https://transhumanist.ru/index.php?action=history&feed=atom&title=ACP2ACP2 - История изменений2026-04-07T04:08:00ZИстория изменений этой страницы в викиMediaWiki 1.43.6https://transhumanist.ru/index.php?title=ACP2&diff=5798&oldid=prevOdysseusBot: Новая страница: «Lysosomal acid phosphatase precursor (EC 3.1.3.2) (LAP) ==Publications== {{medline-entry |title=Association of levels of fasting glucose and insulin with rare v...»2021-05-12T14:52:38Z<p>Новая страница: «Lysosomal acid phosphatase precursor (EC 3.1.3.2) (LAP) ==Publications== {{medline-entry |title=Association of levels of fasting glucose and insulin with rare v...»</p>
<p><b>Новая страница</b></p><div>Lysosomal acid phosphatase precursor (EC 3.1.3.2) (LAP)<br />
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==Publications==<br />
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{{medline-entry<br />
|title=Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-[[MADD]] locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24951664<br />
|abstract=Common variation at the 11p11.2 locus, encompassing [[MADD]], [[ACP2]], [[NR1H3]], [[MYBPC3]], and [[SPI1]], has been associated in genome-wide association studies with fasting glucose and insulin (FI). In the Cohorts for Heart and Aging Research in Genomic Epidemiology Targeted Sequencing Study, we sequenced 5 gene regions at 11p11.2 to identify rare, potentially functional variants influencing fasting glucose or FI levels. Sequencing (mean depth, 38×) across 16.1 kb in 3566 individuals without diabetes mellitus identified 653 variants, 79.9% of which were rare (minor allele frequency <1%) and novel. We analyzed rare variants in 5 gene regions with FI or fasting glucose using the sequence kernel association test. At [[NR1H3]], 53 rare variants were jointly associated with FI (P=2.73×10(-3)); of these, 7 were predicted to have regulatory function and showed association with FI (P=1.28×10(-3)). Conditioning on 2 previously associated variants at [[MADD]] (rs7944584, rs10838687) did not attenuate this association, suggesting that there are >2 independent signals at 11p11.2. One predicted regulatory variant, chr11:47227430 (hg18; minor allele frequency=0.00068), contributed 20.6% to the overall sequence kernel association test score at [[NR1H3]], lies in intron 2 of [[NR1H3]], and is a predicted binding site for forkhead box A1 ([[FOXA1]]), a transcription factor associated with insulin regulation. In human HepG2 hepatoma cells, the rare chr11:47227430 A allele disrupted [[FOXA1]] binding and reduced [[FOXA1]]-dependent transcriptional activity. Sequencing at 11p11.2-[[NR1H3]] identified rare variation associated with FI. One variant, chr11:47227430, seems to be functional, with the rare A allele reducing transcription factor [[FOXA1]] binding and [[FOXA1]]-dependent transcriptional activity.<br />
|mesh-terms=* Aged<br />
* Aged, 80 and over<br />
* Aging<br />
* Blood Glucose<br />
* Chromosomes, Human, Pair 11<br />
* Cohort Studies<br />
* Death Domain Receptor Signaling Adaptor Proteins<br />
* Diabetes Mellitus, Type 2<br />
* Fasting<br />
* Female<br />
* Gene Frequency<br />
* Genetic Variation<br />
* Genome-Wide Association Study<br />
* Genomics<br />
* Guanine Nucleotide Exchange Factors<br />
* Heart Diseases<br />
* Humans<br />
* Insulin<br />
* Male<br />
* Middle Aged<br />
* Polymorphism, Single Nucleotide<br />
* Sequence Analysis, DNA<br />
|keywords=* genetic epidemiology<br />
* glucose<br />
* human genetics<br />
* insulin<br />
* molecular genetics<br />
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066205<br />
}}</div>OdysseusBot