Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study
Two common MTHFR gene polymorphisms (C677T and A1298C) have been implicated in the etiology of nonsyndromic cleft lip/palate (nsCL/P). To investigate the genotype association among nsCL/P in the Turkish population, 56 case-parent trios were recruited into the study. Genotype frequencies were...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2012-12-01
|
| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1698 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850024131406331904 |
|---|---|
| author | Aida Semiç-Jusufagiç Rıfat Bircan Özhan Çelebiler Melike Erdim Nurten Akarsu Nursel H Elçioğlu |
| author_facet | Aida Semiç-Jusufagiç Rıfat Bircan Özhan Çelebiler Melike Erdim Nurten Akarsu Nursel H Elçioğlu |
| author_sort | Aida Semiç-Jusufagiç |
| collection | DOAJ |
| description |
Two common MTHFR gene polymorphisms (C677T and A1298C) have been implicated in the etiology of nonsyndromic cleft lip/palate (nsCL/P). To investigate the genotype association among nsCL/P in the Turkish population, 56 case-parent trios were recruited into the study. Genotype frequencies were compared to two groups of controls from the same population. A total of 46 case-parent trios were included in transmission disequilibrium test (TDT) analysis. The mothers of the study group had a higher frequency of 677TT genotype, with a three-fold increased risk of having nsCL/P offspring (odds ratio [OR]: 3.14, p=0.03). The combined 677CT/1298AC genotype was also common among these mothers (28%), but it did not reach statistical significance (OR: 2.27, p=0.07). TDT analysis for (C677T) T allele transmission did not reveal a significant association. In conclusion, mothers carrying 677TT genotype or with 677CT/1298AC combined genotype have increased risk of having nsCL/P offspring; therefore, higher periconceptional folic acid supplementation should be advised for decreasing the recurrence risk.
|
| format | Article |
| id | doaj-art-8ad7e240316e42ef92ee1f8327cd652c |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2012-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-8ad7e240316e42ef92ee1f8327cd652c2025-08-20T03:01:11ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212012-12-01546Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent studyAida Semiç-Jusufagiç0Rıfat BircanÖzhan ÇelebilerMelike ErdimNurten AkarsuNursel H ElçioğluDepartment of Pediatric Genetics, Marmara University Faculty of Medicine, İstanbul. nelcioglu1@yahoo.com. Two common MTHFR gene polymorphisms (C677T and A1298C) have been implicated in the etiology of nonsyndromic cleft lip/palate (nsCL/P). To investigate the genotype association among nsCL/P in the Turkish population, 56 case-parent trios were recruited into the study. Genotype frequencies were compared to two groups of controls from the same population. A total of 46 case-parent trios were included in transmission disequilibrium test (TDT) analysis. The mothers of the study group had a higher frequency of 677TT genotype, with a three-fold increased risk of having nsCL/P offspring (odds ratio [OR]: 3.14, p=0.03). The combined 677CT/1298AC genotype was also common among these mothers (28%), but it did not reach statistical significance (OR: 2.27, p=0.07). TDT analysis for (C677T) T allele transmission did not reveal a significant association. In conclusion, mothers carrying 677TT genotype or with 677CT/1298AC combined genotype have increased risk of having nsCL/P offspring; therefore, higher periconceptional folic acid supplementation should be advised for decreasing the recurrence risk. https://turkjpediatr.org/article/view/1698 |
| spellingShingle | Aida Semiç-Jusufagiç Rıfat Bircan Özhan Çelebiler Melike Erdim Nurten Akarsu Nursel H Elçioğlu Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study The Turkish Journal of Pediatrics |
| title | Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study |
| title_full | Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study |
| title_fullStr | Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study |
| title_full_unstemmed | Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study |
| title_short | Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study |
| title_sort | association between c677t and a1298c mthfr gene polymorphism and nonsyndromic orofacial clefts in the turkish population a case parent study |
| url | https://turkjpediatr.org/article/view/1698 |
| work_keys_str_mv | AT aidasemicjusufagic associationbetweenc677tanda1298cmthfrgenepolymorphismandnonsyndromicorofacialcleftsintheturkishpopulationacaseparentstudy AT rıfatbircan associationbetweenc677tanda1298cmthfrgenepolymorphismandnonsyndromicorofacialcleftsintheturkishpopulationacaseparentstudy AT ozhancelebiler associationbetweenc677tanda1298cmthfrgenepolymorphismandnonsyndromicorofacialcleftsintheturkishpopulationacaseparentstudy AT melikeerdim associationbetweenc677tanda1298cmthfrgenepolymorphismandnonsyndromicorofacialcleftsintheturkishpopulationacaseparentstudy AT nurtenakarsu associationbetweenc677tanda1298cmthfrgenepolymorphismandnonsyndromicorofacialcleftsintheturkishpopulationacaseparentstudy AT nurselhelcioglu associationbetweenc677tanda1298cmthfrgenepolymorphismandnonsyndromicorofacialcleftsintheturkishpopulationacaseparentstudy |