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1. A genome-wide association analysis reveals new pathogenic pathways in gout

Author

Major, Tanya J., Takei, Riku, Matsuo, Hirotaka, Leask, Megan P., Sumpter, Nicholas A., Topless, Ruth K., Shirai, Yuya, Wang, Wei, Cadzow, Murray J., Phipps-Green, Amanda J., Li, Zhiqiang, Ji, Aichang, Merriman, Marilyn E., Morice, Emily, Kelley, Eric E., Wei, Wen-Hua, McCormick, Sally P. A., Bixley, Matthew J., Reynolds, Richard J., Saag, Kenneth G., Fadason, Tayaza, Golovina, Evgenia, O’Sullivan, Justin M., Stamp, Lisa K., Dalbeth, Nicola, Abhishek, Abhishek, Doherty, Michael, Roddy, Edward, Jacobsson, Lennart T. H., Kapetanovic, Meliha C., Melander, Olle, Andrés, Mariano, Pérez-Ruiz, Fernando, Torres, Rosa J., Radstake, Timothy, Jansen, Timothy L., Janssen, Matthijs, Joosten, Leo A. B., Liu, Ruiqi, Gaal, Orsolya I., Crişan, Tania O., Rednic, Simona, Kurreeman, Fina, Huizinga, Tom W. J., Toes, René, Lioté, Frédéric, Richette, Pascal, Bardin, Thomas, Ea, Hang Korng, Pascart, Tristan, McCarthy, Geraldine M., Helbert, Laura, Stibůrková, Blanka, Tausche, Anne-K., Uhlig, Till, Vitart, Véronique, Boutin, Thibaud S., Hayward, Caroline, Riches, Philip L., Ralston, Stuart H., Campbell, Archie, MacDonald, Thomas M., Nakayama, Akiyoshi, Takada, Tappei, Nakatochi, Masahiro, Shimizu, Seiko, Kawamura, Yusuke, Toyoda, Yu, Nakaoka, Hirofumi, Yamamoto, Ken, Matsuo, Keitaro, Shinomiya, Nariyoshi, Ichida, Kimiyoshi, Lee, Chaeyoung, Bradbury, Linda A., Brown, Matthew A., Robinson, Philip C., Buchanan, Russell R. C., Hill, Catherine L., Lester, Susan, Smith, Malcolm D., Rischmueller, Maureen, Choi, Hyon K., Stahl, Eli A., Miner, Jeff N., Solomon, Daniel H., Cui, Jing, Giacomini, Kathleen M., Brackman, Deanna J., Jorgenson, Eric M., Liu, Hongbo, Susztak, Katalin, Shringarpure, Suyash, So, Alexander, Okada, Yukinori, Li, Changgui, Shi, Yongyong, and Merriman, Tony R.

Published
2024
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2. Publisher Correction: A genome-wide association analysis reveals new pathogenic pathways in gout

