openSNP | rs4988235

Links to SNPedia

Title	Summary
rs4988235 C/C	Likely to be lactose intolerant as an adult
rs4988235 C/T	Likely to be able to digest milk as an adult
rs4988235 T/T	Can digest milk

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Kshitij Wagh	Lactase Persistence and Lipid Pathway Selection in the Maasai	2012	8537
Elisa Alonso-Perez	Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure	2011	4944
Kaisa Silander	Gender Differences in Genetic Risk Profiles for Cardiovascular Disease	2008	11428
Paola Raska	European American Stratification in Ovarian Cancer Case Control Data: The Utility of Genome-Wide Data for Inferring Ancestry	2012	2138
Deise C. Friedrich	Several Different Lactase Persistence Associated Alleles and High Diversity of the Lactase Gene in the Admixed Brazilian Population	2012	5430
Sarah J. Lewis	Fetal Alcohol Exposure and IQ at Age 8: Evidence from a Population-Based Birth-Cohort Study	2012	35421
Lori B. Chibnik	Genetic Risk Score Predicting Risk of Rheumatoid Arthritis Phenotypes and Age of Symptom Onset	2011	4578
Elisa Alonso-Perez	Further Evidence of Subphenotype Association with Systemic Lupus Erythematosus Susceptibility Loci: A European Cases Only Study	2012	3326
Benjamin M. Peter	Distinguishing between Selective Sweeps from Standing Variation and from a De Novo Mutation	2012	16108
Michael N Weedon	Combining Information from Common Type 2 Diabetes Risk Polymorphisms Improves Disease Prediction	2006	12968
Roy Ronen	Predicting Carriers of Ongoing Selective Sweeps without Knowledge of the Favored Allele	2015	2976
Henryk W. Witas	Hunting for the LCT-13910*T Allele between the Middle Neolithic and the Middle Ages Suggests Its Absence in Dairying LBK People Entering the Kuyavia Region in the 8th Millennium BP	2015	3800
Karina Gonzalez-Aldaco	Association with Spontaneous Hepatitis C Viral Clearance and Genetic Differentiation of IL28B/IFNL4 Haplotypes in Populations from Mexico	2016	2584
Rui Martiniano	The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods	2017	11883
Hakhamanesh Mostafavi	Identifying genetic variants that affect viability in large cohorts	2017	36440
Vanesa Bellou	Risk factors for type 2 diabetes mellitus: An exposure-wide umbrella review of meta-analyses	2018	1419

