人类神经肽基因清单。我们在非洲和非非洲人口的几个神经肽基因的变异的等位基因频率中检测到显着的人口分化。结果突出显示了这些基因中的SNP，也可能导致高血压和糖尿病等疾病的普遍流行。