Blum-Riese Professor
Chair, Department of Human Genetics
Department of Obstetrics and Gynecology
Committee on Genetics, Genomics, and Systems Biology
Ph.D., Northwestern University, 1979
B.A., George Washington University, 1972
University of Chicago 920 E. 58th St. CLSC 425 Chicago, IL 60637
Phone: (773) 834-0735
Fax: (773) 834-0505

Research Description

The major research objectives of my laboratory are to identify genes that influence complex phenotypes, to understand their evolutionary history, and to elucidate how variation in these genes influences function. Our laboratory focuses on phenotypes related to fertility and to common diseases, and are conducted in a founder population, the Hutterites, and in outbred patient populations. Medicine on the Midway article

Our studies of fertility focus on HLA-region genes, in particular the non-classical HLA-G gene. These studies have indicated that multiple HLA genes influence different aspects of fertility, and that variation in the promoter and 3'UTR of HLA-G affects expression. We recently completed a genome-wide association study for fertility in the Hutterites that identified novel genes that influence reproductive traits in men and women.

Our studies of common diseases focus on phenotypes associated with asthma and heart disease. In collaboration with Mary Sara McPeek and Mark Abney, we developed novel methods for quantitative trait locus (QTL) mapping in the Hutterites, and have studied >30 quantitative traits that are associated with common diseases, some with sex-specific effects. We also collaborate with investigators at the University of Wisconsin – Madison on the Childhood Origins of ASThma (COAST) Study. This is a prospective cohort study of children at high risk for developing asthma and allergy, who are followed from birth onward. Our laboratory is genotyping the children in this study and their parents to identify genetic variation that influences the development of the immune system in the first year of life and the subsequent development of asthma and atopic disease, as well as variation that interacts with early life environmental exposures or with sex-specific effects to influence these phenotypes.

Selected Publications

Genome-wide interaction studies reveal sex-specific asthma risk alleles.
Myers RA, Scott NM, Gauderman WJ, Qiu W, Mathias RA, Romieu I, Levin AM, Pino-Yanes M, Graves PE, Villarreal AB, Beaty TH, Carey VJ, Croteau-Chonka DC, Del Rio Navarro B, Edlund C, Hernandez-Cadena L, Navarro-Olivos E, Padhukasahasram B, Salam MT, Torgerson DG, Van den Berg DJ, Vora H, Bleecker ER, Meyers DA, Williams LK, Martinez FD, Burchard EG, Barnes KC, Gilliland FD, Weiss ST, London SJ, Raby BA, Ober C, Nicolae DL
(2014 Oct) Hum Mol Genet. 2014 Oct 1;23(19):5251-9. doi: 10.1093/hmg/ddu222. Epub 2014 May 13. 24824216


Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.
Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O'Roak BJ, Krumm N, Vives L, Lee C, Roth LA, Rodriguez-Cintron W, Rodriguez-Santana J, Brigino-Buenaventura E, Davis A, Meade K, LeNoir MA, Thyne S, Jackson DJ, Gern JE, Lemanske RF Jr, Shendure J, Abney M, Burchard EG, Ober C, Eichler EE
(2014) PLoS One. 2014 Aug 12;9(8):e104396. doi: 10.1371/journal.pone.0104396. eCollection 2014. 25116239 (Full Text)


The effect of freeze-thaw cycles on gene expression levels in lymphoblastoid cell lines.
Caliskan M, Pritchard JK, Ober C, Gilad Y
(2014) PLoS One. 2014 Sep 5;9(9):e107166. doi: 10.1371/journal.pone.0107166. eCollection 2014. 25192014 (Full Text)


Seasonal variation in human gut microbiome composition.
Davenport ER, Mizrahi-Man O, Michelini K, Barreiro LB, Ober C, Gilad Y
(2014) PLoS One. 2014 Mar 11;9(3):e90731. doi: 10.1371/journal.pone.0090731. eCollection 2014. 24618913 (Full Text)


Disclosure of Genetic Research Results to Members of a Founder Population.
Anderson RL, Murray K, Chong JX, Ouwenga R, Antillon M, Chen P, Diaz de Leon L, Swoboda KJ, Lester LA, Das S, Ober C, Waggoner DJ
(2014 Apr) J Genet Couns. 2014 Apr 29. 24777552


