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  1. Article ; Online: Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

    Eygelaar, Dewald / van Rensburg, Elizabeth J / Joubert, Fourie

    Scientific reports

    2022  Volume 12, Issue 1, Page(s) 802

    Abstract: Since the discovery of the breast cancer susceptibility genes, BRCA1 and BRCA2, various other genes conferring an increased risk for breast cancer have been identified. Studies to evaluate sequence variants in cancer predisposition genes among women of ... ...

    Abstract Since the discovery of the breast cancer susceptibility genes, BRCA1 and BRCA2, various other genes conferring an increased risk for breast cancer have been identified. Studies to evaluate sequence variants in cancer predisposition genes among women of African ancestry are limited and mostly focused on BRCA1 and BRCA2. To characterize germline sequence variants in cancer susceptibility genes, we analysed a cohort of 165 South African women of self-identified African ancestry diagnosed with breast cancer, who were unselected for family history of cancer. With the exception of four cases, all others were previously investigated for BRCA1 and BRCA2 deleterious variants, and were negative for pathogenic variants. We utilized the Illumina TruSight cancer panel for targeted sequencing of 94 cancer susceptibility genes. A total of 3.6% of patients carried a pathogenic/likely pathogenic variant in a known breast cancer susceptibility gene: 1.2% in BRCA1, 0.6% in each of BRCA2, ATM, CHEK2 and PALB, none of whom had any family history of breast cancer. The mean age of patients who carried deleterious variant in BRCA1/BRCA2 was 39 years and 8 months compared to 47 years and 3 months among women who carried a deleterious variant in other breast cancer susceptibility genes.
    MeSH term(s) Adult ; Age Distribution ; BRCA2 Protein/genetics ; Blacks/genetics ; Breast Neoplasms/genetics ; Cohort Studies ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Germ-Line Mutation/genetics ; Humans ; Middle Aged ; Risk ; South Africa ; Ubiquitin-Protein Ligases/genetics ; Young Adult
    Chemical Substances BRCA2 Protein ; BRCA2 protein, human ; BRAP protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2022-01-17
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-022-04791-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

    Sluiter, Michelle D / van Rensburg, Elizabeth J

    Breast cancer research and treatment. 2011 Jan., v. 125, no. 2

    2011  

    Abstract: Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and ovarian cancer. Previously, the techniques available allowed only for the identification of small genomic alterations, but the dawn of new technology now allows for the ... ...

    Abstract Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and ovarian cancer. Previously, the techniques available allowed only for the identification of small genomic alterations, but the dawn of new technology now allows for the rapid detection of large genomic rearrangements (LGRs). LGRs in BRCA1 are responsible for between 0 and 27% of all BRCA1 disease-causing mutations identified in numerous populations. Such alterations are far less common in the BRCA2 gene. To determine the impact of BRCA1 and BRCA2 LGRs in South Africa, 52 hereditary breast and/or ovarian South African families (36 were Afrikaners) were screened for BRCA1 and BRCA2 LGRs using multiplex ligation-dependent probe amplification. These patients were previously shown to be BRCA1 and BRCA2 small mutation negative. One LGR was detected in BRCA1 in a South African family with Greek ancestry. This is a novel deletion of both exons 23 and 24 (NG_005905.2:g.169527_180579del). This first study of BRCA rearrangements in South Africa reveals that LGRs comprise ~3% of identified BRCA1 mutations, a low rate in comparison to other populations. In addition, we have reviewed all 98 previously characterized BRCA1/2 LGRs and re-named them according to the recommended HGVS nomenclature, using the recently released RefSeqGene records, NG_005905.2 and NG_012772.1 for BRCA1 and BRCA2. A standardized resource is now provided which will assist researchers in determining whether their LGRs are novel. Furthermore, we have clarified some of the previously misunderstood rules of nomenclature, which will make uniform reporting of BRCA1/2 easier in the future.
    Keywords breast neoplasms
    Language English
    Dates of publication 2011-01
    Size p. 325-349.
    Publisher Springer US
    Publishing place Boston
    Document type Article
    ZDB-ID 604563-7
    ISSN 1573-7217 ; 0167-6806
    ISSN (online) 1573-7217
    ISSN 0167-6806
    DOI 10.1007/s10549-010-0817-z
    Database NAL-Catalogue (AGRICOLA)

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  3. Article ; Online: Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation.

