| Autor: |
Karoline Kuchenbaecker, Arthur Gilly, Daniel Suveges, Lorraine Southam, Olga Giannakopoulou, Britt Kilian, Emmanouil Tsafantakis, Maria Karaleftheri, Aliki-Eleni Farmaki, Deepti Gurdasani, Kousik Kundu, Manjinder S. Sandhu, John Danesh, Adam Butterworth, Inês Barroso, George Dedoussis, Eleftheria Zeggini |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2045-2322 |
| DOI: |
10.1038/s41598-021-04436-9 |
| Popis: |
Abstract Haematological traits are linked to cardiovascular, metabolic, infectious and immune disorders, as well as cancer. Here, we examine the role of genetic variation in shaping haematological traits in two isolated Mediterranean populations. Using whole-genome sequencing data at 22× depth for 1457 individuals from Crete (MANOLIS) and 1617 from the Pomak villages in Greece, we carry out a genome-wide association scan for haematological traits using linear mixed models. We discover novel associations (p A) (rs35004220). In the Pomak population, c.364C>A (“HbO-Arab”, rs33946267) is most frequent (4.4% allele frequency). We demonstrate effects on haematological and other traits, including bilirubin, cholesterol, and, in MANOLIS, height and gestation age. We find less severe effects on red blood cell traits for HbS, HbO, and IVS-I-6 (T>C) compared to other b+ mutations. Overall, we uncover allelic diversity of HBB in Greek isolated populations and find an important role for additional rare variants outside of HBB. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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