Insight into the 8p23.1 duplication syndrome: Case report of a young women with infertility

Karaaoui, AbdulKarim El; Ghazeeri, Ghina; Assaf, Nada

doi:10.1016/j.heliyon.2023.e15515

Cited by 1 publication

(1 citation statement)

References 19 publications

(33 reference statements)

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“…The rs12334416 variant is located in PINX1, with the credible set spanning several additional genes, and is also in high LD with eQTLs to SOX7, GATA4, and RP1L1. PINX1 is associated with 8p23.1 duplication syndrome linked to developmental delay 12 . The remaining signals lack coding or QTL evidence, with variant-to-gene mapping defined solely through proximity evidence: the rs35847492 credible set overlaps TNKS, a gene associated with 8p23.1 duplication syndrome linked to developmental delay 12 ; the credible set for rs2920991 overlaps PRAG1, a gene that encodes an enzyme in the tyrosine kinase family 13 ; the rs10852372 signal is near C16orf72, which has been recently identified as a regulator of telomere integrity and p53 regulation 14 ; finally, the rs1855263 (~850Kb from DIAPH3) and rs13421417 (~387Kb from LRP1B) signals are somewhat distant to their nearest genes.…”

Section: Gwasmentioning

confidence: 99%

Trans-ancestral Genome Wide Association Study of Sporadic and Recurrent Miscarriage

Reynoso,

Nandakumar,

Shi

et al. 2024

Preprint

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Miscarriage is a common adverse pregnancy outcome, impacting approximately 15% of pregnancies. Herein, we present results of the largest trans-ancestral genome wide association study for miscarriage to date, based on 334,593 cases of sporadic, and 52,087 cases of recurrent miscarriage in the 23andMe, Inc. Research Cohort. We identified 10 novel genome-wide significant associations for sporadic miscarriage, and one for recurrent miscarriage. These loci mapped to genes with roles in neural development and telomere length, and to developmental disorders including autism spectrum disorder. Three variants, with similar directionality and magnitude of effect, replicated in a previously published GWAS. Using Mendelian randomization and triangulation, robust evidence was found for smoking causally increasing the risk of sporadic (genetic liability to ever vs never smoking: OR 1.13; 95%CI: 1.11-1.15; P=2.61e-42) and recurrent (OR 1.25; 95%CI: 1.21-1.30; P=5.47e-34) miscarriage, with moderate, yet triangulating, evidence identified for a potential etiological role of caffeine consumption.

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Section: Gwasmentioning

confidence: 99%