    Sluiter, Michelle D / van Rensburg, Elizabeth J

    Breast cancer research and treatment

    2011  Volume 125, Issue 2, Page(s) 325–349

    Abstract: Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and ovarian cancer. Previously, the techniques available allowed only for the identification of small genomic alterations, but the dawn of new technology now allows for the ... ...

    Abstract Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and ovarian cancer. Previously, the techniques available allowed only for the identification of small genomic alterations, but the dawn of new technology now allows for the rapid detection of large genomic rearrangements (LGRs). LGRs in BRCA1 are responsible for between 0 and 27% of all BRCA1 disease-causing mutations identified in numerous populations. Such alterations are far less common in the BRCA2 gene. To determine the impact of BRCA1 and BRCA2 LGRs in South Africa, 52 hereditary breast and/or ovarian South African families (36 were Afrikaners) were screened for BRCA1 and BRCA2 LGRs using multiplex ligation-dependent probe amplification. These patients were previously shown to be BRCA1 and BRCA2 small mutation negative. One LGR was detected in BRCA1 in a South African family with Greek ancestry. This is a novel deletion of both exons 23 and 24 (NG_005905.2:g.169527_180579del). This first study of BRCA rearrangements in South Africa reveals that LGRs comprise ~3% of identified BRCA1 mutations, a low rate in comparison to other populations. In addition, we have reviewed all 98 previously characterized BRCA1/2 LGRs and re-named them according to the recommended HGVS nomenclature, using the recently released RefSeqGene records, NG_005905.2 and NG_012772.1 for BRCA1 and BRCA2. A standardized resource is now provided which will assist researchers in determining whether their LGRs are novel. Furthermore, we have clarified some of the previously misunderstood rules of nomenclature, which will make uniform reporting of BRCA1/2 easier in the future.
    MeSH term(s) Base Sequence ; Breast Neoplasms/genetics ; Breast Neoplasms, Male/genetics ; Female ; Gene Rearrangement ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Testing ; Germ-Line Mutation ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Ovarian Neoplasms/genetics ; Sequence Deletion ; South Africa ; Terminology as Topic
    Language English
    Publishing date 2011-01
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 604563-7
    ISSN 1573-7217 ; 0167-6806
    ISSN (online) 1573-7217
    ISSN 0167-6806
    DOI 10.1007/s10549-010-0817-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Expression of the Genes Encoding the Trk and Kdp Potassium Transport Systems of Mycobacterium tuberculosis during Growth In Vitro.

    Cholo, Moloko C / van Rensburg, Elizabeth J / Osman, Ayman G / Anderson, Ronald

    BioMed research international

    2015  Volume 2015, Page(s) 608682

    Abstract: Two potassium (K(+))-uptake systems, Trk and Kdp, are operative in Mycobacterium tuberculosis (Mtb), but the environmental factors triggering their expression have not been determined. The current study has evaluated the expression of these genes in the ... ...

