Pregnancy-related complications (PRC) re-present a serious public health and healthcare challenge. In European countries, infertility among couples varies from 5 to 24 %. The cause of PRC may include autoimmune and metabolic factors, correctness of the karyotype and variants of selected genes. The impact magnitude of genetic variants in one of PRC, pregnancy loss (PL), is still unexplored. Therefore, in this study, raw data on 12 single-nucleotide polymorphisms (SNPs) that were published separately in 2017-2019 were re-examined. We analysed the co-inheritance of 12 SNPs: rs6025 FV, rs429358 and rs7412 ApoE, rs1799752 ACE, rs1799889 PAI-1, rs1799963 PT, rs1801133 MTHFR, rs9468 and rs1800547 INV 17q21.31, rs731236 and rs1544410 VDR, and rs10421768 HAMP. Each time, the same study group of 154 women with PL, mean age 33 (± 5.4) years, and 154 mothers without PL, mean age 31.4 (± 6.7) years, with at least one live-born child, a control group, was investigated. In Bosnian women, no relationship of the co-inheritance pattern of any of the studied variants with PL was confirmed: P was in the range 0.248-1.0. In conclusion, the role of co-inheritance of heterozygotes and homozygotes or homozygotes of selected genes in PL has not been fully confirmed.
- MeSH
- Child MeSH
- Adult MeSH
- Genetic Predisposition to Disease MeSH
- Genotype MeSH
- Homozygote MeSH
- Polymorphism, Single Nucleotide genetics MeSH
- Humans MeSH
- Risk Factors MeSH
- Abortion, Spontaneous * genetics MeSH
- Case-Control Studies MeSH
- Pregnancy MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Databáze MIM vznikala postupně v 60. letech minulého století a její internetová podoba je k dispozici od roku 1985. V roce 1998 vyšlo poslední tištěné vydání o třech svazcích. Původní náplní databáze byly informace o jednoduše dědičných poruchách, která však díky rozvoji poznání lidského genomu rozšířila svůj obsah na celý jaderný i mimojaderný genom a zařadila i chorobné stavy se složitou dědičností a epigenetické zásahy do funkce lidského genomu. Stala se nepostradatelnou pomůckou pro genetiky a stává se stále užitečnější i pro ostatní medicínské obory. Obdiv k této zřejmě nejvíce oceňované aktivitě prof.V. A. McKusicka by ovšem neměl zastínit i jeho ostatní aktivity, například jeho podíl na Evropské škole lékařské genetiky, kterou již dvacet let v několika specializovaných bězích ročně pořádá v Itálii prof. Giovanni Romeo (se stručnou biografií prof. V. A. Kusicka).
McKusick's database MIM has grown since its early beginning in sixties to 1985 when the online version (OMIM) appeared. The last edition of three volumes was printed in 1998. It has become a very valuable tool for all geneticists, and also clinicians of other disciplines started using it as a source of important information. The original limitation to disorders with mendelian inheritance has been step by step broken down, all components of human genome and also genes without known function and their epigenetic changes have been included. It was a pleasure for all of us to congratulate to McKusick's honorary degree obtained this year by the oldest European university in Bologna (with a short biography).
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage renal failure and kidney transplantation in its most serious form. The severity of the disease's manifestation depends on the genetic determination of ADPKD. The huge variability of different phenotypes (even within a single family) is not only modulated by the two main ADPKD genes (PKD1 and PKD2) but also by modifier genes and the whole genetic background. CASE PRESENTATION: This is a report of an ADPKD family with co-inheritance of PKD1 and PKD2 pathogenic variants. The proband, with an extremely serious manifestation of ADPKD (the man was diagnosed in early childhood, and with end stage renal disease aged 23), underwent genetic analysis of PKD1 and PKD2, which revealed the presence of pathogenic mutations in both of these genes. The missense PKD2 mutation p.Arg420Gly came from the proband's father, with a mild ADPKD phenotype. The same mutation of the PKD2 gene and similar mild disease presentation were found in the proband's aunt (father's sister) and her son. The nonsense mutation p.Gln2196* within the PKD1 gene was probably inherited from the proband's mother, who died at the age of 45. It was only discovered post mortem, that the real cause of her death was kidney failure as a consequence of untreated ADPKD. Unfortunately, neither the DNA of the proband's mother nor the DNA of any other family members from this side of the pedigree were available for further examination. The proband underwent successful cadaveric kidney transplantation at the age of 24, and this replacement therapy lasted for the next 15 years. CONCLUSIONS: Here, we present a first case of bilineal ADPKD inheritance in the Czech Republic. This report highlights the significant role of modifier genes in genetic determination of ADPKD, especially in connection with seriously deteriorated disease phenotypes. In our case, the modifying role is probably mediated by the PKD2 gene.
- MeSH
- Adult MeSH
- Genetic Variation genetics MeSH
- TRPP Cation Channels genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation, Missense genetics MeSH
- Polycystic Kidney, Autosomal Dominant diagnosis genetics MeSH
- Pedigree MeSH
- Aged, 80 and over MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
2nd ed. xii, 485 s. : fot., obr., tab., grafy ; 24 cm
- MeSH
- Jaw anatomy & histology embryology MeSH
- Mouth anatomy & histology embryology MeSH
- Mouth Mucosa anatomy & histology MeSH
- Conspectus
- Stomatologie
- NML Fields
- zubní lékařství
- MeSH
- History, 19th Century MeSH
- Genetics history MeSH
- Check Tag
- History, 19th Century MeSH
- Publication type
- Biography MeSH
- Journal Article MeSH
- Historical Article MeSH
- Geographicals
- Czech Republic MeSH
- MeSH
- Heredity * genetics MeSH
- Child MeSH
- Adult MeSH
- Twins, Dizygotic MeSH
- Twins, Monozygotic MeSH
- Genetic Research MeSH
- Intelligence * genetics classification MeSH
- Genetics, Medical methods MeSH
- Humans MeSH
- Adolescent MeSH
- Parents MeSH
- Family MeSH
- Statistics as Topic MeSH
- Case-Control Studies MeSH
- Wechsler Scales * standards MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
