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001-es BibID:	BIBFORM007067
Első szerző:	Kapitány Anikó (molekuláris biológus)
Cím:	Association of rheumatoid arthritis with HLA-DR1 and HLA-DR4 in Hungary / Kapitany, A., Zilahi, E., Szanto, S., Szucs, G., Szabo, Z., Vegvari, A., Rass, P., Sipka, S., Szegedi, G., Szekanecz, Z.
Dátum:	2005
ISSN:	0077-8923 (Print)
Megjegyzések:	Susceptibility to and outcome for rheumatoid arthritis (RA) have been associated with particular HLA-DR alleles, but these alleles vary among ethnic groups and geographic areas. The frequency of HLA-DR1 (HLA-DRB10101, DRB10102) and HLA-DR4 (DRB10401, DRB10404) alleles is elevated among Caucasian patients with RA. We studied a northeastern Hungarian population of RA patients to determine the frequency of HLA-DR1 and HLA-DR4 phenotypes in this population and to compare it with healthy control subjects, as well as to investigate whether the presence of these alleles could be a marker for RA. We performed HLA-DRB1 genotyping (DRB101-DRB116) in 83 RA patients and 55 healthy controls using polymerase chain reaction with sequence-specific primers (PCR-SSP). In the case of HLA-DR1- or HLA-DR4-positive patients, the DR1 and DR4 subtypes were also determined. The frequency of HLA-DR4 alleles was significantly higher in RA patients than in controls (31.3 vs. 10.9%; P <.05). HLA-DR1, in particular, tended to be more frequent in patients than in controls (32.5 vs. 18.1%). Among the HLA-DR4 subtypes, DRB10401 and DRB10404 were the most common alleles found in both groups. However, no significant differences were seen in the frequency of HLA-DRB10401 and HLA-DRB10404 between RA patients and controls. In contrast, HLA-DRB10405 and HLA-DRB10408 were significantly more common in RA patients than in control subjects. Among HLA-DR1 subtypes, the DRB10101 allele was most commonly detected, but HLA-DRB10101 as well as DRB10102 and DRB10105 were similarly frequent in RA patients and controls. HLA-DR12 was more common among controls than in RA patients (18.1 vs. 0%; P <.05). Our results generally agree with the findings in other Caucasian populations. Nonetheless, we found differences in the frequency of HLA-DR1 and HLA-DR4 subtypes among Hungarian patients compared with reports from other geographic regions (e.g., Finland and Asia). Our data suggest that in northeastern Hungary, HLA-DR4 as well as its subtypes DRB10405 and DRB10408 may be involved in susceptibility to RA, but HLA-DR1 may not. In addition, the presence of HLA-DR12, at least in Hungary, may protect from this disease.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Adolescent Adult Aged Aged, 80 and over Alleles Arthritis, Rheumatoid Female HLA-DR Antigens HLA-DR1 Antigen Humans Male Middle Aged
Megjelenés:	Annals of the New York Academy of Sciences. - 1051 (2005), p. 263-270. -
További szerzők:	Zilahi Erika (1964-) (molekuláris biológus) Szántó Sándor (1968-) (belgyógyász, reumatológus) Szűcs Gabriella (1963-) (belgyógyász, allergológus és klinikai immunológus, reumatológus) Szabó Zoltán (1970-) (belgyógyász, reumatológus) Végvári Anikó (belgyógyász, III. sz. Belgyógyászati Klinika) Rass Péter Sipka Sándor (1945-) (laboratóriumi szakorvos) Szegedi Gyula (1936-2013) (belgyógyász, immunológus) Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus)
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001-es BibID:	BIBFORM040276
Első szerző:	Siddig, Awatif
Cím:	HER-2/neu Ile655Val polymorphism and the risk of breast cancer / Siddig A., Mohamed A. O., Kamal H., Awad S., Hassan A. H., Zilahi E., Al-Haj M., Bernsen R., Adem A.