    Abstract Two potassium (K(+))-uptake systems, Trk and Kdp, are operative in Mycobacterium tuberculosis (Mtb), but the environmental factors triggering their expression have not been determined. The current study has evaluated the expression of these genes in the Mtb wild-type and a trk-gene knockout strain at various stages of logarithmic growth in relation to extracellular K(+) concentrations and pH. In both strains, mRNA levels of the K(+)-uptake encoding genes were relatively low compared to those of the housekeeping gene, sigA, at the early- and mid-log phases, increasing during late-log. Increased gene expression coincided with decreased K(+) uptake in the context of a drop in extracellular pH and sustained high extracellular K(+) concentrations. In an additional series of experiments, the pH of the growth medium was manipulated by the addition of 1N HCl/NaOH. Decreasing the pH resulted in reductions in both membrane potential and K(+) uptake in the setting of significant induction of genes encoding both K(+) transporters. These observations are consistent with induction of the genes encoding the active K(+) transporters of Mtb as a strategy to compensate for loss of membrane potential-driven uptake of K(+) at low extracellular pH. Induction of these genes may promote survival in the acidic environments of the intracellular vacuole and granuloma.
    MeSH term(s) Bacterial Proteins/genetics ; Bacterial Proteins/metabolism ; Biological Transport/genetics ; Cation Transport Proteins/genetics ; Gene Expression Regulation, Bacterial/genetics ; Hydrogen-Ion Concentration ; Ion Transport/genetics ; Mycobacterium tuberculosis/genetics ; Potassium/metabolism ; RNA, Messenger/genetics
    Chemical Substances Bacterial Proteins ; Cation Transport Proteins ; RNA, Messenger ; Potassium (RWP5GA015D)
    Language English
    Publishing date 2015
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2698540-8
    ISSN 2314-6141 ; 2314-6133
    ISSN (online) 2314-6141
    ISSN 2314-6133
    DOI 10.1155/2015/608682
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: PALB2 sequence variants in young South African breast cancer patients.

    Sluiter, Michelle / Mew, Samantha / van Rensburg, Elizabeth J

    Familial cancer

    2009  Volume 8, Issue 4, Page(s) 347–353

    Abstract: PALB2 (partner and localizer of BRCA2) is a recently identified breast cancer susceptibility gene, in which mutations confer doubling of breast cancer risk with moderate to low penetrance. Recent studies in various populations report that deleterious ... ...

    Abstract PALB2 (partner and localizer of BRCA2) is a recently identified breast cancer susceptibility gene, in which mutations confer doubling of breast cancer risk with moderate to low penetrance. Recent studies in various populations report that deleterious mutations in this gene account for approximately 1% of familial or early-onset breast cancer cases. This study aimed to determine the involvement of PALB2 mutations in a cohort of 48 young (29-45 years) South African breast cancer patients unselected for family history of breast cancer. The complete coding region and intron-exon boundaries of PALB2 were analyzed. A novel truncating mutation, c.697delG (V233fs) was identified in one patient. A missense variant (E211G), identified in another patient, appears to be segregating with the disease, but in silico analysis using SIFT, PolyPhen and A-GVGD, indicates that this variant is nonpathogenic. In addition, four other missense, one synonymous and three intronic variants were detected, all of which appear polymorphic. This represents the second study to analyze the role of PALB2 in early-onset breast cancer patients unselected for family history. The first study, of a Chinese population, established that PALB2 was responsible for 1.3% of early-onset breast cancer cases. Our study reports that deleterious mutations in PALB2 account for approximately 2% (1/48) of South African early-onset breast cancer.
    MeSH term(s) Adult ; Age of Onset ; Amino Acid Sequence ; Base Sequence ; Breast Neoplasms/genetics ; DNA Mutational Analysis ; Fanconi Anemia Complementation Group N Protein ; Female ; Genetic Predisposition to Disease ; Humans ; Middle Aged ; Molecular Sequence Data ; Mutation ; Nuclear Proteins/genetics ; Pedigree ; South Africa ; Tumor Suppressor Proteins/genetics
    Chemical Substances Fanconi Anemia Complementation Group N Protein ; Nuclear Proteins ; PALB2 protein, human ; Tumor Suppressor Proteins
    Language English
    Publishing date 2009-03-31
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1502496-9
    ISSN 1573-7292 ; 1389-9600
    ISSN (online) 1573-7292
    ISSN 1389-9600
    DOI 10.1007/s10689-009-9241-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.

