Linkage of serum creatinine and glomerular filtration rate to chromosome 2 in Utah pedigrees. Export

@article{hunt04, abstract = {BACKGROUND: Serum creatinine and creatinine clearance are used as indicators of renal function and may indicate a propensity for development of end-stage renal disease. Identifying genes related to future decreases in renal function could be important in assessing risk and defining abnormal mechanisms amenable to preventive measures. Although creatinine clearance is a better measure of renal function than serum creatinine, proper and complete urine collections in large population studies are sometimes problematic. This can lead to a loss in power to detect linkage. Therefore, in this study we also investigated serum creatinine and estimated glomerular filtration rates (GFR), both of which are more reliably measured. METHODS: Linkage was tested in a genome scan using 49 large Utah pedigrees examined three times over 10 years to detect regions harboring genes related to reduced renal function. RESULTS: Heritability of serum creatinine ranged from 25\% to 31\% across three examinations, and heritability of GFR ranged from 37\% to 42\%. The highest log of the odds (LOD) score for serum creatinine was found on chromosome 2 at 145 cM on the Marshfield map (D2S1334). Consistent nonparametric linkage for serum creatinine was found for all three examinations (LOD = 3.15, 2.75, and 2.00, respectively). Estimates of GFR also showed linkage to this region. CONCLUSIONS: The consistency of linkage to chromosome 2 over longitudinally repeated measurements increases the likelihood that this region harbors a gene influencing phenotypic variation in serum creatinine and GFR. Identification of this gene could help to predict which individuals are most likely to progress to renal disease.}, author = {Hunt, Steven C. and Coon, Hilary and Hasstedt, Sandra J. and Cawthon, Richard M. and Camp, Nicola J. and Wu, Lily L. and Hopkins, Paul N.}, citeulike-article-id = {1437277}, citeulike-linkout-0 = {http://dx.doi.org/10.1016/j.amjhyper.2004.02.019}, doi = {10.1016/j.amjhyper.2004.02.019}, journal = {Am J Hypertens}, keywords = {accident, adult, aged, cerebrovascular, chromosomes, combinedbib, comparative, coronary, creatinine, disease, family, female, filtration, genetic, genetics, glomerular, govt, health, human, humans, hypertension, linkage, lod, male, markers, middle, pair, pedigree, phs, predisposition, rate, research, score, study, support, to, us, utah}, month = {Jun}, number = {6}, pages = {511--5}, pdf = {papers/ibdscore/renal/hunt04.pdf}, posted-at = {2007-07-05 14:55:10}, priority = {2}, title = {Linkage of serum creatinine and glomerular filtration rate to chromosome 2 in {U}tah pedigrees.}, url = {10.1016/j.amjhyper.2004.02.019}, volume = {17}, year = {2004} }

TY - JOUR ID - hunt04 L3 - citeulike-article-id:1437277 N2 - BACKGROUND: Serum creatinine and creatinine clearance are used as indicators of renal function and may indicate a propensity for development of end-stage renal disease. Identifying genes related to future decreases in renal function could be important in assessing risk and defining abnormal mechanisms amenable to preventive measures. Although creatinine clearance is a better measure of renal function than serum creatinine, proper and complete urine collections in large population studies are sometimes problematic. This can lead to a loss in power to detect linkage. Therefore, in this study we also investigated serum creatinine and estimated glomerular filtration rates (GFR), both of which are more reliably measured. METHODS: Linkage was tested in a genome scan using 49 large Utah pedigrees examined three times over 10 years to detect regions harboring genes related to reduced renal function. RESULTS: Heritability of serum creatinine ranged from 25\% to 31\% across three examinations, and heritability of GFR ranged from 37\% to 42\%. The highest log of the odds (LOD) score for serum creatinine was found on chromosome 2 at 145 cM on the Marshfield map (D2S1334). Consistent nonparametric linkage for serum creatinine was found for all three examinations (LOD = 3.15, 2.75, and 2.00, respectively). Estimates of GFR also showed linkage to this region. CONCLUSIONS: The consistency of linkage to chromosome 2 over longitudinally repeated measurements increases the likelihood that this region harbors a gene influencing phenotypic variation in serum creatinine and GFR. Identification of this gene could help to predict which individuals are most likely to progress to renal disease. IS - 6 JF - Am J Hypertens EP - 5 TI - Linkage of serum creatinine and glomerular filtration rate to chromosome 2 in {U}tah pedigrees. VL - 17 SP - 511 KW - accident KW - adult KW - aged KW - cerebrovascular KW - chromosomes KW - combinedbib KW - comparative KW - coronary KW - creatinine KW - disease KW - family KW - female KW - filtration KW - genetic KW - genetics KW - glomerular KW - govt KW - health KW - human KW - humans KW - hypertension KW - linkage KW - lod KW - male KW - markers KW - middle KW - pair KW - pedigree KW - phs KW - predisposition KW - rate KW - research KW - score KW - study KW - support KW - to KW - us KW - utah AU - Hunt, Steven AU - Coon, Hilary AU - Hasstedt, Sandra AU - Cawthon, Richard AU - Camp, Nicola AU - Wu, Lily AU - Hopkins, Paul PY - 2004/Jun// UR - http://dx.doi.org/10.1016/j.amjhyper.2004.02.019 ER -