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Dolores Corella	Association of the LCT-13910C>T polymorphism with obesity and its modulation by dairy products in a Mediterranean population.	2011	5	10.1038/oby.2010.320
Bryony L Jones	Diversity of lactase persistence alleles in ethiopia: signature of a soft selective sweep.	2013	5	10.1016/j.ajhg.2013.07.008
Evelyne Heyer	Lactase persistence in central Asia: phenotype, genotype, and evolution.	2011	7	10.3378/027.083.0304
Mikael Truedsson	Polymorphism in the oxytocin promoter region in patients with lactase non-persistence is not related to symptoms.	2009	5	10.1186/1471-230X-9-90
Ruth C Travis	Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition.	2013	3	10.1002/ijc.27836
Nicholas J Timpson	Can lactase persistence genotype be used to reassess the relationship between renal cell carcinoma and milk drinking? Potentials and problems in the application of Mendelian randomization.	2010	5	-
Adil J Malek	Associations of the lactase persistence allele and lactose intake with body composition among multiethnic children.	2013	1	10.1007/s12263-013-0335-9
Nicholas J Timpson	Can lactase persistence genotype be used to reassess the relationship between renal cell carcinoma and milk drinking? Potentials and problems in the application of Mendelian randomization.	2010	6	10.1158/1055-9965.EPI-09-1019
Marika M L Laaksonen	Genetic lactase non-persistence, consumption of milk products and intakes of milk nutrients in Finns from childhood to young adulthood.	2009	3	10.1017/S0007114508184677
Marika M L Laaksonen	Genetic lactase non-persistence, consumption of milk products and intakes of milk nutrients in Finns from childhood to young adulthood.	2009	1	-
Ya-Ping Zhang	Lactase persistence may have an independent origin in Tibetan populations from Tibet, China	2012	1	10.1038/jhg.2012.41
Dolores Corella	Association of the LCT-13910C>T polymorphism with obesity and its modulation by dairy products in a Mediterranean population.	2011	5	10.1038/oby.2010.320
Johannes Kettunen	European lactase persistence genotype shows evidence of association with increase in body mass index.	2010	13	10.1093/hmg/ddp561
Edyta Mądry	Adult-type hypolactasia and lactose malabsorption in Poland.	2010	1
Amel Lamri	The lactase persistence genotype is associated with body mass index and dairy consumption in the D.E.S.I.R. study.	2013	2	10.1016/j.metabol.2013.04.006
Allan Linneberg	Association between loss-of-function mutations in the filaggrin gene and self-reported food allergy and alcohol sensitivity	2013	7	10.1159/000345949
Adil J Malek	Associations of the lactase persistence allele and lactose intake with body composition among multiethnic children.	2013	1	10.1007/s12263-013-0335-9
George Davey Smith	Lactase persistence-related genetic variant: population substructure and health outcomes.	2009	21	10.1038/ejhg.2008.156
Terho Lehtimäki	Adult-type hypolactasia is not a predisposing factor for the early functional and structural changes of atherosclerosis: the Cardiovascular Risk in Young Finns Study.	2008	2	-
Monica Mottes	Genetic testing for adult-type hypolactasia in Italian families.	2008	3	-
W Nadia H Koek	The T-13910C polymorphism in the lactase phlorizin hydrolase gene is associated with differences in serum calcium levels and calcium intake.	2010	2	10.1002/jbmr.83
Adil J Malek	Associations of the lactase persistence allele and lactose intake with body composition among multiethnic children.	2013	1	10.1007/s12263-013-0335-9
Ruth C Travis	Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition.	2012	2	10.1002/ijc.27836
Terho Lehtimäki	Adult-type hypolactasia is not a predisposing factor for the early functional and structural changes of atherosclerosis: the Cardiovascular Risk in Young Finns Study.	2008	3	10.1042/CS20070360
Eugenia Morales	The European lactase persistence genotype determines the lactase persistence state and correlates with gastrointestinal symptoms in the Hispanic and Amerindian Chilean population: a case-control and population-based study.	2011	2	10.1136/bmjopen-2011-000125
Ruth C Travis	Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition.	2012	3	10.1002/ijc.27836
R C Travis	Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition	2012	1	10.1002/ijc.27836
Amel Lamri	The lactase persistence genotype is associated with body mass index and dairy consumption in the D.E.S.I.R. study.	2013	2	10.1016/j.metabol.2013.04.006
Allan Linneberg	Association between Loss-of-Function Mutations in the Filaggrin Gene and Self-Reported Food Allergy and Alcohol Sensitivity.	2013	6	10.1159/000345949
Allan Linneberg	Association between Loss-of-Function Mutations in the Filaggrin Gene and Self-Reported Food Allergy and Alcohol Sensitivity.	2013	4	10.1159/000345949
Deborah J Nolan	Genetic adult lactase persistence is associated with risk of Crohn's Disease in a New Zealand population	2010	2	10.1186/1756-0500-3-339
W Nadia H Koek	The T-13910C polymorphism in the lactase phlorizin hydrolase gene is associated with differences in serum calcium levels and calcium intake.	2010	1	-
Monica Mottes	Genetic testing for adult-type hypolactasia in Italian families.	2008	4	10.1515/CCLM.2008.189
Evelyne Heyer	Lactase persistence in central Asia: phenotype, genotype, and evolution.	2011	7	10.3378/027.083.0304
Edyta Mądry	Adult-type hypolactasia and lactose malabsorption in Poland.	2010	2
Pontus Skoglund	Stronger signal of recent selection for lactase persistence in Maasai than in Europeans	2012	2	10.1038/ejhg.2012.199
E. Morales	The European lactase persistence genotype determines the lactase persistence state and correlates with gastrointestinal symptoms in the Hispanic and Amerindian Chilean population: a case-control and population-based study	2011	8	10.1136/bmjopen-2011-000125
Amel Lamri	The lactase persistence genotype is associated with body mass index and dairy consumption in the D.E.S.I.R. study	2013	7	10.1016/j.metabol.2013.04.006
George Davey Smith	Lactase persistence-related genetic variant: population substructure and health outcomes	2009	19	10.1038/ejhg.2008.156
Min-Sheng Peng	Lactase persistence may have an independent origin in Tibetan populations from Tibet, China.	2012	1	10.1038/jhg.2012.41
Johannes Kettunen	European lactase persistence genotype shows evidence of association with increase in body mass index	2010	10	10.1093/hmg/ddp561

Evidence compiled by the Personal Genome Project

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Publications listed by Genome.gov

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Name	rs4988235
Chromosome	2
Position	135851076
Weight of evidence	88

SNP rs4988235

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

Contacts