title: Unique variation in genetic selection among Black North American women and its potential influence on pregnancy outcome.
abstract: We hypothesize that variations in the frequency of genetic polymorphisms, reflecting ancestral differences in living conditions and exposure to microorganisms, increase susceptibility to adverse pregnancy outcome among present day Black North American women. Striking differences were observed in the frequency of genetic variants between Black and White or Hispanic women in 5 genes (IL1RN, MBL2, PPARA, ATG16L1, CIAS1) associated with inflammation and anti-microbial immunity. The CIAS1 and IL1RN polymorphisms were associated with altered interleukin-1β serum levels; the MBL2 polymorphism resulted in a decreased serum mannose-binding lectin concentration. Gene polymorphisms associated with an alteration in innate immunity were most frequent in Black women. This may reflect an evolutionary selection in response to an ancient environment containing a high multitude of microorganisms, and may increase susceptibility of Black women to infection-associated preterm birth in the current North American environment.
authors.affiliation: Division of Immunology and Infectious Diseases, Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.
authors.forename: Shirlee
authors.initials: S
authors.lastname: Jaffe
authors.forename: Neil
authors.initials: N
authors.lastname: Normand
authors.forename: Aswathi
authors.initials: A
authors.lastname: Jayaram
authors.forename: Theofano
authors.initials: T
authors.lastname: Orfanelli
authors.forename: Georgios
authors.initials: G
authors.lastname: Doulaveris
authors.forename: Mariana
authors.initials: M
authors.lastname: Passos
authors.forename: Tomi T
authors.initials: TT
authors.lastname: Kanninen
authors.forename: Ann Marie
authors.initials: AM
authors.lastname: Bongiovanni
authors.forename: Iara M
authors.initials: IM
authors.lastname: Linhares
authors.forename: Steven S
authors.initials: SS
authors.lastname: Witkin
mesh_terms: D001741:Black or African American; D000071183:Autophagy-Related Proteins; D005075:Biological Evolution; D002352:Carrier Proteins / Q000235:genetics; D017753:Ecosystem; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics*; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics; D037601:Mannose-Binding Lectin / Q000235:genetics; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D047493:PPAR alpha / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology* / Q000235:genetics; D012641:Selection, Genetic / Q000235:genetics*; D014481:United States / Q000453:epidemiology
chemical_list: C518959:ATG16L1 protein, human; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D047493:PPAR alpha