Evolutionary Genetics: Genetics of lactase persistence – fresh lessons in the history of milk drinking

Hollox, Edward J.

doi:10.1038/sj.ejhg.5201297

Cited by 22 publications

(15 citation statements)

References 13 publications

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“…This is clearly the case for the three SNPs located in the genomic region corresponding to hsa-mir-128-1 within the R3HDM1 gene, which is in fact in the vicinity (within 1 Mb) of an LD region containing the lactase gene (LCT), for which selection-based evolutionary change in humans has already been established. 29 The other SNP is located in a genomic region for which positive selection has not been shown. In fact, analyzing the extension of the regions showing geographical differences, as well as the ancestral alleles, is important to discern whether the real cause for these differences is natural selection.…”

Section: Discussionmentioning

confidence: 99%

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

Muiños‐Gimeno

Montfort²,

Bayés³

et al. 2009

Eur J Hum Genet

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MicroRNAs (miRNA) are recognized posttranscriptional gene repressors involved in the control of almost every biological process. Allelic variants in these regions may be an important source of phenotypic diversity and contribute to disease susceptibility. We analyzed the genomic organization of 325 human miRNAs (release 7.1, miRBase) to construct a panel of 768 single-nucleotide polymorphisms (SNPs) covering B1 Mb of genomic DNA, including 131 isolated miRNAs (40%) and 194 miRNAs arranged in 48 miRNA clusters, as well as their 5-kb flanking regions. Of these miRNAs, 37% were inside known protein-coding genes, which were significantly associated with biological functions regarding neurological, psychological or nutritional disorders. SNP coverage analysis revealed a lower SNP density in miRNAs compared with the average of the genome, with only 24 SNPs located in the 325 miRNAs studied. Further genotyping of 340 unrelated Spanish individuals showed that more than half of the SNPs in miRNAs were either rare or monomorphic, in agreement with the reported selective constraint on human miRNAs. A comparison of the minor allele frequencies between Spanish and HapMap population samples confirmed the applicability of this SNP panel to the study of complex disorders among the Spanish population, and revealed two miRNA regions, hsa-mir-26a-2 in the CTDSP2 gene and hsa-mir-128-1 in the R3HDM1 gene, showing geographical allelic frequency variation among the four HapMap populations, probably because of differences in natural selection. The designed miRNA SNP panel could help to identify still hidden links between miRNAs and human disease.

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Section: Discussionmentioning

confidence: 99%

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

Muiños‐Gimeno

Montfort²,

Bayés³

et al. 2009

Eur J Hum Genet

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“…[1] In some people, the ability to digest and absorb lactose decreases to less than 10% as they get older due to a decline in lactasephlorizin hydrolase (LPH) enzyme secretion. [2] The presence of malabsorbed lactose in the colonic lumen causes gastrointestinal symptoms.…”

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confidence: 99%

Subjective lactose intolerance in apparently healthy adults in southern Iran: Is it related to irritable bowel syndrome?

Saberifiroozi¹,

Khademolhosseini²,

Mehrabani³

et al. 2007

Indian J Med Sci

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“…After genotyping a group of 341 Spanish control individuals, allele frequencies between the HapMap European population and the specific North-East Spanish (Catalan) population were compared and pointed out to two genomic regions showing geographic genetic variation among populations. Remarkably, one of these regions is the LCT region (containing hsa-miR-128-1), a region that has already been shown to be under selective pressure (Beja-Pereira et al, 2003;Hollox, 2005). Our group has been the first to show an implication of miRNAs in the aetiology of panic disorder (Table 1).…”

Section: Association Studies Of Mirna Genes With Anxiety Disordermentioning

confidence: 93%

MicroRNA-Mediated Regulation and the Genetic Susceptibility to Anxiety Disorders

Espinosa‐Parrilla¹,

Muiños‐Gimeno²

2011

Anxiety Disorders

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Evolutionary Genetics: Genetics of lactase persistence – fresh lessons in the history of milk drinking

Cited by 22 publications

References 13 publications

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

Subjective lactose intolerance in apparently healthy adults in southern Iran: Is it related to irritable bowel syndrome?

MicroRNA-Mediated Regulation and the Genetic Susceptibility to Anxiety Disorders

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