Variable contribution of the <i>MTHFR</i> C677T polymorphism to non‐syndromic cleft lip and palate risk in China

Zhu, Jiang; Ren, Aiguo; Lü, Hao; Li, Pei; Liu, Jian Meng; Zhu, Hui; Li, Song; Finnell, Richard H.; Zhu, Li

doi:10.1002/ajmg.a.31115

Cited by 44 publications

(34 citation statements)

References 26 publications

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“…In this investigation, subjects were enrolled from south-central China. The frequency of the TT genotype and the T-allele are 14.3% and 39.2%, respectively, which is comparable to a previous study from this region in China [21]. The high prevalence of the T-allele and the TT genotype in our Chinese population indicates that population attributable risk due to the MTHFR C677T polymorphism may be relatively greater than that seen in many previously reported studies.…”

Section: Discussionsupporting

confidence: 78%

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Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women

Hong

Hsu

Terwedow

et al. 2007

Bone

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Osteoporotic fractures are a leading cause of disability and, indirectly, of death in the elderly population. Previous studies have shown that homocysteine level and the C677T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR) may be involved in the development of osteoporosis and its related fracture in European populations. The aim of this study was to verify the association of this polymorphism with bone mineral density (BMD) and fractures in our 1899 Chinese postmenopausal women. The C677T T-allele frequency in this population was 39.2%. The distribution of the MTHFR genotypes followed the Hardy-Weinberg equilibrium. BMD at total body, total hip or femoral neck did not significantly vary with MTHFR C677T genotype. The T-allele carrier tended to have higher risk of having osteoporosis or osteopenia, but the difference was statistically insignificant. However, Poisson regression analysis revealed that the T-allele carriers had an increased risk of fractures (RR=1.7, 95%CI=1.1-2.7, p=0.01) which occurred before or after menopause. As far as fracture incidence after menopause was concerned, the CT or TT genotype had more than twice the risk of the CC genotype (RR=2.5, 95%CI=1.2-4.9, P=0.009). This association was independent of age, physical activity, occupation, passive smoking, height, weight, years since menopause, and total hip BMD.Our data show that the MTHFR C677T polymorphism is an independent predictor of fracture risk, although it only had a weak effect on BMD. Further study on the mechanistic role that this polymorphism plays in the development of fractures may lead to better understanding of the etiology of osteoporotic fracture.

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Section: Discussionsupporting

confidence: 78%

“…A north-to-south increase of allele 677T prevalence has been observed in Europe [20]. In contrast, a north-to-south decrease of TT genotype was reported in China [21]. More interestingly, the distribution of the MTHFR genotype may modify it's effect on the plasma homocysteine [17].…”

Section: Discussionmentioning

confidence: 99%

Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women

Hong

Hsu

Terwedow

et al. 2007

Bone

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“…An increased risk due to the maternal MTHFR genotype (677 T or 1282A alleles) on predisposition to CL/P was suggested by several studies [14,93,94,95,96]. In a recent study from china reports moderate association between the 677C-T polymorphism and non_syndromic cleft lip/palate in families from northern China but not in those from southern China suggesting the genetic heterogeneity [97]. In case and control studies false associations may also occur due to population stratification [98].…”

Section: Association Studiesmentioning

confidence: 99%

Molecular Genetics of Non-Syndromic Clefts Revisited

Rajasekhar¹,

Lakkakula²,

KS³

2011

Int J Genet

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Cleft of the lip and palate (CL/P) are generally divided in to two groups, isolated cleft palate and cleft with or without cleft palate representing a heterogeneous group of disorders affecting the upper lip and the roof the mouth. Non-syndromic cleft lip and palate incidence is 1 in 700 to 1000 live babies with ethnic and geographic variations. Various independent association and linkage studies using different populations have identified several loci. Numerous genes have been reported in studies demonstration associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factor, growth factor, cell signalling and detoxification metabolisms. Currently, efforts are focussed to identify the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype. In conclusion, the genetic basis of CL/P is still contentious because of genetic complexity of clefting.

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“…Two single nucleotide polymorphisms (SNPs) in MTHFR, 677C-T (exon 4) and 1298A-C (exon 7) are associated with decreased enzyme activity [8]. Few studies have investigated the association between MTHFR genotypes and the risk of development of congenital anomalies including Down syndrome, oral clefts, urogenital anomalies and limb defects [9,10].…”

Section: Introductionmentioning

confidence: 99%

Genetic Variants in the Methylenetetrahydrofolate Reductase Gene in Egyptian Children with Conotruncal Heart Defects and their Mothers

Kotby

Anwar

Elmasry

et al. 2012

Macedonian Journal of Medical Sciences

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Aim: This study aimed at evaluation of MTHFR 677C/T and 1298A/C polymorphisms in MTHFR gene as maternal risk factors in conotruncal heart defects (CTDs). Material and Methods:Thirty cases with CTDs and their mothers and thirty control children and their mothers were studied. Medical and nutritional histories for all mothers were taken with emphasis on folate intake. The mutations in MTHFR gene are a C to T substitution at base pair 677 and a A to C at base pair1298 were investigated by polymerase-chain reaction, followed by restriction enzyme digestion and detection by electrophoresis.Results: Folic acid intake was below the recommended daily allowance in case mothers compared to control mothers. No significant difference between patients and control group or their mothers regarding MTHFR gene polymorphisms at exon 4. Significant difference between case and control groups and between their mothers regarding MTHFR gene polymorphisms at exon 7. Homozygous genotype frequencies of MTHFR at position 1298 was significantly higher in cases and their mothers with an odds ratio 56 (95% confidence interval 10.3-303.7).Conclusion: Egyptian population may have high incidence of MTHFR polymorphism at exon 7 rather than at exon 4. Preconception folate intake might decrease MTHFR polymorphism at exon 7 and decrease risk of CTD.

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Variable contribution of the MTHFR C677T polymorphism to non‐syndromic cleft lip and palate risk in China

Cited by 44 publications

References 26 publications

Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women

Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women

Molecular Genetics of Non-Syndromic Clefts Revisited

Genetic Variants in the Methylenetetrahydrofolate Reductase Gene in Egyptian Children with Conotruncal Heart Defects and their Mothers

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