Csökkent csontásványianyag-tartalom és génpolimorfizmus primer biliaris cirrhosisban

Translated title of the contribution: Decreased bone mineral density, insulin-like growth factor I (IGF-I) gene microsatellite repeat and collagen type /α1 Sp1 polymorphism in primary biliary cirrhosis

P. Lakatos, Éva Bajnok, István Tornai, Anikó Folhoffer, Andrea Horváth, P. Lakatos, F. Szalay

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Genetic factors have been implicated in the pathogenesis of osteoporosis, which is a common disorder in primary biliary cirrhosis (PBC). Insulin-like growth factor I (IGF-I) gene microsatellite repeat polymorphism was found to be associated with osteoporosis in some studies and collagen type Iα1 (COLIA1) Sp1 "s" allele was associated with lower bone mineral density (BMD) in PBC. IGF-I treatment restored osteopenia and reduced fibrogenesis in experimental cirrhosis. We investigated IGF-I and COLIA1 gene polymorphisms and BMD in Hungarian PBC patients. Patients and methods: 70 female patients with PBC were enrolled (mean age: 57.6 yrs, range: 37-76 yrs, each AMA M2 positive, stage II-IV). 139 age-matched female subjects served as controls (mean age: 55.9 yrs, range: 43-72 yrs). COLIA1 and IGF-I microsatellite repeat polymorphisms were determined by PCR. Bone mineral density (BMD) was measured by dual energy x-ray absorptiometry (Lunar, Prodigy, WI, USA) in lumbar spine (LS) and femoral neck (FN). Results: The IGF-I polymorphism was not different between PBC patients (192/192 = 34.2%, 194/192 = 28.6%, other = 37.2%) and controls (192/192 = 38.2%, 194/192 = 30.9%, other = 30.9%). The genotype frequency of COLIA1 polymorphism was also not different between PBC patients (SS = 72.9%, Ss = 22.8% and ss = 4.3%) and controls (SS = 58.4%, Ss = 35.9% and ss = 5.7%), however the "s" allele was significantly less frequent in patients with PBC (p = 0.038). Osteoporosis was present in 22 patients (31.4%). The IGF-1 192/192 allele was associated with higher FN Z-score compared to other genotypes (p = 0.036). Conclusions: In contrast to previous studies the "s" allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC.

Original languageHungarian
Pages (from-to)331-336
Number of pages6
JournalOrvosi Hetilap
Volume145
Issue number7
Publication statusPublished - Feb 2004

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Biliary Liver Cirrhosis
Collagen Type I
Insulin-Like Growth Factor I
Microsatellite Repeats
Bone Density
Genes
Alleles
Osteoporosis
Femur Neck
Genotype
Metabolic Bone Diseases
Spine
Fibrosis
Collagen
X-Rays
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Csökkent csontásványianyag-tartalom és génpolimorfizmus primer biliaris cirrhosisban. / Lakatos, P.; Bajnok, Éva; Tornai, István; Folhoffer, Anikó; Horváth, Andrea; Lakatos, P.; Szalay, F.

In: Orvosi Hetilap, Vol. 145, No. 7, 02.2004, p. 331-336.

Research output: Contribution to journalArticle

Lakatos, P, Bajnok, É, Tornai, I, Folhoffer, A, Horváth, A, Lakatos, P & Szalay, F 2004, 'Csökkent csontásványianyag-tartalom és génpolimorfizmus primer biliaris cirrhosisban', Orvosi Hetilap, vol. 145, no. 7, pp. 331-336.
Lakatos P, Bajnok É, Tornai I, Folhoffer A, Horváth A, Lakatos P et al. Csökkent csontásványianyag-tartalom és génpolimorfizmus primer biliaris cirrhosisban. Orvosi Hetilap. 2004 Feb;145(7):331-336.
Lakatos, P. ; Bajnok, Éva ; Tornai, István ; Folhoffer, Anikó ; Horváth, Andrea ; Lakatos, P. ; Szalay, F. / Csökkent csontásványianyag-tartalom és génpolimorfizmus primer biliaris cirrhosisban. In: Orvosi Hetilap. 2004 ; Vol. 145, No. 7. pp. 331-336.
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title = "Cs{\"o}kkent csont{\'a}sv{\'a}nyianyag-tartalom {\'e}s g{\'e}npolimorfizmus primer biliaris cirrhosisban",
abstract = "Genetic factors have been implicated in the pathogenesis of osteoporosis, which is a common disorder in primary biliary cirrhosis (PBC). Insulin-like growth factor I (IGF-I) gene microsatellite repeat polymorphism was found to be associated with osteoporosis in some studies and collagen type Iα1 (COLIA1) Sp1 {"}s{"} allele was associated with lower bone mineral density (BMD) in PBC. IGF-I treatment restored osteopenia and reduced fibrogenesis in experimental cirrhosis. We investigated IGF-I and COLIA1 gene polymorphisms and BMD in Hungarian PBC patients. Patients and methods: 70 female patients with PBC were enrolled (mean age: 57.6 yrs, range: 37-76 yrs, each AMA M2 positive, stage II-IV). 139 age-matched female subjects served as controls (mean age: 55.9 yrs, range: 43-72 yrs). COLIA1 and IGF-I microsatellite repeat polymorphisms were determined by PCR. Bone mineral density (BMD) was measured by dual energy x-ray absorptiometry (Lunar, Prodigy, WI, USA) in lumbar spine (LS) and femoral neck (FN). Results: The IGF-I polymorphism was not different between PBC patients (192/192 = 34.2{\%}, 194/192 = 28.6{\%}, other = 37.2{\%}) and controls (192/192 = 38.2{\%}, 194/192 = 30.9{\%}, other = 30.9{\%}). The genotype frequency of COLIA1 polymorphism was also not different between PBC patients (SS = 72.9{\%}, Ss = 22.8{\%} and ss = 4.3{\%}) and controls (SS = 58.4{\%}, Ss = 35.9{\%} and ss = 5.7{\%}), however the {"}s{"} allele was significantly less frequent in patients with PBC (p = 0.038). Osteoporosis was present in 22 patients (31.4{\%}). The IGF-1 192/192 allele was associated with higher FN Z-score compared to other genotypes (p = 0.036). Conclusions: In contrast to previous studies the {"}s{"} allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC.",
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T1 - Csökkent csontásványianyag-tartalom és génpolimorfizmus primer biliaris cirrhosisban