    Xu, Bin / Woodroffe, Abigail / Rodriguez-Murillo, Laura / Roos, J Louw / van Rensburg, Elizabeth J / Abecasis, Gonçalo R / Gogos, Joseph A / Karayiorgou, Maria

    Proceedings of the National Academy of Sciences of the United States of America

    2009  Volume 106, Issue 39, Page(s) 16746–16751

    Abstract: To elucidate the genetic architecture of familial schizophrenia we combine linkage analysis with studies of fine-level chromosomal variation in families recruited from the Afrikaner population in South Africa. We demonstrate that individually rare ... ...

    Abstract To elucidate the genetic architecture of familial schizophrenia we combine linkage analysis with studies of fine-level chromosomal variation in families recruited from the Afrikaner population in South Africa. We demonstrate that individually rare inherited copy number variants (CNVs) are more frequent in cases with familial schizophrenia as compared to unaffected controls and affect almost exclusively genic regions. Interestingly, we find that while the prevalence of rare structural variants is similar in familial and sporadic cases, the type of variants is markedly different. In addition, using a high-density linkage scan with a panel of nearly 2,000 markers, we identify a region on chromosome 13q34 that shows genome-wide significant linkage to schizophrenia and show that in the families not linked to this locus, there is evidence for linkage to chromosome 1p36. No causative CNVs were identified in either locus. Overall, our results from approaches designed to detect risk variants with relatively low frequency and high penetrance in a well-defined and relatively homogeneous population, provide strong empirical evidence supporting the notion that multiple genetic variants, including individually rare ones, that affect many different genes contribute to the genetic risk of familial schizophrenia. They also highlight differences in the genetic architecture of the familial and sporadic forms of the disease.
    MeSH term(s) Cohort Studies ; Gene Dosage ; Genetic Linkage ; Genetic Variation ; Genome, Human ; Humans ; Schizophrenia/genetics ; South Africa
    Language English
    Publishing date 2009-09-11
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.0908584106
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Maternal characteristics and pregnancy outcomes of hospitalized pregnant women with SARS-CoV-2 infection in South Africa: An International Network of Obstetric Survey Systems-based cohort study.

    Budhram, Samantha / Vannevel, Valerie / Botha, Tanita / Chauke, Lawrence / Bhoora, Shastra / Balie, Gaynor M / Odell, Natalie / Lombaard, Hennie / Wise, Amy / Georgiou, Chrysanthi / Ngxola, Nondumiso / Wynne, Emma / Mbewu, Unati / Mabenge, Mfundo / Phinzi, Sibusiso / Gubu-Ntaba, Nontsikelelo / Goldman, Gareth / Tunkyi, Kay / Prithipal, Sudhir /
    Naidoo, Keshree / Venkatachalam, Santhi / Moodley, Terence / Mould, Sean / Hlabisa, Mzuvele / Govender, Logie / Maistry, Charlene / Habineza, John P / Israel, Priya / Foolchand, Serantha / Tsibiyane, Nomandla V / Panday, Mala / Soma-Pillay, Priya / Adam, Sumaiya / Molokoane, Felicia / Mojela, Matthew S / van Rensburg, Elizabeth J / Mashamba, Tshililo / Matjila, Mushi / Fawcus, Sue / Osman, Ayesha / Venter, Mareli / Petro, Gregory / Fakier, Ahminah / Langenegger, Eduard / Cluver, Catherine A / Bekker, Adrie / de Waard, Liesl / Stewart, Chantal / Ngene, Nnabuike C / Lunda, Ongombe / N Cebekhulu, Sylvia / Moodley, Siva / Koranteng-Peprah, Mama-Asu / Ati, Emmanuel M C / Maswime, Salome / Yates, Laura M

    International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics

    2021  Volume 155, Issue 3, Page(s) 455–465

    Abstract: Objective: To describe risk factors and outcomes of pregnant women infected with SARS-CoV-2 admitted to South African healthcare facilities.: Methods: A population-based cohort study was conducted utilizing an amended International Obstetric ... ...

