Eva Bajnok

Semmelweis University, Budapest, Budapest fovaros, Hungary

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Publications (10)24.17 Total impact

  • Zeitschrift Fur Gastroenterologie - Z GASTROENTEROL. 01/2005; 43(05).
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    ABSTRACT: Genetic factors have been implicated in the pathogenesis of osteoporosis, a common disorder in primary biliary cirrhosis. Insulin-like growth factor I (IGF-I) gene microsatellite repeat polymorphism was found to be associated with osteoporosis in some studies, and collagen-Ialpha1 (COLIA1) Sp1 s allele was associated with lower bone mineral density in primary biliary cirrhosis. IGF-I treatment restored osteopenia and reduced fibrogenesis in experimental cirrhosis. We investigated IGF-I and COLIA1 gene polymorphisms and bone mineral density in Hungarian primary biliary cirrhosis patients. Seventy female patients with primary biliary cirrhosis were enrolled (mean age 57.6 years, range 37-76 years; all anti-mitochondrial antibody M2-positive; stage II-IV). One hundred and thirty-nine age-matched female subjects served as controls (mean age 55.9 years, range 43-72 years). COLIA1 and IGF-I polymorphisms were determined by polymerase chain reaction. Bone mineral density was measured by dual-energy X-ray absorptiometry in the lumbar spine and femoral neck. The IGF-I was not different between primary biliary cirrhosis patients and controls. The genotype frequency of COLIA1 polymorphism was also not different between primary biliary cirrhosis patients and controls. However, the s allele was significantly less frequent in patients with primary biliary cirrhosis. Osteoporosis was detected in 22 patients. The IGF-I 192/192 genotype was associated with higher femoral-neck z-scores compared with other genotypes. In contrast to previous studies, the s allele was less frequent in patients with primary biliary cirrhosis, and its presence was not associated with bone mineral density. Since IGF-I polymorphism was associated with bone mineral density, it may be hypothesised that not COLIA1 but IGF-I together with other genetic and environmental factors may be involved in the complex regulation of bone mineral density in primary biliary cirrhosis.
    European Journal of Gastroenterology & Hepatology 09/2004; 16(8):753-9. · 1.92 Impact Factor
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    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 I alpha 1 (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. 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). 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-I 192/192 allele was associated with higher FN Z-score compared to other genotypes (p = 0.036). 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.
    Orvosi Hetilap 03/2004; 145(7):331-6.
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    ABSTRACT: We report two Hungarian patients with familial hypocalciuric hypercalcemia (FHH) caused by a mutation of the calcium-sensing receptor (CaSR) at codon 55. The proband and her father were heterozygous for this mutation. We performed detailed clinical and laboratory assessments of this family to characterize the effects of CaSR mutation on several endocrine organs expressing CaSR. Interestingly, we could not detect any failure in the function of any tissues we examined, except in serum calcium levels. To our knowledge, this has been the first report from Eastern and Central Europe showing P55 L mutation of the CaSR, as well as the first publication discussing the effect of this mutation on several endocrine systems containing CASR.
    Experimental and Clinical Endocrinology & Diabetes 01/2004; 111(8):486-90. · 1.56 Impact Factor
  • European Journal of Gastroenterology & Hepatology - EUR J GASTROENTEROL HEPATOL. 01/2004; 16(8):753-759.
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    ABSTRACT: Osteoprotegerin is decoy receptor for osteoclast activating factor, RANKL, and impairs osteoclast funtion. Since osteoporosis is common in primary biliary cirrhosis (PBC), we investigated osteoprotegerin, RANKL and markers of bone turnover in PBC. Serum osteoprotegerin, RANKL, osteocalcin (OC) and C-terminal cross-linking telopeptide of type I collagen (CTX-I) were measured by ELISA in 41 patients with PBC, 16 women with chronic hepatitis C (CHC), and as controls in 44 age-matched healthy and 74 post-menopausal osteopenic otherwise healthy women. Serum osteoprotegerin levels were higher in PBC patients (7.8+/-3.0 pmol/l) than in healthy controls (4.4+/-2.3 pmol/l) and osteopenic women (4.0+/-1.0 pmol/l, P<0.0001 for both). RANKL levels were lower in PBC (0.9+/-1.8 pmol/l, P<0.0001) than in healthy controls (1.3+/-0.5 pmol/l). In CHC both osteoprotegerin (9.7+/-4.2 pmol/l) and RANKL (3.2+/-4.7 pmol/l) were elevated compared to the control groups (P<0.0001, for both). There was a positive correlation between serum osteoprotegerin and OC, CTX-I and AST but not with bone mineral density in PBC. The mechanisms and role of elevated osteoprotegerin and low RANKL in PBC are unclear, but it might partly represent a compensatory mechanism to negative balance of bone remodeling. High OPG and RANKL levels found in CHC might suggest that inflammatory process in the liver could also contribute to the elevation of osteoprotegerin.
