Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing

Steve E. Humphries; Treena Cranston; Marcus Allen; Helen Middleton-Price; Maryam C. Fernandez; Victoria Senior; Emma Hawe; Andrew Iversen; Richard Wray; Martin A. Crook; Anthony S. Wierzbicki

doi:10.1007/s00109-005-0019-z

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing

Steve E. Humphries, Treena Cranston, Marcus Allen, Helen Middleton-Price, Maryam C. Fernandez, Victoria Senior, Emma Hawe, Andrew Iversen, Richard Wray, Martin A. Crook, Anthony S. Wierzbicki

Research output: Contribution to journal › Article › peer-review

Abstract

As part of a randomised trial [Genetic Risk Assessment for Familial Hypercholesterolaemia (FH) Trial] of the psychological consequences of DNA-based and non-DNA-based diagnosis of FH, 338 probands with a clinical diagnosis of FH (46% with tendon xanthomas) were recruited. In the DNA-based testing arm (245 probands), using single-strand conformation polymorphism of all exons of the low-density lipoprotein receptor (LDLR) gene, 48 different pathogenic mutations were found in 62 probands (25%), while 7 (2.9%) of the patients had the R3500Q mutation in the apolipoprotein B (APOB) gene. Compared to those with no detected mutation, mean untreated cholesterol levels in those with the APOB mutation were similar, while in those with an LDLR mutation levels were significantly higher (None=9.15±1.62 vs LDLR=9.13±1.16 vs APOB=10.26±2.07 mmol/l p

Original language	English
Pages (from-to)	203-214
Number of pages	11
Journal	Journal of Molecular Medicine
Volume	84
Issue number	3
DOIs	https://doi.org/10.1007/s00109-005-0019-z
Publication status	Published - Mar 2006

Keywords

Cascade testing
GRAFT
Low-density lipoprotein receptor
Molecular genetic diagnosis

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s00109-005-0019-z

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Humphries, S. E., Cranston, T., Allen, M., Middleton-Price, H., Fernandez, M. C., Senior, V., Hawe, E., Iversen, A., Wray, R., Crook, M. A., & Wierzbicki, A. S. (2006). Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing. Journal of Molecular Medicine, 84(3), 203-214. https://doi.org/10.1007/s00109-005-0019-z

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title = "Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing",

abstract = "As part of a randomised trial [Genetic Risk Assessment for Familial Hypercholesterolaemia (FH) Trial] of the psychological consequences of DNA-based and non-DNA-based diagnosis of FH, 338 probands with a clinical diagnosis of FH (46% with tendon xanthomas) were recruited. In the DNA-based testing arm (245 probands), using single-strand conformation polymorphism of all exons of the low-density lipoprotein receptor (LDLR) gene, 48 different pathogenic mutations were found in 62 probands (25%), while 7 (2.9%) of the patients had the R3500Q mutation in the apolipoprotein B (APOB) gene. Compared to those with no detected mutation, mean untreated cholesterol levels in those with the APOB mutation were similar, while in those with an LDLR mutation levels were significantly higher (None=9.15±1.62 vs LDLR=9.13±1.16 vs APOB=10.26±2.07 mmol/l p",

keywords = "Cascade testing, GRAFT, Low-density lipoprotein receptor, Molecular genetic diagnosis",

author = "Humphries, {Steve E.} and Treena Cranston and Marcus Allen and Helen Middleton-Price and Fernandez, {Maryam C.} and Victoria Senior and Emma Hawe and Andrew Iversen and Richard Wray and Crook, {Martin A.} and Wierzbicki, {Anthony S.}",

year = "2006",

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doi = "10.1007/s00109-005-0019-z",

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Humphries, SE, Cranston, T, Allen, M, Middleton-Price, H, Fernandez, MC, Senior, V, Hawe, E, Iversen, A, Wray, R, Crook, MA & Wierzbicki, AS 2006, 'Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing', Journal of Molecular Medicine, vol. 84, no. 3, pp. 203-214. https://doi.org/10.1007/s00109-005-0019-z

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing. / Humphries, Steve E.; Cranston, Treena; Allen, Marcus et al.
In: Journal of Molecular Medicine, Vol. 84, No. 3, 03.2006, p. 203-214.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing

AU - Humphries, Steve E.

AU - Cranston, Treena

AU - Allen, Marcus

AU - Middleton-Price, Helen

AU - Fernandez, Maryam C.

AU - Senior, Victoria

AU - Hawe, Emma

AU - Iversen, Andrew

AU - Wray, Richard

AU - Crook, Martin A.

AU - Wierzbicki, Anthony S.

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N2 - As part of a randomised trial [Genetic Risk Assessment for Familial Hypercholesterolaemia (FH) Trial] of the psychological consequences of DNA-based and non-DNA-based diagnosis of FH, 338 probands with a clinical diagnosis of FH (46% with tendon xanthomas) were recruited. In the DNA-based testing arm (245 probands), using single-strand conformation polymorphism of all exons of the low-density lipoprotein receptor (LDLR) gene, 48 different pathogenic mutations were found in 62 probands (25%), while 7 (2.9%) of the patients had the R3500Q mutation in the apolipoprotein B (APOB) gene. Compared to those with no detected mutation, mean untreated cholesterol levels in those with the APOB mutation were similar, while in those with an LDLR mutation levels were significantly higher (None=9.15±1.62 vs LDLR=9.13±1.16 vs APOB=10.26±2.07 mmol/l p

AB - As part of a randomised trial [Genetic Risk Assessment for Familial Hypercholesterolaemia (FH) Trial] of the psychological consequences of DNA-based and non-DNA-based diagnosis of FH, 338 probands with a clinical diagnosis of FH (46% with tendon xanthomas) were recruited. In the DNA-based testing arm (245 probands), using single-strand conformation polymorphism of all exons of the low-density lipoprotein receptor (LDLR) gene, 48 different pathogenic mutations were found in 62 probands (25%), while 7 (2.9%) of the patients had the R3500Q mutation in the apolipoprotein B (APOB) gene. Compared to those with no detected mutation, mean untreated cholesterol levels in those with the APOB mutation were similar, while in those with an LDLR mutation levels were significantly higher (None=9.15±1.62 vs LDLR=9.13±1.16 vs APOB=10.26±2.07 mmol/l p

KW - Cascade testing

KW - GRAFT

KW - Low-density lipoprotein receptor

KW - Molecular genetic diagnosis

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DO - 10.1007/s00109-005-0019-z

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VL - 84

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JO - Journal of Molecular Medicine

JF - Journal of Molecular Medicine

IS - 3

ER -

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing

Abstract

Keywords

UN SDGs

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