    Abstract Objective: To describe risk factors and outcomes of pregnant women infected with SARS-CoV-2 admitted to South African healthcare facilities.
    Methods: A population-based cohort study was conducted utilizing an amended International Obstetric Surveillance System protocol. Data on pregnant women with SARS-CoV-2 infection, hospitalized between April 14, 2020, and November 24, 2020, were analyzed.
    Results: A total of 36 hospitals submitted data on 673 infected hospitalized pregnant women; 217 (32.2%) were admitted for COVID-19 illness and 456 for other indications. There were 39 deaths with a case fatality rate of 6.3%: 32 (14.7%) deaths occurred in women admitted for COVID-19 illness compared to 7 (1.8%) in women admitted for other indications. Of the women, 106 (15.9%) required critical care. Maternal tuberculosis, but not HIV co-infection or other co-morbidities, was associated with admission for COVID-19 illness. Rates of cesarean delivery did not differ significantly between women admitted for COVID-19 and those admitted for other indications. There were 179 (35.4%) preterm births, 25 (4.7%) stillbirths, 12 (2.3%) neonatal deaths, and 162 (30.8%) neonatal admissions. Neonatal outcomes did not differ significantly from those of infected women admitted for other indications.
    Conclusion: The maternal mortality rate was high among women admitted with SARS-CoV-2 infection and higher in women admitted primarily for COVID-19 illness with tuberculosis being the only co-morbidity associated with admission.
    MeSH term(s) COVID-19 ; Cohort Studies ; Female ; Humans ; Infant, Newborn ; Infectious Disease Transmission, Vertical ; Pregnancy ; Pregnancy Complications, Infectious/epidemiology ; Pregnancy Outcome/epidemiology ; Pregnant Women ; Premature Birth ; SARS-CoV-2 ; South Africa/epidemiology
    Language English
    Publishing date 2021-09-16
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80149-5
    ISSN 1879-3479 ; 0020-7292
    ISSN (online) 1879-3479
    ISSN 0020-7292
    DOI 10.1002/ijgo.13917
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

    Xu, Bin / Woodroffe, Abigail / Rodriguez-Murillo, Laura / Roos, J. Louw / van Rensburg, Elizabeth J / Abecasis, Gonçalo R / Gogos, Joseph A / Karayiorgou, Maria

    Proceedings of the National Academy of Sciences of the United States of America. 2009 Sept. 29, v. 106, no. 39

    2009  

    Abstract: To elucidate the genetic architecture of familial schizophrenia we combine linkage analysis with studies of fine-level chromosomal variation in families recruited from the Afrikaner population in South Africa. We demonstrate that individually rare ... ...

    Abstract To elucidate the genetic architecture of familial schizophrenia we combine linkage analysis with studies of fine-level chromosomal variation in families recruited from the Afrikaner population in South Africa. We demonstrate that individually rare inherited copy number variants (CNVs) are more frequent in cases with familial schizophrenia as compared to unaffected controls and affect almost exclusively genic regions. Interestingly, we find that while the prevalence of rare structural variants is similar in familial and sporadic cases, the type of variants is markedly different. In addition, using a high-density linkage scan with a panel of nearly 2,000 markers, we identify a region on chromosome 13q34 that shows genome-wide significant linkage to schizophrenia and show that in the families not linked to this locus, there is evidence for linkage to chromosome 1p36. No causative CNVs were identified in either locus. Overall, our results from approaches designed to detect risk variants with relatively low frequency and high penetrance in a well-defined and relatively homogeneous population, provide strong empirical evidence supporting the notion that multiple genetic variants, including individually rare ones, that affect many different genes contribute to the genetic risk of familial schizophrenia. They also highlight differences in the genetic architecture of the familial and sporadic forms of the disease.
    Keywords disease incidence ; genes ; genetic variation ; loci ; penetrance ; risk ; schizophrenia ; South Africa
    Language English
    Dates of publication 2009-0929
    Size p. 16746-16751.
    Publishing place National Academy of Sciences
    Document type Article
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.0908584106
    Database NAL-Catalogue (AGRICOLA)

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  9. Article ; Online: Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.