Genome-wide association study of lung function phenotypes in a founder population.
Yao TC, Du G, Han L, Sun Y, Hu D, Yang JJ, Mathias R, Roth LA, Rafaels N, Thompson EE, Loisel DA, Anderson R, Eng C, Arruabarrena Orbegozo M, Young M, Klocksieben JM, Anderson E, Shanovich K, Lester LA, Williams LK, Barnes KC, Burchard EG, Nicolae DL, Abney M, Ober C
(2014 Jan) J Allergy Clin Immunol. 2014 Jan;133(1):248-55.e1-10. doi: 10.1016/j.jaci.2013.06.018. Epub 2013 Aug 6. 23932459


Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile.
Abe K, Ohno Y, Sassa T, Taguchi R, Caliskan M, Ober C, Kihara A
(2013 Dec) J Biol Chem. 2013 Dec 20;288(51):36741-9. doi: 10.1074/jbc.M113.493221. Epub 2013 Nov 12. 24220030 (Full Text)


Variants in DPF3 and DSCAML1 are associated with sperm morphology.
Kosova G, Hotaling JM, Ohlander S, Niederberger C, Prins GS, Ober C
(2014 Feb) J Assist Reprod Genet. 2014 Feb;31(2):131-7. doi: 10.1007/s10815-013-0140-9. Epub 2013 Nov 26. 24271036 (Full Text)


Intellectual disability associated with a homozygous missense mutation in THOC6.
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, Boycott KM
(2013) Orphanet J Rare Dis. 2013 Apr 26;8:62. doi: 10.1186/1750-1172-8-62. 23621916 (Full Text)


Integration of mouse and human genome-wide association data identifies KCNIP4 as an asthma gene.
Himes BE, Sheppard K, Berndt A, Leme AS, Myers RA, Gignoux CR, Levin AM, Gauderman WJ, Yang JJ, Mathias RA, Romieu I, Torgerson DG, Roth LA, Huntsman S, Eng C, Klanderman B, Ziniti J, Senter-Sylvia J, Szefler SJ, Lemanske RF Jr, Zeiger RS, Strunk RC, Martinez FD, Boushey H, Chinchilli VM, Israel E, Mauger D, Koppelman GH, Postma DS, Nieuwenhuis MA, Vonk JM, Lima JJ, Irvin CG, Peters SP, Kubo M, Tamari M, Nakamura Y, Litonjua AA, Tantisira KG, Raby BA, Bleecker ER, Meyers DA, London SJ, Barnes KC, Gilliland FD, Williams LK, Burchard EG, Nicolae DL, Ober C, DeMeo DL, Silverman EK, Paigen B, Churchill G, Shapiro SD, Weiss ST
(2013) PLoS One. 2013;8(2):e56179. doi: 10.1371/journal.pone.0056179. Epub 2013 Feb 14. 23457522 (Full Text)


Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ
(2013 Aug) Circ Cardiovasc Genet. 2013 Aug;6(4):327-36. doi: 10.1161/CIRCGENETICS.113.000097. Epub 2013 Jul 17. 23863954


Maternal microchimerism protects against the development of asthma.
Thompson EE, Myers RA, Du G, Aydelotte TM, Tisler CJ, Stern DA, Evans MD, Graves PE, Jackson DJ, Martinez FD, Gern JE, Wright AL, Lemanske RF, Ober C
(2013 Jul) J Allergy Clin Immunol. 2013 Jul;132(1):39-44. doi: 10.1016/j.jaci.2012.12.1575. Epub 2013 Feb 21. 23434286 (Full Text)


Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bogershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nurnberg G, McLeod DR, Thiele H, Waggoner D, Altmuller J, Boycott KM, Schoser B, Nurnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE
(2013 Jul) Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3. 23830518 (Full Text)


