| Title |
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
|
|---|---|
| Published in |
Nature Genetics, July 1999
|
| DOI | 10.1038/10297 |
| Pubmed ID | |
| Authors |
Marc K. Halushka, Jian-Bing Fan, Kimberly Bentley, Linda Hsie, Naiping Shen, Alan Weder, Richard Cooper, Robert Lipshutz, Aravinda Chakravarti |
| Abstract |
Sequence variation in human genes is largely confined to single-nucleotide polymorphisms (SNPs) and is valuable in tests of association with common diseases and pharmacogenetic traits. We performed a systematic and comprehensive survey of molecular variation to assess the nature, pattern and frequency of SNPs in 75 candidate human genes for blood-pressure homeostasis and hypertension. We assayed 28 Mb (190 kb in 148 alleles) of genomic sequence, comprising the 5' and 3' untranslated regions (UTRs), introns and coding sequence of these genes, for sequence differences in individuals of African and Northern European descent using high-density variant detection arrays (VDAs). We identified 874 candidate human SNPs, of which 22% were confirmed by DNA sequencing to reveal a discordancy rate of 21% for VDA detection. The SNPs detected have an average minor allele frequency of 11%, and 387 are within the coding sequence (cSNPs). Of all cSNPs, 54% lead to a predicted change in the protein sequence, implying a high level of human protein diversity. These protein-altering SNPs are 38% of the total number of such SNPs expected, are more likely to be population-specific and are rarer in the human population, directly demonstrating the effects of natural selection on human genes. Overall, the degree of nucleotide polymorphism across these human genes, and orthologous great ape sequences, is highly variable and is correlated with the effects of functional conservation on gene sequences. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 267 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 10 | 4% |
| Germany | 3 | 1% |
| Switzerland | 2 | <1% |
| Australia | 2 | <1% |
| Colombia | 1 | <1% |
| Norway | 1 | <1% |
| Indonesia | 1 | <1% |
| Netherlands | 1 | <1% |
| United Kingdom | 1 | <1% |
| Other | 3 | 1% |
| Unknown | 242 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 63 | 24% |
| Student > Ph. D. Student | 36 | 13% |
| Student > Master | 28 | 10% |
| Student > Bachelor | 25 | 9% |
| Professor > Associate Professor | 24 | 9% |
| Other | 61 | 23% |
| Unknown | 30 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 106 | 40% |
| Biochemistry, Genetics and Molecular Biology | 45 | 17% |
| Medicine and Dentistry | 30 | 11% |
| Chemistry | 9 | 3% |
| Neuroscience | 8 | 3% |
| Other | 31 | 12% |
| Unknown | 38 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 16. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 February 2024.
All research outputs
#1,963,988
of 23,477,147 outputs
Outputs from Nature Genetics
#2,604
of 7,277 outputs
Outputs of similar age
#1,095
of 35,253 outputs
Outputs of similar age from Nature Genetics
#3
of 53 outputs
Altmetric has tracked 23,477,147 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,277 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.7. This one has gotten more attention than average, scoring higher than 63% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 35,253 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 96% of its contemporaries.
We're also able to compare this research output to 53 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.