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Nat Genet. 2016 Sep;48(9):1071-6. doi: 10.1038/ng.3592. Epub 2016 Jul 18.

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Collaborators (170)

Rahim SA, Abdel-Hadi S, Abdel-Salam G, Abdel-Salam E, Abdou M, Abhytankar A, Adimi P, Ahmad J, Akcakus M, Aksu G, Hajjar SA, Juamaah SA, Muhsen SA, Sannaa NA, Tameni SA, Al-Aama J, Al-Allawi N, Al-Baradie R, Al-Gazali L, Al-Hashem A, Al-Herz W, Al-Jeaid D, Al-Tawari A, Alangari A, Alcais A, S AlFawaz T, Alsum Z, Ammar-Khodja A, Amouian S, Arikan C, Aryani O, Aslanger A, Aydogmus C, Aytekin C, Azam M, Bansagi B, Barbouche MR, Bastaki L, Ben-Omran T, Bindu PS, Blancas L, Boisson-Dupuis S, Bonnet D, Stambouli OB, Bousfiha A, Boussafara L, Boutros J, Bustamante J, Caksen H, Camcioglu Y, Catherinot E, Celik FC, Ciancanelli M, Cipe FE, Clark G, Cobat A, Comu S, Condie A, Condino-Neto A, Desai M, Dobyns W, Dogu F, Domaia M, Dorum M, Egritas O, Azbaoui SE, Baghdadi JE, Ruby ME, El-Harouni A, Elfeky RA, Elghazali G, Faqeih E, Fenerci E, Fieschi C, Funda C, Gamal I, Gelik U, Genel F, Gezdirici A, M Girisha K, Goldstein A, Grattan-Smith P, Gupta N, Hahn J, Hatipoglu N, Hennekam R, Houshmand M, Ichai P, Ikinciogullari A, Ismail S, Jalas C, Jouanguy E, Kabra M, Kalkan G, Kara M, Karaca N, Karaer K, Kariminejad A, Kayserili H, Keser-Emiroglu M, Kilic SS, Kissani N, Kokron C, Koul R, Kutukculer N, Lanternier F, Mahdaviani A, Mahlaoui N, Mansour L, Mansouri D, Margari L, Valente EM, Marzouki N, Masri A, Megahed A, Megahed H, Mekki N, Mesdaghi M, Mikati M, Mojahedi F, Mulley J, Nampoothiri S, Navarrete C, Omar T, Oraby A, Pandaluz A, Parvaneh N, Patiroglu T, Koc ZP, Pellier I, Picard C, Puel A, Raas-Rothschild A, Rajab A, Raoult D, Reisli I, Rezaei N, Sabri A, Sahin Y, Saleem L, Salem F, AlSediq NS, Sanal O, Sanger T, Shakankiry H, Shang L, Shehata N, Shembesh N, Shkalim V, Softah A, Sogaty S, Soliman N, Sonmez-Aunaci F, Sztriha L, Taibi-Berrah L, Temtamy S, Tonekaboni H, Trauner D, Tuysuz B, Tuysuz B, Varan A, Vogt G, Walsh C, Woods G, Yesil G, Yildiran A, Yildiz B, Yuksel A, Zaki M, Zhang SY.

Abstract

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.

PMID:
27428751
PMCID:
PMC5019950
DOI:
10.1038/ng.3592
[PubMed - in process]
Free PMC Article
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