    Feller, Liviu / Wood, Neil H / Sluiter, Michelle D / Noffke, Claudia / Raubenheimer, Erich J / Lemmer, Johan / van Rensburg, Elizabeth J

    American journal of medical genetics. Part A

    2008  Volume 146A, Issue 10, Page(s) 1350–1353

    MeSH term(s) African Continental Ancestry Group/genetics ; Child ; Connexin 43/genetics ; Craniofacial Abnormalities/genetics ; Eye Abnormalities/genetics ; Eye Abnormalities/physiopathology ; Fingers/abnormalities ; Humans ; Male ; Mutation ; Odontodysplasia/genetics ; Odontodysplasia/physiopathology ; South Africa ; Syndactyly ; Syndrome ; Tooth Abnormalities/genetics
    Chemical Substances Connexin 43 ; GJA1 protein, human
    Language English
    Publishing date 2008-04-14
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.32272
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  10. Article: A possible role of the cytochrome P450c17alpha gene (CYP17) polymorphism in the pathobiology of uterine leiomyomas from black South African women: a pilot study.

    Amant, Frédéric / Dorfling, Cecilia M / de Brabanter, Jos / Vandewalle, Joos / Vergote, Ignace / Lindeque, B G / van Rensburg, Elizabeth J

    Acta obstetricia et gynecologica Scandinavica

    2004  Volume 83, Issue 3, Page(s) 234–239

    Abstract: Background: To investigate the role of the CYP17 gene promoter polymorphism in the pathobiology of uterine leiomyomas in African and Caucasian women.: Methods: During a 6-month period, 145 Caucasian and black South African women undergoing ... ...

    Abstract Background: To investigate the role of the CYP17 gene promoter polymorphism in the pathobiology of uterine leiomyomas in African and Caucasian women.
    Methods: During a 6-month period, 145 Caucasian and black South African women undergoing hysterectomy were included prospectively. Blood samples were obtained for DNA analysis. Factors modifying the risk for uterine leiomyoma growth such as age, parity, age at last birth, weight, body mass index, menopausal status, cigarette smoking and oral contraceptive use were determined.
    Results: The risk for leiomyoma development among black South African homozygous carriers of the CYP17 A2 allele was shown to be significantly increased when compared to women homozygous for the CYP17 A1 allele or to heterozygous women. Logistic regression analysis disclosed age, parity and CYP17 polymorphism to have an impact on the presence of uterine leiomyomas (p-values are, respectively, 0.0006, 0.0001 and 0.03) in black South African women. However, among Caucasian women, logistic regression analysis showed only intake of oral contraceptives to influence the formation of uterine leiomyomas (p = 0.03).
    Conclusion: This exploratory trial suggests that among African women, homozygous carriers of the CYP17 A2 allele expose their myometrium to a stronger estrogenic stimulation contributing to the pathobiology of uterine leiomyomas.
    MeSH term(s) Adult ; African Continental Ancestry Group/genetics ; European Continental Ancestry Group/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Hysterectomy ; Leiomyoma/diagnosis ; Leiomyoma/genetics ; Leiomyoma/surgery ; Logistic Models ; Middle Aged ; Pilot Projects ; Polymorphism, Genetic ; Probability ; Promoter Regions, Genetic ; Prospective Studies ; Risk Assessment ; Sampling Studies ; Sensitivity and Specificity ; South Africa ; Steroid 17-alpha-Hydroxylase/genetics ; Uterine Neoplasms/diagnosis ; Uterine Neoplasms/genetics ; Uterine Neoplasms/surgery
    Chemical Substances Steroid 17-alpha-Hydroxylase (EC 1.14.14.19)
    Language English
    Publishing date 2004-03
    Publishing country United States
    Document type Comparative Study ; Journal Article
    ZDB-ID 80019-3
    ISSN 1600-0412 ; 0001-6349
    ISSN (online) 1600-0412
    ISSN 0001-6349
    Database MEDical Literature Analysis and Retrieval System OnLINE

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