A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.
Levin AM, Mathias RA, Huang L, Roth LA, Daley D, Myers RA, Himes BE, Romieu I, Yang M, Eng C, Park JE, Zoratti K, Gignoux CR, Torgerson DG, Galanter JM, Huntsman S, Nguyen EA, Becker AB, Chan-Yeung M, Kozyrskyj AL, Kwok PY, Gilliland FD, Gauderman WJ, Bleecker ER, Raby BA, Meyers DA, London SJ, Martinez FD, Weiss ST, Burchard EG, Nicolae DL, Ober C, Barnes KC, Williams LK
(2013 Apr) J Allergy Clin Immunol. 2013 Apr;131(4):1176-84. doi: 10.1016/j.jaci.2012.10.002. Epub 2012 Nov 10. 23146381 (Full Text)


The maternal HLA-G 1597DeltaC null mutation is associated with increased risk of pre-eclampsia and reduced HLA-G expression during pregnancy in African-American women.
Loisel DA, Billstrand C, Murray K, Patterson K, Chaiworapongsa T, Romero R, Ober C
(2013 Mar) Mol Hum Reprod. 2013 Mar;19(3):144-52. doi: 10.1093/molehr/gas041. Epub 2012 Sep 21. 23002110 (Full Text)


Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM, Aston KI, Thompson E, Carvalho F, Goncalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
(2013 Mar) PLoS Genet. 2013 Mar;9(3):e1003349. doi: 10.1371/journal.pgen.1003349. Epub 2013 Mar 21. 23555275 (Full Text)


Increased protein-coding mutations in the mitochondrial genome of African American women with preeclampsia.
Ding D, Scott NM, Thompson EE, Chaiworapongsa T, Torres R, Billstrand C, Murray K, Dexheimer PJ, Ismail M, Kay H, Levy S, Romero R, Lindheimer MD, Nicolae DL, Ober C
(2012 Dec) Reprod Sci. 2012 Dec;19(12):1343-51. doi: 10.1177/1933719112450337. Epub 2012 Aug 17. 22902742 (Full Text)


Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans.
Myers RA, Himes BE, Gignoux CR, Yang JJ, Gauderman WJ, Rebordosa C, Xie J, Torgerson DG, Levin AM, Baurley J, Graves PE, Mathias RA, Romieu I, Roth LA, Conti D, Avila L, Eng C, Vora H, LeNoir MA, Soto-Quiros M, Liu J, Celedon JC, Galanter JM, Farber HJ, Kumar R, Avila PC, Meade K, Serebrisky D, Thyne S, Rodriguez-Cintron W, Rodriguez-Santana JR, Borrell LN, Lemanske RF Jr, Bleecker ER, Meyers DA, London SJ, Barnes KC, Raby BA, Martinez FD, Gilliland FD, Williams LK, Burchard EG, Weiss ST, Nicolae DL, Ober C
(2012 Dec) J Allergy Clin Immunol. 2012 Dec;130(6):1294-301. doi: 10.1016/j.jaci.2012.07.054. Epub 2012 Oct 4. 23040885 (Full Text)


Estimating the human mutation rate using autozygosity in a founder population.
Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, Han L, Vives L, O'Roak BJ, Sudmant PH, Shendure J, Abney M, Ober C, Eichler EE
(2012 Nov) Nat Genet. 2012 Nov;44(11):1277-81. doi: 10.1038/ng.2418. Epub 2012 Sep 23. 23001126 (Full Text)


The ABO blood group is a trans-species polymorphism in primates.
Segurel L, Thompson EE, Flutre T, Lovstad J, Venkat A, Margulis SW, Moyse J, Ross S, Gamble K, Sella G, Ober C, Przeworski M
(2012 Nov) Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):18493-8. doi: 10.1073/pnas.1210603109. Epub 2012 Oct 22. 23091028 (Full Text)


Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases.
Li X, Ampleford EJ, Howard TD, Moore WC, Torgerson DG, Li H, Busse WW, Castro M, Erzurum SC, Israel E, Nicolae DL, Ober C, Wenzel SE, Hawkins GA, Bleecker ER, Meyers DA
(2012 Oct) J Allergy Clin Immunol. 2012 Oct;130(4):861-8.e7. doi: 10.1016/j.jaci.2012.04.041. Epub 2012 Jun 12. 22694930 (Full Text)


A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C
(2012 Oct) Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13. 22981120 (Full Text)


