[Relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphisms of MTHFR C677T and A1298C].
OBJECTIVE
To explore the relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphism of MTHFR C677T and A1298C in Chinese population.


METHODS
Case-control study design was employed. MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques (PCR-RFLP).


RESULTS
As to MTHFR C677T, 48 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 0. 02, P > 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 9.91, P < 0.05). As to MTHFR A1298C, 27 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 4.00, P < 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 4.42, P < 0.05).


CONCLUSIONS
The genetic polymorphism of MTHFR C677T is associated with the development of NSCL/P, and the genetic polymorphism of MTHFR A1298C is a risk factor for NSCL/P in the Chinese population.
Department of Plastic Surgery, Zhong Da Hospital Affiliated to Southeast University, Nanjing 210009, China.
Wei-dong
WD
Wan
Li-jun
LJ
Wang
Xiao-ping
XP
Zhou
De-lan
DL
Zhou
Qing-guo
QG
Zhang
Jin-long
JL
Huang
Xiao-ning
XN
Wang
D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002971:Cleft Lip / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic
D042965:Methylenetetrahydrofolate Reductase (NADPH2)