Dátum:	2008
Megjegyzések:	Genetic alterations of the proto-oncogene human epidermal growth factor receptor (HER-2/neu) have been shown to induce malignant transformation and metastasis. Genotyping studies have addressed the association of codon 655 isoleucine to valine polymorphism located in the transmembrane coding region and the risk of breast cancer, but the results are inconsistent. In this study, we investigated the association of HER-2/neu Ile655Val polymorphism and the risk of breast cancer in a Sudanese population. In addition, the joint effects of HER-2/neu variants and our previously reported ESR1C325G polymorphism were tested for their association with breast cancer risk. Candidate single nucleotide polymorphism (SNP) in HER-2/neu Ile655Val [db SNP rs1136200] was genotyped in breast cancer patients and in healthy controls that were randomly selected from the same age group as the patients. Genotyping was performed using a high-throughput allelic discrimination method using real-time PCR, and data on clinical features and demographic details were collected. Associations between genotype and breast cancer were assessed by means of logistic regression. The prevalence of Val/Val genotype was similar in patients of breast cancer and control subjects. In comparison with the Ile/Ile genotype, the Ile/Val had a borderline significantly (P= 0.06) higher risk of breast cancer (OR = 2.95, 95% CI: 0.97-8.96). Regarding the genotypic and allelic frequencies stratified by age and menopausal status, there were no significant associations. A significantly higher risk of breast cancer was observed among homozygous carriers of ESR1325 CC genotype and heterozygous carriers of HER-2/neu655 Ile/Val genotype (P= 0.05; adjusted OR = 4.9, 95% CI: 1.0-24). The association of HER-2/neu Ile655Val polymorphism and the risk of breast cancer was borderline significant with the heterozygous carrier being at higher risk. However, the frequency of different polymorphic variants varies with ethnicity. The results of this study suggest that a significant gene-gene interaction between ESR1325C (previously reported) and HER-2/neu Ile655Val variants may jointly contribute to a higher risk of breast cancer.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban breast cancer HER-2/neu polymorphism risk
Megjelenés:	Annals of the New York Academy of Sciences. - 1138 (2008), p. 84-94. -
További szerzők:	Mohamed, Abdelrahim Osman Kamal, Hammed Awad, Salma Hassan, Ahmed H. Zilahi Erika (1964-) (molekuláris biológus) Al-Haj, Mohammed Bernsen, Roos Adem, Abdu
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM040275
Első szerző:	Siddig, Awatif
Cím:	Estrogen receptor alpha gene polymorphism and breast cancer / Siddig A., Mohamed A. O., Awad S., Hassan A. H., Zilahi E., Al-Haj M., Bernsen R., Adem A.
Dátum:	2008
Megjegyzések:	Estrogen and estrogen receptors play important roles in the proliferation and development of breast cancer. Several genetic alterations identified in the estrogen receptor alpha gene (ESR1) are thought to influence the expression or function of this protein, and many have been evaluated for their role in breast cancer predisposition. The aim of this study was to evaluate the role of the C325G single nucleotide polymorphism (SNP) in the ESR1 in predisposition to breast cancer. The candidate SNP C325G in ESR1, exon 4 was genotyped in breast cancer patients and in healthy controls that were age and sex matched. Genotyping was performed using both single-stranded conformational polymorphism (SSCP) and a higher throughput allelic discrimination method using real-time PCR. Data on clinical features and demographic details were collected. Significant association of breast cancer risk was shown in the subgroup of women 50 years and younger who had the C allele (OR: 2.28, 95% CI: 1.10-4.72) (P= 0.03). However, the overall susceptibility to breast cancer was not significant, although all estimates were in the direction of a higher risk in women with CC genotypes. This study found significant evidence that polymorphism within the low penetrance ESR1 is associated with breast cancer susceptibility in women of 50 years or younger. There is also an indication that G allele is protective (compared to C allele).
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban breast cancer estrogen receptor alpha gene exon 4 polymorphism
Megjelenés:	Annals of the New York Academy of Sciences. - 1138 (2008), p. 95-107. -
További szerzők:	Mohamed, Abdelrahim Osman Awad, Salma Hassan, Ahmed H. Zilahi Erika (1964-) (molekuláris biológus) Al-Haj, Mohammed Bernsen, Roos Adem, Abdu
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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