Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements

Rębała, Krzysztof; Martínez‐Cruz, Begoña; Tönjes, Anke; Kovacs, Peter; Stümvoll, Michael; Lindner, Iris; Büttner, Andreas; Wichmann, H‐Erich; Siváková, Daniela; Soták, Miroslav; Szczerkowska, Zofia; Comas, David

doi:10.1038/ejhg.2012.190

Cited by 38 publications

(38 citation statements)

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“…We determined descent clusters, ie, groups of men likely to have a common ancestor that was more recent than the age when surnames were established following with a modified version of the heuristic in Martínez-González et al 19 (for further details on determining descent clusters and their ages, see Supplementary Text S1). Several external references were used for comparison as necessary: Catalans and Italians (only for STRs), 19 Gascons, 20 Bavarians, 21 Moroccans, 22 Swedes (www.yhrd.org), and Sephardic Jews. 23 Local haplogroup frequencies were estimated from our data by using descent clusters as sampling units, thus avoiding related individuals.…”

Section: Discussionmentioning

confidence: 99%

Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency

et al. 2015

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The biological behavior of the Y chromosome, which is paternally inherited, implies that males sharing the same surname may also share a similar Y chromosome. However, socio-cultural factors, such as polyphyletism, non-paternity, adoption, or matrilineal surname transmission, may prevent the joint transmission of the surname and the Y chromosome. By genotyping 17 Y-STRs and 68 SNPs in~2500 male samples that each carried one of the 50 selected Catalan surnames, we could determine sets of descendants of a common ancestor, the population of origin of the common ancestor, and the date when such a common ancestor lived. Haplotype diversity was positively correlated with surname frequency, that is, rarer surnames showed the strongest signals of coancestry. Introgression rates of Y chromosomes into a surname by non-paternity, adoption, and transmission of the maternal surname were estimated at 1.5 − 2.6% per generation, with some local variation. Average ages for the founders of the surnames were estimated at~500 years, suggesting a delay between the origin of surnames (twelfth and thirteenth centuries) and the systematization of their paternal transmission. We have found that, in general, a foreign etymology for a surname does not often result in a non-indigenous origin of surname founders; however, bearers of some surnames with an Arabic etymology show an excess of North African haplotypes. Finally, we estimate that surname prediction from a Y-chromosome haplotype, which may have interesting forensic applications, has a~60% sensitivity but a 17% false discovery rate.

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Section: Discussionmentioning

confidence: 99%

Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency

et al. 2015

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“…Such a divergence has also been observed on the genetic level. Confirmation of the genetic distinctiveness of the Kashubian from other Polish regional populations comes from studies of serum protein markers and Y-chromosomal SNPs and short tandem repeats (STRs), which have also shown hardly detectable German paternal ancestry admixture (Walter et al 1992; Rębała et al 2012). Further evidence comes from the recent mutational studies of a few Mendelian traits, where particular mutations have been almost exclusively detected in patients from this region.…”

Section: Discussionmentioning

confidence: 99%

“…Post-war resettlements resulted in homogenisation of the contemporary Polish paternal lineages (Rębała et al 2012). At present, the population of ca.…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population

et al. 2013

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Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease. A total of 141 children with steroid-resistant nephrotic syndrome (SRNS) were enrolled in the study. Mutational analysis included the entire coding sequence and intron boundaries of the NPHS2 gene. Restriction fragment length polymorphism (RFLP) and TaqMan genotyping assay were applied to detect selected NPHS2 sequence variants in 575 population-matched controls. Twenty patients (14 %) had homozygous or compound heterozygous NPHS2 mutations, the most frequent being c.1032delT found in 11 children and p.R138Q found in four patients. Carriers of the c.1032delT allele were exclusively found in the Pomeranian (Kashubian) region, suggesting a founder effect origin. The 14 % NPHS2 gene mutation detection rate is similar to that observed in other populations. The heterogeneity of mutations detected in the studied group confirms the requirement of genetic testing the entire NPHS2 coding sequence in Polish patients, with the exception of Kashubs, who should be initially screened for the c.1032delT deletion.

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“…Assessments were performed in all children aged 0–14 years and in three age subgroups: 0–4, 5–9 and 10–14 years. The Polish population is characterized by genetic and ethnic homogeneity . This allows extrapolation of the results to the entire paediatric population of Poland without a considerable bias.…”

Section: Methodsmentioning

confidence: 99%

Updated 24‐year trend of Type 1 diabetes incidence in children in Poland reveals a sinusoidal pattern and sustained increase

et al. 2017

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Aims To present the incidence trend for Type 1 diabetes in Polish children aged 0–14 years, updated using data collected during 2005–2012, and assess the reliability of the predictive model constructed previously using the 1989–2004 database. Methods Children aged < 15 years with newly diagnosed Type 1 diabetes are recorded prospectively (EURODIAB criteria) in several regional registers in Poland. Age‐ and gender‐standardized incidence rates for Type 1 diabetes were calculated per 100 000 persons/year. Incidence rates were analysed in terms of the dependency on age, gender, geographical region and population density. Incidence rate trends over time were modelled using generalized linear models. Results The mean standardized incidence for 1989–2012 was 12.72 per 100 000 persons/year [95% confidence interval (CI), 11.35 to 14.21]. Over the 24‐year observation period, the incidence increased from 5.36 to 22.74 per 100 000 persons/year. The lowest incidence rate was in children aged 0–4 years (8.35, 95% CI 7.27 to 9.57 per 100 000 persons/year). There was no difference between genders, or urban and rural regions. Incidence rates were higher in northern compared with southern Poland [14.04 (95% CI 12.59 to 15.63) vs. 11.94 (95% CI 10.62 to 13.39) per 100 000 persons/year]. The new data corrected the earlier predictive model by changing the estimates of some factors related to patient age, gender and their interactions with the remaining factors. The incidence rate shows periodic 5.33‐year fluctuations. The periodicity component allows for a more accurate prediction of the incidence rate over time. Conclusions This cohort study reveals a sustained increase in Type 1 diabetes incidence in Polish children aged 0–14 years with regular, sinusoidal fluctuations and a slight levelling off in past few years. It is of concern that are the highest increases in incidence are found in children aged 0–4 years.

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Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements

Cited by 38 publications

References 32 publications

Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency

Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population

Updated 24‐year trend of Type 1 diabetes incidence in children in Poland reveals a sinusoidal pattern and sustained increase

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