Thread by @mitoPR

We are excited to share our latest article which came out today in @AJHGNews! In this study we investigate genetic factors involved in preeclampsia (a severe complication of pregnancy) in a sample of Andean families 👪 from the Peruvian highlands🏔️ 1/n 🧵sciencedirect.com/science/articl…

@AJHGNews Why does this matter? Preeclampsia is a hypertensive complication of pregnancy that affects pregnant parents, esp. women, & their families worldwide 🤰🏻👩🏾‍🍼🤱🏽🫄🏻🌎. Its a major cause of premature birth, as well as maternal  morbidity & mortality. 2/n figo.org/figo-releases-…

Despite this high health burden it's been hard to disentangle the genetic factors🧬 underlying this condition from the many env. & social factors that also impact risk; such as degree of access to healthcare🏥, family history (from both parents 👨‍👦👩‍👦!), co-morbidities, etc. 3/n

One factor known to impact risk of developing preeclampsia is long-term residence at high altitudes⛰️. How exactly this happens is still under study🤷🏻‍♀️ some researchers suggest it may be due to the impact of chronic hypoxia on multiple body systems 🫀🫁imrpress.com/journal/FBL/12… 4/n

Our study set out to learn more by working with families experiencing preeclamptic pregnancies in the highlands🏔️ of Peru 🇵🇪, a region where preeclampsia morbidity is very high but the genetic factors involved are not well characterized 5/n healthaffairs.org/doi/10.1377/hl…

Our team worked w/the regional hospital of Puno to recruit case and control families 👪 willing to donate 🧬🩸samples for research. The strength of this sampling strategy is that it considers the DNA diversity of all members of the family triad: mother, father and baby! 6/n

I want to pause here to highlight that this part of the work was led by the teams in Puno & Lima 🇵🇪who worked with families and healthcare practitioners over several yrs, carefully collecting, inventorying & processing 100s of samples 7/n @galloc3

@galloc3 We performed several analyses with these samples, incl. SNP genotyping, local ancestry estimation, TDT, and association mapping. We also did an ELISA assay to investigate wether protein expression levels differed btw cases & controls 8/n

@galloc3 Our analyses found associations w/variants within clotting factor genes F10,F7, PROZ on chr 13 of the offspring 🧒🏽genome suggesting that irregular coagulation may play a role in development of preeclampsia at high altitudes. 9/n

@galloc3 We also identified a potential adaptive signal in a region on chr 10 surrounding a gene previously identified as a potential preeclampsia biomarker: ADAM12 10/n @ramgonzalezb

@galloc3 @ramgonzalezb These variants are candidates for future replication and functional validation (next steps!) & this work is a 1st step towards better characterizing some of the 🧬 components influencing preeclampsia and human reproduction among altitude adapted populations in #LATAM 11/n

@galloc3 @ramgonzalezb This work was a collaborative effort btw teams based in 🇵🇪🇲🇽🇺🇸 & incl awesome scientists like @KeyMBad @genandgenes @popgenepi (pictured below 2019!) @morestrada @ElisaTZhang @lan_KarlaSM @ramgonzalezb @JavierMenRev @galloc3 @kaustubhad
& many others not on twitter 12/n

@galloc3 @ramgonzalezb @KeyMBad @genandgenes @popgenepi @morestrada @ElisaTZhang @lan_KarlaSM @JavierMenRev @kaustubhad We are especially thankful to the people of Puno, Peru who participated in this study; esp. the many mothers 🤱🏽👩‍👧👩‍👦‍👦who trusted us with these samples. I hope this study represent one more step towards someday preventing this condition in the future. 13/n

@galloc3 @ramgonzalezb @KeyMBad @genandgenes @popgenepi @morestrada @ElisaTZhang @lan_KarlaSM @JavierMenRev @kaustubhad On a personal note, I'd like to end by acknowledging my own connection & positionally w/this topic I myself was a premie baby due to my mom’s almost-fatal preeclamptic pregnancy. I hope our work can catalyze more research to help other pregnant ppl avoid what she experienced END