AU - Lakatos, P.

AU - Bajnok, Éva

AU - Tornai, István

AU - Folhoffer, Anikó

AU - Horváth, Andrea

AU - Lakatos, P.

AU - Szalay, F.

PY - 2004/2

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N2 - Genetic factors have been implicated in the pathogenesis of osteoporosis, which is a common disorder in primary biliary cirrhosis (PBC). Insulin-like growth factor I (IGF-I) gene microsatellite repeat polymorphism was found to be associated with osteoporosis in some studies and collagen type Iα1 (COLIA1) Sp1 "s" allele was associated with lower bone mineral density (BMD) in PBC. IGF-I treatment restored osteopenia and reduced fibrogenesis in experimental cirrhosis. We investigated IGF-I and COLIA1 gene polymorphisms and BMD in Hungarian PBC patients. Patients and methods: 70 female patients with PBC were enrolled (mean age: 57.6 yrs, range: 37-76 yrs, each AMA M2 positive, stage II-IV). 139 age-matched female subjects served as controls (mean age: 55.9 yrs, range: 43-72 yrs). COLIA1 and IGF-I microsatellite repeat polymorphisms were determined by PCR. Bone mineral density (BMD) was measured by dual energy x-ray absorptiometry (Lunar, Prodigy, WI, USA) in lumbar spine (LS) and femoral neck (FN). Results: The IGF-I polymorphism was not different between PBC patients (192/192 = 34.2%, 194/192 = 28.6%, other = 37.2%) and controls (192/192 = 38.2%, 194/192 = 30.9%, other = 30.9%). The genotype frequency of COLIA1 polymorphism was also not different between PBC patients (SS = 72.9%, Ss = 22.8% and ss = 4.3%) and controls (SS = 58.4%, Ss = 35.9% and ss = 5.7%), however the "s" allele was significantly less frequent in patients with PBC (p = 0.038). Osteoporosis was present in 22 patients (31.4%). The IGF-1 192/192 allele was associated with higher FN Z-score compared to other genotypes (p = 0.036). Conclusions: In contrast to previous studies the "s" allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC.

AB - Genetic factors have been implicated in the pathogenesis of osteoporosis, which is a common disorder in primary biliary cirrhosis (PBC). Insulin-like growth factor I (IGF-I) gene microsatellite repeat polymorphism was found to be associated with osteoporosis in some studies and collagen type Iα1 (COLIA1) Sp1 "s" allele was associated with lower bone mineral density (BMD) in PBC. IGF-I treatment restored osteopenia and reduced fibrogenesis in experimental cirrhosis. We investigated IGF-I and COLIA1 gene polymorphisms and BMD in Hungarian PBC patients. Patients and methods: 70 female patients with PBC were enrolled (mean age: 57.6 yrs, range: 37-76 yrs, each AMA M2 positive, stage II-IV). 139 age-matched female subjects served as controls (mean age: 55.9 yrs, range: 43-72 yrs). COLIA1 and IGF-I microsatellite repeat polymorphisms were determined by PCR. Bone mineral density (BMD) was measured by dual energy x-ray absorptiometry (Lunar, Prodigy, WI, USA) in lumbar spine (LS) and femoral neck (FN). Results: The IGF-I polymorphism was not different between PBC patients (192/192 = 34.2%, 194/192 = 28.6%, other = 37.2%) and controls (192/192 = 38.2%, 194/192 = 30.9%, other = 30.9%). The genotype frequency of COLIA1 polymorphism was also not different between PBC patients (SS = 72.9%, Ss = 22.8% and ss = 4.3%) and controls (SS = 58.4%, Ss = 35.9% and ss = 5.7%), however the "s" allele was significantly less frequent in patients with PBC (p = 0.038). Osteoporosis was present in 22 patients (31.4%). The IGF-1 192/192 allele was associated with higher FN Z-score compared to other genotypes (p = 0.036). Conclusions: In contrast to previous studies the "s" allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC.

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