Author

Major, Tanya J., Takei, Riku, Matsuo, Hirotaka, Leask, Megan P., Sumpter, Nicholas A., Topless, Ruth K., Shirai, Yuya, Wang, Wei, Cadzow, Murray J., Phipps-Green, Amanda J., Li, Zhiqiang, Ji, Aichang, Merriman, Marilyn E., Morice, Emily, Kelley, Eric E., Wei, Wen-Hua, McCormick, Sally P. A., Bixley, Matthew J., Reynolds, Richard J., Saag, Kenneth G., Fadason, Tayaza, Golovina, Evgenia, O’Sullivan, Justin M., Stamp, Lisa K., Dalbeth, Nicola, Abhishek, Abhishek, Doherty, Michael, Roddy, Edward, Jacobsson, Lennart T. H., Kapetanovic, Meliha C., Melander, Olle, Andrés, Mariano, Pérez-Ruiz, Fernando, Torres, Rosa J., Radstake, Timothy, Jansen, Timothy L., Janssen, Matthijs, Joosten, Leo A. B., Liu, Ruiqi, Gaal, Orsolya I., Crişan, Tania O., Rednic, Simona, Kurreeman, Fina, Huizinga, Tom W. J., Toes, René, Lioté, Frédéric, Richette, Pascal, Bardin, Thomas, Ea, Hang Korng, Pascart, Tristan, McCarthy, Geraldine M., Helbert, Laura, Stibůrková, Blanka, Tausche, Anne-K., Uhlig, Till, Vitart, Véronique, Boutin, Thibaud S., Hayward, Caroline, Riches, Philip L., Ralston, Stuart H., Campbell, Archie, MacDonald, Thomas M., Nakayama, Akiyoshi, Takada, Tappei, Nakatochi, Masahiro, Shimizu, Seiko, Kawamura, Yusuke, Toyoda, Yu, Nakaoka, Hirofumi, Yamamoto, Ken, Matsuo, Keitaro, Shinomiya, Nariyoshi, Ichida, Kimiyoshi, Lee, Chaeyoung, Bradbury, Linda A., Brown, Matthew A., Robinson, Philip C., Buchanan, Russell R. C., Hill, Catherine L., Lester, Susan, Smith, Malcolm D., Rischmueller, Maureen, Choi, Hyon K., Stahl, Eli A., Miner, Jeff N., Solomon, Daniel H., Cui, Jing, Giacomini, Kathleen M., Brackman, Deanna J., Jorgenson, Eric M., Liu, Hongbo, Susztak, Katalin, Shringarpure, Suyash, So, Alexander, Okada, Yukinori, Li, Changgui, Shi, Yongyong, and Merriman, Tony R.

Published
2024
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4. In season

Author

McCormick, Sally

Published
2005

5. A Polynesian-specific missense CETP variant alters the lipid profile

Author

Moors, Jaye, Krishnan, Mohanraj, Sumpter, Nick, Takei, Riku, Bixley, Matt, Cadzow, Murray, Major, Tanya J., Phipps-Green, Amanda, Topless, Ruth, Merriman, Marilyn, Rutledge, Malcolm, Morgan, Ben, Carlson, Jenna C., Zhang, Jerry Z., Russell, Emily M., Sun, Guangyun, Cheng, Hong, Weeks, Daniel E., Naseri, Take, Reupena, Muagututi’a Sefuiva, Viali, Satupa’itea, Tuitele, John, Hawley, Nicola L., Deka, Ranjan, McGarvey, Stephen T., de Zoysa, Janak, Murphy, Rinki, Dalbeth, Nicola, Stamp, Lisa, Taumoepeau, Mele, King, Frances, Wilcox, Phillip, Rapana, Nuku, McCormick, Sally, Minster, Ryan L., Merriman, Tony R., and Leask, Megan

Published
2023
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7. Exploring parents’ experiences of working with educational psychologists to support their autistic daughters.

Author

McCormick, Sally and Thomas, George

Subjects
*EDUCATIONAL psychologists, *EDUCATIONAL psychology, *PARENTS, *THEMATIC analysis, *EDUCATIONAL support
Abstract

Understanding of autism has changed considerably in recent years, with growing awareness of the under-recognition of autism in girls. Research has sought to explain the under-diagnosis and experiences of autistic girls, and to provide recommendations for support. Research has also highlighted that parents are often dismissed by professionals; thus, it is crucial that the experiences of parents are represented in the literature. This study explored parents’ experiences of working with educational psychologists to support their autistic daughters. A single embedded case study design and semi-structured interviews were utilised to explore the experiences of five parents of autistic girls. Interviews were analysed using a deductive-inductive approach to thematic analysis. Nine themes and 22 subthemes were identified which highlighted what parents found to be helpful/unhelpful, and areas for development, when working with educational psychologists to support their daughters. The findings are discussed in relation to the existing literature and implications for professional practice are highlighted. [ABSTRACT FROM AUTHOR]

Published
2024
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11. A Polynesian-specific SLC22A3 variant associates with low plasma lipoprotein(a) concentrations independent of apo(a) isoform size in males.

Author

Wang, Qian, McCormick, Sally, Leask, Megan P., Watson, Huti, O'Sullivan, Conor, Krebs, Jeremy D., Hall, Rosemary, Whitfield, Patricia, Merry, Troy L., Murphy, Rinki, and Shepherd, Peter R.

