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The CFTR Met 470 Allele Is Associated with Lower Birth Rates in Fertile Men from a Population Isolate
 

Summary: The CFTR Met 470 Allele Is Associated with Lower Birth
Rates in Fertile Men from a Population Isolate
Guš luš m Kosova1,2
*, Joseph K. Pickrell2
, Joanna L. Kelley2
, Patrick F. McArdle3
, Alan R. Shuldiner3,4
, Mark
Abney2
, Carole Ober1,2,5
1 Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, Illinois, United States of America, 2 Department of Human Genetics, University
of Chicago, Chicago, Illinois, United States of America, 3 Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, United States of
America, 4 Geriatrics Research and Education Clinical Center, Veterans Administration Medical Center, Baltimore, Maryland, United States of America, 5 Department of
Obstetrics and Gynecology, University of Chicago, Chicago, Illinois, United States of America
Abstract
Although little is known about the role of the cystic fibrosis transmembrane regulator (CFTR) gene in reproductive
physiology, numerous variants in this gene have been implicated in etiology of male infertility due to congenital bilateral
absence of the vas deferens (CBAVD). Here, we studied the fertility effects of three CBAVD­associated CFTR polymorphisms,
the (TG)m and polyT repeat polymorphisms in intron 8 and Met470Val in exon 10, in healthy men of European descent.
Homozygosity for the Met470 allele was associated with lower birth rates, defined as the number of births per year of

  

Source: Abney, Mark - Department of Human Genetics, University of Chicago
Das, Soma - Department of Human Genetics, University of Chicago

 

Collections: Biology and Medicine; Computer Technologies and Information Sciences