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Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.
Am J Med Genet A 2003; 121A(3):219-24AJ

Abstract

Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated. In this study, the risk of being a DS case or having a DS child (case mother) was studied by multiple logistic regression analysis of the independent and combined genotypes and of plasma homocysteine, folates, and vitamin B12 in 92 DS cases and 140 control subjects as well as in 63 case mothers and 72 age-matched control mothers from Sicily. (The MTHFR 677 T allele frequency was not different in DS cases and case mothers, compared to the respective control groups). After adjustment for age, total homocysteine (t-Hcys) and MTR 2756 AG/GG genotype were significant risk factors for having a DS child, with odds ratio (OR) of 6.7 (95% CI: 1.4-32.0, P = 0.016) and of 3.5 (95% CI: 1.2-10.9, P = 0.028), respectively. By comparison, MTR 2756 AG/GG genotype increased significantly the risk of being a DS case, with an OR of 3.8 (95% CI: 1.4-10.5, P = 0.009). The double heterozygosity MTR 2756 AG/MTRR 66 AG was the single combined genotype that was a significant risk factor for having a DS child, with an OR estimated at 5.0 (95% CI: 1.1-24.1), after adjustment for t-Hcys. In conclusion, our results provide evidences that homocysteine and MTR genetic polymorphism are two potent risk factors for mothers to have a DS child in Sicily.

Authors+Show Affiliations

IRCCS, Oasi Maria S.S.--Institute for Research on Mental Retardation and Brain Aging, Troina (EN), Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

12923861

Citation

Bosco, Paolo, et al. "Methionine Synthase (MTR) 2756 (A --> G) Polymorphism, Double Heterozygosity Methionine Synthase 2756 AG/methionine Synthase Reductase (MTRR) 66 AG, and Elevated Homocysteinemia Are Three Risk Factors for Having a Child With Down Syndrome." American Journal of Medical Genetics. Part A, vol. 121A, no. 3, 2003, pp. 219-24.
Bosco P, Guéant-Rodriguez RM, Anello G, et al. Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. Am J Med Genet A. 2003;121A(3):219-24.
Bosco, P., Guéant-Rodriguez, R. M., Anello, G., Barone, C., Namour, F., Caraci, F., ... Guéant, J. L. (2003). Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. American Journal of Medical Genetics. Part A, 121A(3), pp. 219-24.
Bosco P, et al. Methionine Synthase (MTR) 2756 (A --> G) Polymorphism, Double Heterozygosity Methionine Synthase 2756 AG/methionine Synthase Reductase (MTRR) 66 AG, and Elevated Homocysteinemia Are Three Risk Factors for Having a Child With Down Syndrome. Am J Med Genet A. 2003 Sep 1;121A(3):219-24. PubMed PMID: 12923861.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. AU - Bosco,Paolo, AU - Guéant-Rodriguez,Rosa-Maria, AU - Anello,Guido, AU - Barone,Concetta, AU - Namour,Farès, AU - Caraci,Filippo, AU - Romano,Antonino, AU - Romano,Corrado, AU - Guéant,Jean-Louis, PY - 2003/8/19/pubmed PY - 2003/12/13/medline PY - 2003/8/19/entrez SP - 219 EP - 24 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 121A IS - 3 N2 - Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated. In this study, the risk of being a DS case or having a DS child (case mother) was studied by multiple logistic regression analysis of the independent and combined genotypes and of plasma homocysteine, folates, and vitamin B12 in 92 DS cases and 140 control subjects as well as in 63 case mothers and 72 age-matched control mothers from Sicily. (The MTHFR 677 T allele frequency was not different in DS cases and case mothers, compared to the respective control groups). After adjustment for age, total homocysteine (t-Hcys) and MTR 2756 AG/GG genotype were significant risk factors for having a DS child, with odds ratio (OR) of 6.7 (95% CI: 1.4-32.0, P = 0.016) and of 3.5 (95% CI: 1.2-10.9, P = 0.028), respectively. By comparison, MTR 2756 AG/GG genotype increased significantly the risk of being a DS case, with an OR of 3.8 (95% CI: 1.4-10.5, P = 0.009). The double heterozygosity MTR 2756 AG/MTRR 66 AG was the single combined genotype that was a significant risk factor for having a DS child, with an OR estimated at 5.0 (95% CI: 1.1-24.1), after adjustment for t-Hcys. In conclusion, our results provide evidences that homocysteine and MTR genetic polymorphism are two potent risk factors for mothers to have a DS child in Sicily. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/12923861/Methionine_synthase__MTR__2756__A___>_G__polymorphism_double_heterozygosity_methionine_synthase_2756_AG/methionine_synthase_reductase__MTRR__66_AG_and_elevated_homocysteinemia_are_three_risk_factors_for_having_a_child_with_Down_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.20234 DB - PRIME DP - Unbound Medicine ER -