Subjects
*LIPOPROTEIN A, *BLOOD lipids, *APOLIPOPROTEIN B, *DISEASE risk factors, *GENETIC variation, *POLYMERASE chain reaction
Abstract

Lipoprotein(a) (Lp(a)) is a low-density lipoprotein (LDL)-like particle in which the apolipoprotein B component is covalently linked to apolipoprotein(a) (apo(a)). Lp(a) is a well-established independent risk factor for cardiovascular diseases. Plasma Lp(a) concentrations vary enormously between individuals and ethnic groups. Several nucleotide polymorphisms in the SLC22A3 gene associate with Lp(a) concentration in people of different ethnicities. We investigated the association of a Polynesian-specific (M¯ aori and Pacific peoples) SLC22A3 gene coding variant p.Thr44Met) with the plasma concentration of Lp(a) in a cohort of 302 healthy Polynesian males. An apo(a)-size independent assay assessed plasma Lp(a) concentrations; all other lipid and apolipoprotein concentrations were measured using standard laboratory techniques. Quantitative real-time polymerase chain reaction was used to determine apo(a) isoforms. The range of metabolic (HbA1c, blood pressure, and blood lipids) and blood lipid variables were similar between the non-carriers and carriers in age, ethnicity and BMI adjusted models. However, rs8187715 SLC22A3 variant was significantly associated with lower Lp(a) concentrations. Median Lp(a) concentration was 10.60 nmol/L (IQR: 5.40--41.00) in non-carrier group, and was 7.60 nmol/L (IQR: 5.50--12.10) in variant carrier group (P<0.05). Lp(a) concentration inversely correlated with apo(a) isoform size. After correction for apo(a) isoform size, metabolic parameters and ethnicity, the association between the SLC22A3 variant and plasma Lp(a) concentration remained. The present study is the first to identify the association of this gene variant and low plasma Lp(a) concentrations. This provides evidence for better guidance on ethnic specific cut-offs when defining 'elevated' and 'normal' plasma Lp(a) concentrations in clinical applications. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Association between lipoprotein(a), LPAgenetic risk score, aortic valve disease, and subsequent major adverse cardiovascular events

Author

Moore, Matthew K, Jones, Gregory T, McCormick, Sally, Williams, Michael J A, and Coffey, Sean

Abstract

Lipoprotein (a) [Lp(a)] is a type of cholesterol that is determined almost entirely by genetics. It is associated with heart disease and also stiffening of the heart valves. Recent advancements have made it possible to predict Lp(a) levels by analysing a person’s DNA. This study examines the association between genetically predicted Lp(a) and adverse outcomes.Genetically predicted Lp(a) accounts for 45% of the variability in the actual Lp(a) level.Both actual and genetically predicted Lp(a) are associated with heart valve disease and adverse heart outcomes. If the degree of narrowing of the arteries in the heart is already known, genetically predicted Lp(a) does not help further predict risk.

Published
2024
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20. A population-specific missense variant rs1597000001 inCETPpromotes a favorable lipid profile and reduces CETP activity

Author

Moors, Jaye, primary, Krishnan, Mohanraj, additional, Sumpter, Nick, additional, Takei, Riku, additional, Bixley, Matt, additional, Cadzow, Murray, additional, Major, Tanya J., additional, Phipps-Green, Amanda, additional, Topless, Ruth, additional, Merriman, Marilyn, additional, Rutledge, Malcolm, additional, Morgan, Ben, additional, Carlson, Jenna C., additional, Zhang, Jerry Z., additional, Russell, Emily M., additional, Sun, Guangyun, additional, Cheng, Hong, additional, Weeks, Daniel E., additional, Naseri, Take, additional, Sefuiva Reupena, Muagututi‘a, additional, Viali, Satupa‘itea, additional, Tuitele, John, additional, Hawley, Nicola L., additional, Deka, Ranjan, additional, McGarvey, Stephen T., additional, de Zoysa, Janak, additional, Murphy, Rinki, additional, Dalbeth, Nicola, additional, Stamp, Lisa, additional, Taumoepeau, Mele, additional, King, Frances, additional, Wilcox, Philip, additional, McCormick, Sally, additional, Minster, Ryan L., additional, Merriman, Tony R., additional, and Leask, Megan, additional