Genome-wide ancestry association testing identifies a common European variant on 6q14.1 as a risk factor for asthma in African American subjects.
Torgerson DG, Capurso D, Ampleford EJ, Li X, Moore WC, Gignoux CR, Hu D, Eng C, Mathias RA, Busse WW, Castro M, Erzurum SC, Fitzpatrick AM, Gaston B, Israel E, Jarjour NN, Teague WG, Wenzel SE, Rodriguez-Santana JR, Rodriguez-Cintron W, Avila PC, Ford JG, Barnes KC, Burchard EG, Howard TD, Bleecker ER, Meyers DA, Cox NJ, Ober C, Nicolae DL
(2012 Sep) J Allergy Clin Immunol. 2012 Sep;130(3):622-629.e9. doi: 10.1016/j.jaci.2012.03.045. Epub 2012 May 18. 22607992 (Full Text)


HLA-G polymorphisms and soluble HLA-G protein levels in women with recurrent pregnancy loss from Basrah province in Iraq.
Jassem RM, Shani WS, Loisel DA, Sharief M, Billstrand C, Ober C
(2012 Aug) Hum Immunol. 2012 Aug;73(8):811-7. doi: 10.1016/j.humimm.2012.05.009. Epub 2012 May 28. 22651916 (Full Text)


Genome-wide association study identifies candidate genes for male fertility traits in humans.
Kosova G, Scott NM, Niederberger C, Prins GS, Ober C
(2012 Jun) Am J Hum Genet. 2012 Jun 8;90(6):950-61. doi: 10.1016/j.ajhg.2012.04.016. Epub 2012 May 24. 22633400 (Full Text)


Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals.
Uricchio LH, Chong JX, Ross KD, Ober C, Nicolae DL
(2012 May) Genet Epidemiol. 2012 May;36(4):312-9. doi: 10.1002/gepi.21623. Epub 2012 Mar 28. 22460724 (Full Text)


Resequencing candidate genes implicates rare variants in asthma susceptibility.
Torgerson DG, Capurso D, Mathias RA, Graves PE, Hernandez RD, Beaty TH, Bleecker ER, Raby BA, Meyers DA, Barnes KC, Weiss ST, Martinez FD, Nicolae DL, Ober C
(2012 Feb) Am J Hum Genet. 2012 Feb 10;90(2):273-81. doi: 10.1016/j.ajhg.2012.01.008. 22325360 (Full Text)


IFNG genotype and sex interact to influence the risk of childhood asthma.
Loisel DA, Tan Z, Tisler CJ, Evans MD, Gangnon RE, Jackson DJ, Gern JE, Lemanske RF Jr, Ober C
(2011 Sep) J Allergy Clin Immunol. 2011 Sep;128(3):524-31. doi: 10.1016/j.jaci.2011.06.016. Epub 2011 Jul 27. 21798578 (Full Text)


Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.
Torgerson DG, Ampleford EJ, Chiu GY, Gauderman WJ, Gignoux CR, Graves PE, Himes BE, Levin AM, Mathias RA, Hancock DB, Baurley JW, Eng C, Stern DA, Celedon JC, Rafaels N, Capurso D, Conti DV, Roth LA, Soto-Quiros M, Togias A, Li X, Myers RA, Romieu I, Van Den Berg DJ, Hu D, Hansel NN, Hernandez RD, Israel E, Salam MT, Galanter J, Avila PC, Avila L, Rodriquez-Santana JR, Chapela R, Rodriguez-Cintron W, Diette GB, Adkinson NF, Abel RA, Ross KD, Shi M, Faruque MU, Dunston GM, Watson HR, Mantese VJ, Ezurum SC, Liang L, Ruczinski I, Ford JG, Huntsman S, Chung KF, Vora H, Li X, Calhoun WJ, Castro M, Sienra-Monge JJ, del Rio-Navarro B, Deichmann KA, Heinzmann A, Wenzel SE, Busse WW, Gern JE, Lemanske RF Jr, Beaty TH, Bleecker ER, Raby BA, Meyers DA, London SJ, Gilliland FD, Burchard EG, Martinez FD, Weiss ST, Williams LK, Barnes KC, Ober C, Nicolae DL
(2011 Sep) Nat Genet. 2011 Jul 31;43(9):887-92. doi: 10.1038/ng.888. 21804549 (Full Text)


Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Caliskan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C
(2011 Apr) Hum Mol Genet. 2011 Apr 1;20(7):1285-9. doi: 10.1093/hmg/ddq569. Epub 2011 Jan 6. 21212097 (Full Text)


Gene-environment interactions in human disease: nuisance or opportunity?
Ober C, Vercelli D
(2011 Mar) Trends Genet. 2011 Mar;27(3):107-15. doi: 10.1016/j.tig.2010.12.004. Epub 2011 Jan 7. 21216485 (Full Text)


The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.
Kosova G, Pickrell JK, Kelley JL, McArdle PF, Shuldiner AR, Abney M, Ober C
(2010 Jun) PLoS Genet. 2010 Jun 3;6(6):e1000974. doi: 10.1371/journal.pgen.1000974. 20532200 (Full Text)


PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice.
Baudat F, Buard J, Grey C, Fledel-Alon A, Ober C, Przeworski M, Coop G, de Massy B
(2010 Feb) Science. 2010 Feb 12;327(5967):836-40. doi: 10.1126/science.1183439. Epub 2009 Dec 31. 20044539


Colloquium papers: Heritability of reproductive fitness traits in a human population.
Kosova G, Abney M, Ober C
(2010 Jan) Proc Natl Acad Sci U S A. 2010 Jan 26;107 Suppl 1:1772-8. doi: 10.1073/pnas.0906196106. Epub 2009 Oct 12. 19822755 (Full Text)


Sex-specific genetic architecture of human disease.
Ober C, Loisel DA, Gilad Y
(2008 Dec) Nat Rev Genet. 2008 Dec;9(12):911-22. doi: 10.1038/nrg2415. 19002143 (Full Text)


Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
Ober C, Tan Z, Sun Y, Possick JD, Pan L, Nicolae R, Radford S, Parry RR, Heinzmann A, Deichmann KA, Lester LA, Gern JE, Lemanske RF Jr, Nicolae DL, Elias JA, Chupp GL
(2008 Apr) N Engl J Med. 2008 Apr 17;358(16):1682-91. doi: 10.1056/NEJMoa0708801. Epub 2008 Apr 9. 18403759 (Full Text)


High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.
Coop G, Wen X, Ober C, Pritchard JK, Przeworski M
(2008 Mar) Science. 2008 Mar 7;319(5868):1395-8. doi: 10.1126/science.1151851. Epub 2008 Jan 31. 18239090


Allele-specific targeting of microRNAs to HLA-G and risk of asthma.
Tan Z, Randall G, Fan J, Camoretti-Mercado B, Brockman-Schneider R, Pan L, Solway J, Gern JE, Lemanske RF, Nicolae D, Ober C
(2007 Oct) Am J Hum Genet. 2007 Oct;81(4):829-34. Epub 2007 Aug 20. 17847008 (Full Text)


The sex-specific genetic architecture of quantitative traits in humans.
Weiss LA, Pan L, Abney M, Ober C
(2006 Feb) Nat Genet. 2006 Feb;38(2):218-22. Epub 2006 Jan 22. 16429159


Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21.
Nicolae D, Cox NJ, Lester LA, Schneider D, Tan Z, Billstrand C, Kuldanek S, Donfack J, Kogut P, Patel NM, Goodenbour J, Howard T, Wolf R, Koppelman GH, White SR, Parry R, Postma DS, Meyers D, Bleecker ER, Hunt JS, Solway J, Ober C
(2005 Feb) Am J Hum Genet. 2005 Feb;76(2):349-57. Epub 2004 Dec 20. 15611928 (Full Text)


Paternally inherited HLA alleles are associated with women's choice of male odor.
Jacob S, McClintock MK, Zelano B, Ober C
(2002 Feb) Nat Genet. 2002 Feb;30(2):175-9. Epub 2002 Jan 22. 11799397


Mononuclear-cell immunisation in prevention of recurrent miscarriages: a randomised trial.
Ober C, Karrison T, Odem RR, Barnes RB, Branch DW, Stephenson MD, Baron B, Walker MA, Scott JR, Schreiber JR
(1999 Jul) Lancet. 1999 Jul 31;354(9176):365-9. 10437864