Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation

Young Ju Kim; Roger A. Williamson; Jeffrey C. Murray; Janet Andrews; Jorie J. Pietscher; Peter J. Peraud; David C. Merrill

doi:10.1067/mob.2001.110411

Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation

Young Ju Kim, Roger A. Williamson, Jeffrey C. Murray, Janet Andrews, Jorie J. Pietscher, Peter J. Peraud, David C. Merrill

Department of Obstetrics and Gynecology

Research output: Contribution to journal › Article › peer-review

87 Scopus citations

Abstract

OBJECTIVE: The purpose of this study was to evaluate the association between preeclampsia and 3 relatively common mutations that are important in the development of vascular disease and thrombosis; these are similar to conditions observed in pregnancies complicated by preeclampsia. STUDY DESIGN: Deoxyribonucleic acid was extracted from whole blood or cheek swabs of 281 patients with preeclampsia and 360 control subjects (all white). Control subjects consisted of women who had undergone at least 2 term pregnancies unaffected by preeclampsia. Mutation frequencies among patients with preeclampsia and control subjects were compared by standard χ² analysis, with P < .05 considered significant. RESULTS: Thirty-three of 281 women with preeclampsia (11.7%) and 22 of 193 women with severe preeclampsia (11.4%) were homozygous for cytosine-to-thymine substitution at nucleotide 677 in the gene for methyltetrahydrofolate reductase (MTHFR), versus 41 of 360 control subjects (11.4%; difference not significant). Forty of 258 women with preeclampsia (15.5%) and 22 of 175 women with severe preeclampsia (12.6%) were heterozygous for the insertion of 68 bases at position 844 in the gene for cystathionine β-synthase (CBS), versus 58 of 332 control subjects (17.5%). Fifteen of 250 women with preeclampsia (6.0%) and 11 of 169 with severe preeclampsia (6.5%) were heterozygous for the Leiden mutation (glycine-to-afanine substitution at nucleotide 1691) in the gene for factor V (F5), versus 12 of 253 control subjects (4.7%; difference not significant). CONCLUSION: In this white population a missense mutation of MTHFR, an insertion mutation of CBS, and a missense mutation of F5 were not found to be associated with an increased risk for preeclampsia, either independently or in combination.

Original language	English
Pages (from-to)	1211-1217
Number of pages	7
Journal	American Journal of Obstetrics and Gynecology
Volume	184
Issue number	6
DOIs	https://doi.org/10.1067/mob.2001.110411
State	Published - May 2001

Bibliographical note

Funding Information:
Supported by March of Dimes grant 6-FY97-0650 and National Institutes of Health grant HD-98-004.

Keywords

Cystathione β-synthase
Factor V Leiden
HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome
Methylenetetrahydrofolate reductase
Preeclampsia

Access to Document

10.1067/mob.2001.110411

Fingerprint

Dive into the research topics of 'Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation'. Together they form a unique fingerprint.

Cite this

Kim, Y. J., Williamson, R. A., Murray, J. C., Andrews, J., Pietscher, J. J., Peraud, P. J., & Merrill, D. C. (2001). Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation. American Journal of Obstetrics and Gynecology, 184(6), 1211-1217. https://doi.org/10.1067/mob.2001.110411

Kim, Young Ju ; Williamson, Roger A. ; Murray, Jeffrey C. et al. / Genetic susceptibility to preeclampsia : Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation. In: American Journal of Obstetrics and Gynecology. 2001 ; Vol. 184, No. 6. pp. 1211-1217.

@article{cb3f63d3064f4ebc98024eb923bb01f0,

title = "Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation",

abstract = "OBJECTIVE: The purpose of this study was to evaluate the association between preeclampsia and 3 relatively common mutations that are important in the development of vascular disease and thrombosis; these are similar to conditions observed in pregnancies complicated by preeclampsia. STUDY DESIGN: Deoxyribonucleic acid was extracted from whole blood or cheek swabs of 281 patients with preeclampsia and 360 control subjects (all white). Control subjects consisted of women who had undergone at least 2 term pregnancies unaffected by preeclampsia. Mutation frequencies among patients with preeclampsia and control subjects were compared by standard χ2 analysis, with P < .05 considered significant. RESULTS: Thirty-three of 281 women with preeclampsia (11.7%) and 22 of 193 women with severe preeclampsia (11.4%) were homozygous for cytosine-to-thymine substitution at nucleotide 677 in the gene for methyltetrahydrofolate reductase (MTHFR), versus 41 of 360 control subjects (11.4%; difference not significant). Forty of 258 women with preeclampsia (15.5%) and 22 of 175 women with severe preeclampsia (12.6%) were heterozygous for the insertion of 68 bases at position 844 in the gene for cystathionine β-synthase (CBS), versus 58 of 332 control subjects (17.5%). Fifteen of 250 women with preeclampsia (6.0%) and 11 of 169 with severe preeclampsia (6.5%) were heterozygous for the Leiden mutation (glycine-to-afanine substitution at nucleotide 1691) in the gene for factor V (F5), versus 12 of 253 control subjects (4.7%; difference not significant). CONCLUSION: In this white population a missense mutation of MTHFR, an insertion mutation of CBS, and a missense mutation of F5 were not found to be associated with an increased risk for preeclampsia, either independently or in combination.",

keywords = "Cystathione β-synthase, Factor V Leiden, HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome, Methylenetetrahydrofolate reductase, Preeclampsia",

author = "Kim, {Young Ju} and Williamson, {Roger A.} and Murray, {Jeffrey C.} and Janet Andrews and Pietscher, {Jorie J.} and Peraud, {Peter J.} and Merrill, {David C.}",

note = "Funding Information: Supported by March of Dimes grant 6-FY97-0650 and National Institutes of Health grant HD-98-004. ",

year = "2001",

month = may,

doi = "10.1067/mob.2001.110411",

language = "English",

volume = "184",

pages = "1211--1217",

journal = "American Journal of Obstetrics and Gynecology",

issn = "0002-9378",

publisher = "Mosby Inc.",

number = "6",

}

Kim, YJ, Williamson, RA, Murray, JC, Andrews, J, Pietscher, JJ, Peraud, PJ & Merrill, DC 2001, 'Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation', American Journal of Obstetrics and Gynecology, vol. 184, no. 6, pp. 1211-1217. https://doi.org/10.1067/mob.2001.110411

Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation. / Kim, Young Ju; Williamson, Roger A.; Murray, Jeffrey C. et al.
In: American Journal of Obstetrics and Gynecology, Vol. 184, No. 6, 05.2001, p. 1211-1217.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Genetic susceptibility to preeclampsia

T2 - Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation

AU - Kim, Young Ju

AU - Williamson, Roger A.

AU - Murray, Jeffrey C.

AU - Andrews, Janet

AU - Pietscher, Jorie J.

AU - Peraud, Peter J.

AU - Merrill, David C.

N1 - Funding Information: Supported by March of Dimes grant 6-FY97-0650 and National Institutes of Health grant HD-98-004.

PY - 2001/5

Y1 - 2001/5

N2 - OBJECTIVE: The purpose of this study was to evaluate the association between preeclampsia and 3 relatively common mutations that are important in the development of vascular disease and thrombosis; these are similar to conditions observed in pregnancies complicated by preeclampsia. STUDY DESIGN: Deoxyribonucleic acid was extracted from whole blood or cheek swabs of 281 patients with preeclampsia and 360 control subjects (all white). Control subjects consisted of women who had undergone at least 2 term pregnancies unaffected by preeclampsia. Mutation frequencies among patients with preeclampsia and control subjects were compared by standard χ2 analysis, with P < .05 considered significant. RESULTS: Thirty-three of 281 women with preeclampsia (11.7%) and 22 of 193 women with severe preeclampsia (11.4%) were homozygous for cytosine-to-thymine substitution at nucleotide 677 in the gene for methyltetrahydrofolate reductase (MTHFR), versus 41 of 360 control subjects (11.4%; difference not significant). Forty of 258 women with preeclampsia (15.5%) and 22 of 175 women with severe preeclampsia (12.6%) were heterozygous for the insertion of 68 bases at position 844 in the gene for cystathionine β-synthase (CBS), versus 58 of 332 control subjects (17.5%). Fifteen of 250 women with preeclampsia (6.0%) and 11 of 169 with severe preeclampsia (6.5%) were heterozygous for the Leiden mutation (glycine-to-afanine substitution at nucleotide 1691) in the gene for factor V (F5), versus 12 of 253 control subjects (4.7%; difference not significant). CONCLUSION: In this white population a missense mutation of MTHFR, an insertion mutation of CBS, and a missense mutation of F5 were not found to be associated with an increased risk for preeclampsia, either independently or in combination.

AB - OBJECTIVE: The purpose of this study was to evaluate the association between preeclampsia and 3 relatively common mutations that are important in the development of vascular disease and thrombosis; these are similar to conditions observed in pregnancies complicated by preeclampsia. STUDY DESIGN: Deoxyribonucleic acid was extracted from whole blood or cheek swabs of 281 patients with preeclampsia and 360 control subjects (all white). Control subjects consisted of women who had undergone at least 2 term pregnancies unaffected by preeclampsia. Mutation frequencies among patients with preeclampsia and control subjects were compared by standard χ2 analysis, with P < .05 considered significant. RESULTS: Thirty-three of 281 women with preeclampsia (11.7%) and 22 of 193 women with severe preeclampsia (11.4%) were homozygous for cytosine-to-thymine substitution at nucleotide 677 in the gene for methyltetrahydrofolate reductase (MTHFR), versus 41 of 360 control subjects (11.4%; difference not significant). Forty of 258 women with preeclampsia (15.5%) and 22 of 175 women with severe preeclampsia (12.6%) were heterozygous for the insertion of 68 bases at position 844 in the gene for cystathionine β-synthase (CBS), versus 58 of 332 control subjects (17.5%). Fifteen of 250 women with preeclampsia (6.0%) and 11 of 169 with severe preeclampsia (6.5%) were heterozygous for the Leiden mutation (glycine-to-afanine substitution at nucleotide 1691) in the gene for factor V (F5), versus 12 of 253 control subjects (4.7%; difference not significant). CONCLUSION: In this white population a missense mutation of MTHFR, an insertion mutation of CBS, and a missense mutation of F5 were not found to be associated with an increased risk for preeclampsia, either independently or in combination.

KW - Cystathione β-synthase

KW - Factor V Leiden

KW - HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome

KW - Methylenetetrahydrofolate reductase

KW - Preeclampsia

UR - http://www.scopus.com/inward/record.url?scp=0035340294&partnerID=8YFLogxK

U2 - 10.1067/mob.2001.110411

DO - 10.1067/mob.2001.110411

M3 - Article

C2 - 11349190

AN - SCOPUS:0035340294

SN - 0002-9378

VL - 184

SP - 1211

EP - 1217

JO - American Journal of Obstetrics and Gynecology

JF - American Journal of Obstetrics and Gynecology

IS - 6

ER -

Kim YJ, Williamson RA, Murray JC, Andrews J, Pietscher JJ, Peraud PJ et al. Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation. American Journal of Obstetrics and Gynecology. 2001 May;184(6):1211-1217. doi: 10.1067/mob.2001.110411