Published
2021
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29. A genome-wide association study of gout in people of European ancestry

Author

R. Merriman, Tony, Cadzow, Murray, E. Merriman, Marilyn, Phipps-Green, Amanda, Topless, Ruth, Abhishek, Abhishek, A. Bradbury, Linda, BUCHANAN, RUSSELL, Cremin, Katie, de Zoysa, Janak, Doherty, Michael, Hill, Catherine, Huizinga, Tom W.J., Jansen, Tim, Janssen, M., A.B. Joosten, Leo, Kurreeman, Fina, Lester, Susan, Lioté, Frederic, Macartney-Coxson, Donia, Matsuo, Hirotaka, McCarthy, Geraldine M, McCormick, Sally, Murphy, Rinki, Pavelka, Karel, Perez-Ruiz, Fernando, Puig, Juan, RDJ Radstake, Timothy, Riches, Philip, Rischmueller, Maureen, Roddy, Edward, Smith, Malcolm, A. Stahl, Eli, Stibůrková, Blanka, Stubbs, Richard, Tausche, Anne-Kathrin, Torres, Rosario, Walker, Rob, Yamamoto, Kentaro, Brown, Matthew A., K. Choi, Hyon, Dalbeth, Nicola, Miner, Jeffrey N., So, Alexander, K. Stamp, Lisa, and Major, Tanya

Subjects
Genetics not elsewhere classified, Anthropological genetics, Behavioural genetics
Abstract

Background/Purpose: Genome wide association studies (GWAS) have provided considerable insight into the molecular control of urate levels. However, less is known about the progression from asymptomatic hyperuricemia to gout. Our aim was to conduct a GWAS for gout in people of European ancestry using the largest number of cases of gout to date. Methods: This GWAS (7,431 cases and 105,631 controls) was comprised of three data sets: a mixed New Zealand (NZ), Eurogout, and Ardea Biosciences group (3,961 cases; 1,547 controls; genotyped using the Illumina CoreExome v24 array, 547,644 markers), a composite set from the Health Professionals Follow-Up (HPFS) and NursesÕ Health Studies (NHS) (1,038 cases; 1,095 controls; genotyped using the Illumina OmniExpress v12 array, 730,525 markers), and UK Biobank (2,432 cases; 102,989 controls; genotyped using an Affymetrix Axiom array, 820,967 markers). The UK Biobank genotypes were imputed to ~73.3M SNPs. Neither the NZ/Eurogout/Ardea nor NHS/HPFS genotype sets were imputed. Markers found within all three data sets (234,062) were identified and associated with gout (adjusted for sex and age), within each data set separately, using PLINK v1.9. An inverse-variance weighted meta-analysis of the results was then performed using the meta v4.4 package within R v3.2.3. The overall genome inflation factor was 0.90. Results: There were nine loci with experiment-wide significance (0.05/234,062; P < 2×10-7) for association with gout: ABCG2 (OR=1.77), SLC2A9 (OR=1.69), GCKR (OR=1.24), MLXIPL (OR=1.18), SLC17A1-A4 (OR=1.22), SLC16A9 (OR=1.18), SLC22A12 (OR=1.16), PDZK1 (OR=1.16), TRIM46 (OR=1.15). All nine of these loci have been previously associated with serum urate levels in genome-wide studies with the urate-increasing alleles also associated with increased risk of gout in this study. Conclusion: Our data emphasize the central importance of genetic involvement in serum urate levels, compared to the genetic involvement in MSU crystal formation, or the innate immune response, in determining gout.

Published
2019
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31. Mutagenesis of the human apolipoprotein B gene in a yeast artificial chromosome reveals the site of attachment for apolipoprotein(a)

Author

McCormick, Sally P.A., Ng, Jennifer K., Taylor, Stacy, Flynn, Laura M., Hammer, Robert E., and Young, Stephen G.

