A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

Autor: Anna L. Guyatt, Rebecca R. Brennan, Kimberley Burrows, Philip A. I. Guthrie, Raimondo Ascione, Susan M. Ring, Tom R. Gaunt, Angela Pyle, Heather J. Cordell, Debbie A. Lawlor, Patrick F. Chinnery, Gavin Hudson, Santiago Rodriguez

Publikováno v: Human Genomics, Vol 13, Iss 1, Pp 1-17 (2019)

Abstract Background Mitochondrial DNA copy number (mtDNA CN) exhibits interindividual and intercellular variation, but few genome-wide association studies (GWAS) of directly assayed mtDNA CN exist. We undertook a GWAS of qPCR-assayed mtDNA CN in the

Externí odkaz: https://doaj.org/article/95d496379dc34161a648e6aacd65523e

Frequency of KLK3 gene deletions in the general population

Autor: Hashem A. Shihab, Ian N M Day, Khalid Khalaf Alharbi, Philip A. I. Guthrie, Tom R. Gaunt, Santiago Rodriguez, Wendy L. McArdle, Osama A. Al-Ghamdi

Publikováno v: Rodriguez, S, Alghamdi, O, Guthrie, P, Shihab, H, McArdle, W, Gaunt, T, Alharbi, K K & Day, I 2017, ' Frequency of KLK3 gene deletions in the general population ', Annals of Clinical Biochemistry, vol. 54, no. 4, pp. 472-480 . https://doi.org/10.1177/0004563216666999

Background One of the kallikrein genes ( KLK3) encodes prostate-specific antigen, a key biomarker for prostate cancer. A number of factors, both genetic and non-genetic, determine variation of serum prostate-specific antigen concentrations in the pop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c494cc09d6de43a65ef933d289376b0
https://europepmc.org/articles/PMC6005345/

Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol

Autor: Tom R. Gaunt, Ian N. M. Day, Santiago Rodriguez, George Davey Smith, Debbie A Lawlor, Philip A. I. Guthrie

Publikováno v: Gene

HP and HPR are related and contiguous genes in strong linkage disequilibrium (LD), encoding haptoglobin and haptoglobin-related protein. These bind and chaperone free Hb for recycling, protecting against oxidation. A copy number variation (CNV) withi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a17cc26ac7a4793b5560be9267c6c4
https://doi.org/10.1016/j.gene.2012.03.034

IQ, Educational Attainment, Memory and Plasma Lipids: Associations with Apolipoprotein E Genotype in 5995 Children

Autor: George Davey Smith, Ian N. M. Day, Jean Golding, Aroon D. Hingorani, Amy E Taylor, Philip A. I. Guthrie, John E. Deanfield, Naveed Sattar

Publikováno v: Biological Psychiatry. 70:152-158

Background Apolipoprotein E ( APOE ) genotype (e2/e3/e4: rs429358 e4 allele; rs7412 e2 allele) is strongly associated with both lipid levels and Alzheimer's disease. Although there is also evidence of milder cognitive impairment in later life in carr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd93d7c5131a5912b3a0c1772885728b
https://doi.org/10.1016/j.biopsych.2010.10.033

Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC

Autor: A Mesut, Erzurumluoglu, Muslim M, Alsaadi, Santiago, Rodriguez, Tahani S, Alotaibi, Philip A I, Guthrie, Sian, Lewis, Aasiya, Ginwalla, Tom R, Gaunt, Khalid K, Alharbi, Fahad M, Alsaif, Basma M, Alsaadi, Ian N M, Day

Publikováno v: PLoS ONE

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4b5fe40647a1fd45d88980720c102c8e
https://pubmed.ncbi.nlm.nih.gov/25799584