    Journal of Hepatology 04/2003; 38(4):395-400. · 9.86 Impact Factor
  • Journal of Hepatology - J HEPATOL. 01/2003; 38:212-213.
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    ABSTRACT: Calcium-sensing receptor (CaSR) is an attractive candidate gene for osteoporosis susceptibility. The CaSR "A986S" genotype has been shown to have an effect on serum calcium. Recently, an association has been reported between the CaSR gene A986S polymorphism and bone mineral density in healthy white girls. In this study, we examined whether CaSR gene A986S polymorphism is associated with decreased bone mass in 230 Hungarian postmenopausal women. From this cohort, 108 osteoporotic patients were compared with 122 healthy control women. Bone mineral density (BMD) was measured at the lumbar spine (L2-4) and femoral neck using dual-energy X-ray absorptiometry. Allele-specific polymerase chain reaction was used to amplify A986S polymorphisms of the CaSR gene. We found no difference in the distribution of different alleles or genotypes between groups (p = 0.762). No significant effect of CaSR genotype on BMD was observed either in the whole population or in the subgroups. Our data do not support the idea that CaSR gene A986S polymorphism has an impact on bone mass.
    Bone 07/2002; 30(6):849-52. · 4.46 Impact Factor
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    ABSTRACT: Genetic factors have been implicated in the pathogenesis of osteoporosis, a common disorder in primary biliary cirrhosis. Oestrogen receptor-alpha gene, vitamin D receptor gene and interleukin-1 receptor antagonist gene are all attractive candidates for osteoporosis susceptibility. We investigated the polymorphisms of the above genes and bone disease in Hungarian patients with primary biliary cirrhosis. Thirty-three female patients with primary biliary cirrhosis were enrolled (age range, 39-72 years; anti-mitochondrial antibody M2 positive, stage II-IV). Eighty-four healthy and 76 osteoporotic age matched female subjects served as controls. Vitamin D receptor BsmI, interleukin-1 receptor antagonist gene variable- number tandem repeat and oestrogen receptor-alpha PvuII and XbaI polymorphisms were determined. Bone mineral density was measured by dual energy X-ray absorptiometry (XR26, Norland) in lumbar spine and femoral neck. The genotype frequency of vitamin D receptor BsmI (BB, 57.5%; Bb, 33.3%; bb, 9.1%) and oestrogen receptor-alpha PvuII (PP, 18.2%; Pp, 75.6%; pp, 6.2%) and XbaI (XX, 9.1%; Xx, 90.9%; xx, 0%) of the primary biliary cirrhosis patients was different from that of the healthy and osteoporotic control groups (P < 0.03 for each). Osteoporosis (t score < -2.5) was present in 42.4% of the patients. Osteoporotic primary biliary cirrhosis patients were older and had a longer disease history (P = 0.01 for both). No association was found between the polymorphisms and bone mineral density values at either position. We confirmed previous findings concerning the higher frequency of vitamin D receptor BsmI BB genotype in patients with primary biliary cirrhosis. The oestrogen receptor-alpha PvuII and XbaI Pp and Xx genotypes were more frequent in primary biliary cirrhosis patients, while interleukin-1 receptor antagonist gene variable-number tandem repeat polymorphism was not different. Since none of the polymorphisms was associated with bone mineral density, it is unlikely that these polymorphisms are essential in predicting bone mineral density in primary biliary cirrhosis.
    European Journal of Gastroenterology & Hepatology 07/2002; 14(7):733-40. · 1.92 Impact Factor
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    ABSTRACT: The major determinant for risk of osteoporosis in later life is bone mineral density (BMD) attained during early adulthood. Bone mineral density is a complex trait that is presumably influenced by multiple genes. Interleukin-1 receptor antagonist protein (IL-1RN) is an attractive candidate gene for osteoporosis susceptibility, because IL-1RN completely inhibits the stimulatory effects of interleukin-1 (IL-1) on bone resorption in organ cultures and has been implicated in the pathogenesis of osteoporosis. In addition, the IL-1RN gene contains a variable-number tandem repeat polymorphism (VNTR) in intron 2 with three potential protein-binding sites. Recently, an association has been found between this polymorphism and postmenopausal bone loss in the spine. In this study, we use the previously described IL-1RN polymorphism to test for an association between this polymorphism and bone mineral density in our population of postmenopausal women. There was no correlation between alleles or genotypes and BMD in the 286 subjects. Dividing subjects into osteoporotic and healthy groups (osteoporotics and controls), we found no difference in the distribution of alleles or genotypes between groups. We found no association between IL-1RN alleles or genotypes and BMD either at the lumbar spine or the femoral neck within groups. Our data do not support the hypothesis that this IL-1RN gene VNTR polymorphism has an impact on bone mass in postmenopausal women.
    Bone 11/2000; 27(4):559-62. · 4.46 Impact Factor