Subjects
Lipoprotein A -- Research, Binding sites (Biochemistry) -- Analysis, Mutagenesis -- Usage, Apolipoproteins -- Research, Chromosomes -- Analysis, Science and technology
Abstract

Lipoprotein(a) [Lp(a)] is a lipoprotein formed by the disulfide linkage of apolipoprotein (apo) B100 of a low density lipoprotein particle to apolipoprotein(a). Prior studies have suggested that one of the C-terminal Cys residues of apo-B100 is involved in the disulfide linkage of apo-B100 to apo(a). To identify the apo-B100 Cys residue involved in the formation of Lp(a), we constructed a yeast artificial chromosome (YAC) spanning the human apo-B gene and used gene-targeting techniques to change Cys-4326 to Gly. The mutated YAC DNA was used to generate transgenic mice expressing the mutant human apo-B100 (Cys4326Gly). Unlike the wild-type human apo-B100, the mutant human apo-B100 completely lacked the ability to bind to apo(a) and form Lp(a). This study demonstrates that apo-B100 Cys-4326 is required for the assembly of Lp(a) and shows that gene targeting in YACs, followed by the generation of transgenic mice, is a useful approach for analyzing the structure of large proteins coded for by large genes.

Published
1995

37. A Genome-Wide Association Study of Gout in People of European Ancestry

Author

Merriman, Tony R., Cadzow, Murray, Merriman, Marilyn E., Phipps-Green, Amanda, Topless, Ruth, Abhishek, Abhishek, Mariano Andrés, Bradbury, Linda A., Buchanan, Russell, Cremin, Katie, Guzman, Erika, Zoysa, Janak, Doherty, Michael, Hill, Catherine, Huizinga, Tom W. J., Jansen, Tim, Janssen, M., Joosten, Leo A. B., Kurreeman, Fina, Lester, Susan, Liote, Frederic, Macartney-Coxson, Donia, Matsuo, Hirotaka, Mccarthy, Geraldine M., Mccormick, Sally, Murphy, Rinki, Pavelka, Karel, Perez-Ruiz, Fernando, Puig, Juan, Radstake, Timothy R. D. J., Riches, Philip, Rischmueller, Maureen, Roddy, Edward, Smith, Malcolm, Stahl, Eli A., Stiburkova, Blanka, Stubbs, Richard, Tausche, Anne-Kathrin, Torres, Rosa, Walker, Rob, Yamamoto, Ken, Brown, Matthew A., Choi, Hyon K., Dalbeth, Nicola, Miner, Jeffrey N., So, Alexander, Stamp, Lisa K., and Major, Tanya

Published
2017

38. Parents: Yes You Can!

Author

Planned Parenthood Association of Bucks County, Bristol, PA., McCormick, Sally, and Boyer, Maggi

Abstract

Seminars offered by the Planned Parenthood Association of Bucks County (Pennsylvania) are described as sessions which provide encouragement and support to parents in their efforts to talk with their children about sexuality. The content of the free, four-session seminars is briefly described and a contact for further information is given. The remainder of this short document is a pamphlet which is a parent guide for teaching children about sexuality. (EM)

Published
1981

43. Nonsynonymous SNPs in LPAhomologous to plasminogen deficiency mutants represent novel null apo(a) alleles[S]

Author

Morgan, Benjamin M., Brown, Aimee N., Deo, Nikita, Harrop, Tom W.R., Taiaroa, George, Mace, Peter D., Wilbanks, Sigurd M., Merriman, Tony R., Williams, Michael J.A., and McCormick, Sally P.A.

Abstract

Plasma lipoprotein (a) [Lp(a)] levels are largely determined by variation in the LPAgene, which codes for apo(a). Genome-wide association studies (GWASs) have identified nonsynonymous variants in LPAthat associate with low Lp(a) levels, although their effect on apo(a) function is unknown. We investigated two such variants, R990Q and R1771C, which were present in four null Lp(a) individuals, for structural and functional effects. Sequence alignments showed the R990 and R1771 residues to be highly conserved and homologous to each other and to residues associated with plasminogen deficiency. Structural modeling showed both residues to make several polar contacts with neighboring residues that would be ablated on substitution. Recombinant expression of the WT and R1771C apo(a) in liver and kidney cells showed an abundance of an immature form for both apo(a) proteins. A mature form of apo(a) was only seen with the WT protein. Imaging of the recombinant apo(a) proteins in conjunction with markers of the secretory pathway indicated a poor transit of R1771C into the Golgi. Furthermore, the R1771C mutant displayed a glycosylation pattern consistent with ER, but not Golgi, glycosylation. We conclude that R1771 and the equivalent R990 residue facilitate correct folding of the apo(a) kringle structure and mutations at these positions prevent the proper folding required for full maturation and secretion. To our knowledge, this is the first example of nonsynonymous variants in LPAbeing causative of a null Lp(a) phenotype.

