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The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.

https://arctichealth.org/en/permalink/ahliterature206213
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Publication Type
Article
Date
Mar-1998
Author
P. Scott
D. Ouimet
Y. Proulx
M L Trouvé
G. Guay
B. Gagnon
L. Valiquette
A. Bonnardeaux
Author Affiliation
Service de Néphrologie, Hôpital Maisonneuve-Rosemont, Montreal, Quebec, Canada.
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Date
Mar-1998
Language
English
Publication Type
Article
Keywords
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics - metabolism
Adult
Calcium - urine
Canada
European Continental Ancestry Group - genetics
Family Health
Female
France - ethnology
Genetic Linkage
Genetic Markers - genetics
Humans
Kidney Calculi - enzymology - genetics
Male
Middle Aged
Nuclear Family
Pedigree
Phenotype
Vitamin D - blood
Abstract
Calcium urolithiasis is often associated with increased intestinal absorption and urine excretion of calcium, and has been suggested to result from increased vitamin D production. The role of the enzyme 1 alpha-hydroxylase, the rate-limiting step in active vitamin D production, was evaluated in 36 families, including 28 sibships with at least a pair of affected sibs, using qualitative and quantitative trait linkage analyses. Sibs with a verified calcium urolithiasis passage (n = 117) had higher 24-h calciuria (P = 0.03), oxaluria (P = 0.02), fasting and postcalcium loading urine calcium/creatinine (Ca/cr) ratios (P = 0.008 and P = 0.002, respectively), and serum 1,25(OH)2 vitamin D levels (P = 0.02) compared with nonstone-forming sibs (n = 120). Markers from a 9-centiMorgan interval encompassing the VDD1 locus on chromosome 12q13-14 (putative 1 alpha-hydroxylase) were analyzed in 28 sibships (146 sib pairs) of single and recurrent stone formers and in 14 sibships (65 sib pairs) with recurrent-only (> or = 3 episodes) stone-forming sibs. Two-point and multipoint analyses did not reveal excess in alleles shared among affected sibs at the VDD1 locus. Linkage of stone formation to the VDD1 locus could be excluded, respectively, with a lambda d of 2.0 (single and recurrent stone formers) and 3.25 (recurrent stone formers). Quantitative trait analyses revealed no evidence for linkage to 24-h calciuria and oxaluria, serum 1,25(OH)2 vitamin D levels, and Ca/cr ratios. This study shows absence of linkage of the putative 1 alpha-hydroxylase locus to calcium stone formation or to quantitative traits associated with idiopathic hypercalciuria. In addition, there is coaggregation of calciuric and oxaluric phenotypes with stone formation.
PubMed ID
9513904 View in PubMed
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A family-based study of metabolic phenotypes in calcium urolithiasis.

https://arctichealth.org/en/permalink/ahliterature193391
Source
Kidney Int. 2001 Sep;60(3):1141-7
Publication Type
Article
Date
Sep-2001
Author
J. Tessier
M. Petrucci
M L Trouvé
L. Valiquette
G. Guay
D. Ouimet
A. Bonnardeaux
Author Affiliation
Centre de Recherche Guy Bernier, Hôpital Maisonneuve-Rosemont, Montréal, Québec, Canada.
Source
Kidney Int. 2001 Sep;60(3):1141-7
Date
Sep-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Calcium - blood - metabolism - urine
Canada
Family
France - ethnology
Humans
Magnesium - blood
Middle Aged
Nuclear Family
Phenotype
Phosphates - blood
Questionnaires
Urinary Calculi - blood - genetics - urine
Abstract
A family history increases the risk of kidney stone passage independent of dietary risk factors. However, the metabolic basis for familial aggregation of urolithiasis is unknown.
We evaluated metabolic risk factors in families with at least two sibs with a history of calcium stones. Sibs underwent outpatient evaluations simultaneously, including 24-hour urine collection and oral calcium loading. Phenotypes were compared between affected and unaffected sibs from the same sibship.
Eighty-three sibships comprising 388 sibs (212 affected sibs, 114 males and 98 females, and 176 unaffected sibs, 68 males and 108 females) from 71 families were analyzed. Daily urine calcium excretion was higher in affected compared with unaffected sibs (0.64 +/- 0.33 vs. 0.50 +/- 0.22 mmol Ca(2+)/mmol creatinine, respectively, P
PubMed ID
11532110 View in PubMed
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