Utah Population Database: a tool to study the hereditary element of nonsyndromic neurosurgical diseases

Niazi, Toba; Cannon‐Albright, Lisa A.; Couldwell, William T.

doi:10.3171/2009.10.focus09214

Cited by 6 publications

(2 citation statements)

References 16 publications

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“…2,3,[38][39][40] It certainly helped to do so in the SLSJ population, where some rare inherited disorders have been previously described. 1,20,36,41 The main objective of the present study was to determine whether the genealogical characteristics of individuals affected by intolerance to statins were different from those of unaffected individuals using two FH mutations as models.…”

Section: Discussionmentioning

confidence: 99%

Genealogical analysis as a new approach for the investigation of drug intolerance heritability

et al. 2013

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Genealogical analysis has proven a useful method to understand the origins and frequencies of hereditary diseases in many populations. However, this type of analysis has not yet been used for the investigation of drug intolerance among patients suffering from inherited disorders. This study aims to do so, using data from familial hypercholesterolemia (FH) patients receiving high doses of statins. The objective is to measure and compare various genealogical parameters that could shed light on the origins and heritability of muscular intolerance to statins using FH as a model. Analysis was performed on 224 genealogies from 112 FH subjects carrying either the low-density lipoprotein receptor (LDLR) prom_e1 deletion415 kb (n ¼ 28) or c.259T4G (p.Trp87Gly) (n ¼ 84) mutations and 112 non-FH controls. Number of ancestors, geographical origins and genetic contribution of founders, inbreeding and kinship coefficients were calculated using the S-Plus-based GENLIB software package. For both mutations, repeated occurrences of the same ancestors are more frequent among the carriers' genealogies than among the controls', but no difference was observed between tolerant and intolerant subjects. Founders who may have introduced both mutations in the population appear with approximately the same frequencies in all genealogies. Kinship coefficients are higher among carriers, with no difference according to statins tolerance. Inbreeding coefficients are slightly lower among 415-kb deletion carriers than among c.259 T4G carriers, but the differences between tolerants and intolerants are not significant. These findings suggest that although muscular intolerance to statins shows a family aggregation, it is not transmitted through the same Mendelian pattern as LDLR mutations.

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Section: Discussionmentioning

confidence: 99%

Genealogical analysis as a new approach for the investigation of drug intolerance heritability

et al. 2013

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“…11,14 The genealogical records in the UPDB are recordlinked to data from the Surveillance, Epidemiology, and End Results (SEER) UCR, which have been collected statewide since 1966, and follow-up rates exceed 95%. All independent malignant primary cancers occurring in the state are required by law to be reported to the UCR, with data including primary site, histology, age at diagnosis, stage, grade, survival, treatment, and follow-up; 15 these data are record-linked to the UPDB genealogy data annually. Data on benign tumors have been reportable by law since 2004.…”

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confidence: 99%

Co-prevalence of other tumors in patients harboring pituitary tumors

Couldwell¹,

Cannon‐Albright

2014

JNS

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The prevalence of Type 2 Diabetes Mellitus in the United Arab Emirates: justification for the establishment of the Emirates Family Registry

Alsafar

Jama-Alol

Hassoun

et al. 2012

Int J Diabetes Dev Ctries

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Utah Population Database: a tool to study the hereditary element of nonsyndromic neurosurgical diseases

Abstract: Abbreviations used in this paper: RR = relative risk; GIF = genealogical index of familiality; UCR = Utah Cancer Registry; UPDB = Utah Population Database.

Cited by 6 publications

References 16 publications

Genealogical analysis as a new approach for the investigation of drug intolerance heritability

Genealogical analysis as a new approach for the investigation of drug intolerance heritability

Co-prevalence of other tumors in patients harboring pituitary tumors

The prevalence of Type 2 Diabetes Mellitus in the United Arab Emirates: justification for the establishment of the Emirates Family Registry

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