Published
2020
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44. Replication of association of the apolipoprotein A1-C3-A4 gene cluster with the risk of gout

Author

Rasheed, Humaira, Phipps-Green, Amanda J., Topless, Ruth, Smith, Malcolm D., Hill, Catherine, Lester, Susan, Rischmueller, Maureen, Janssen, Matthijs, Jansen, Timothy L., Joosten, Leo A., Radstake, Timothy R., Riches, Philip L., Tausche, Anne Kathrin, Lioté, Frederic, So, Alexander, Van Rij, Andre, Jones, Gregory T., McCormick, Sally P., Harrison, Andrew A., Stamp, Lisa K., Dalbeth, Nicola, Merriman, Tony R., Rasheed, Humaira, Phipps-Green, Amanda J., Topless, Ruth, Smith, Malcolm D., Hill, Catherine, Lester, Susan, Rischmueller, Maureen, Janssen, Matthijs, Jansen, Timothy L., Joosten, Leo A., Radstake, Timothy R., Riches, Philip L., Tausche, Anne Kathrin, Lioté, Frederic, So, Alexander, Van Rij, Andre, Jones, Gregory T., McCormick, Sally P., Harrison, Andrew A., Stamp, Lisa K., Dalbeth, Nicola, and Merriman, Tony R.

Published
2016

45. Replication of association of the apolipoprotein A1-C3-A4 gene cluster with the risk of gout

Author

Translationele immunologie, Infection & Immunity, Rasheed, Humaira, Phipps-Green, Amanda J., Topless, Ruth, Smith, Malcolm D., Hill, Catherine, Lester, Susan, Rischmueller, Maureen, Janssen, Matthijs, Jansen, Timothy L., Joosten, Leo A., Radstake, Timothy R., Riches, Philip L., Tausche, Anne Kathrin, Lioté, Frederic, So, Alexander, Van Rij, Andre, Jones, Gregory T., McCormick, Sally P., Harrison, Andrew A., Stamp, Lisa K., Dalbeth, Nicola, Merriman, Tony R., Translationele immunologie, Infection & Immunity, Rasheed, Humaira, Phipps-Green, Amanda J., Topless, Ruth, Smith, Malcolm D., Hill, Catherine, Lester, Susan, Rischmueller, Maureen, Janssen, Matthijs, Jansen, Timothy L., Joosten, Leo A., Radstake, Timothy R., Riches, Philip L., Tausche, Anne Kathrin, Lioté, Frederic, So, Alexander, Van Rij, Andre, Jones, Gregory T., McCormick, Sally P., Harrison, Andrew A., Stamp, Lisa K., Dalbeth, Nicola, and Merriman, Tony R.

Published
2016

46. Replication of association of the apolipoprotein A1-C3-A4 gene cluster with the risk of gout

Author

Rasheed, Humaira, primary, Phipps-Green, Amanda J., additional, Topless, Ruth, additional, Smith, Malcolm D., additional, Hill, Catherine, additional, Lester, Susan, additional, Rischmueller, Maureen, additional, Janssen, Matthijs, additional, Jansen, Timothy L., additional, Joosten, Leo A., additional, Radstake, Timothy R., additional, Riches, Philip L., additional, Tausche, Anne-Kathrin, additional, Lioté, Frederic, additional, So, Alexander, additional, van Rij, Andre, additional, Jones, Gregory T., additional, McCormick, Sally P., additional, Harrison, Andrew A., additional, Stamp, Lisa K., additional, Dalbeth, Nicola, additional, and Merriman, Tony R., additional

Published
2016
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