Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology · 2013
Associations between EYA1 single-nucleotide polymorphisms and non-syndromic orofacial clefts in Western Han Chinese.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Zeng Ni, Wu Jun, Zhu Wen-Chao, Ma Li, Jia Zhong-Lin, Shi Bing
Аннотация
BACKGROUND: Non-syndromic orofacial clefts (NSOC) are the most common craniofacial birth defects and are considered as complex and multifactorial diseases involving the interplay of genetic predisposition and environmental exposures. Recent studies demonstrated that EYA1, a member of eye absent gene family, might contribute to the development of orofacial clefts. This study aimed to evaluate the association between EYA1 gene polymorphism and NSOC in western Chinese population.
METHOD: Two single-nucleotide polymorphisms, rs13260349 and rs2380716, were investigated among 199 case-parent trios, and the linkage disequilibrium (LD) test, transmission disequilibrium test, family based association test, and haplotype analysis were performed.
RESULTS: Weak evidence of LD was found between these markers (D' = 0.573, r(2) = 0.218); allel C and genotype C/C at rs13260349 showed an overtransmission in CL/P; haplotype T-T (rs13260349-rs2380716) displayed an association with NSOC and CL/P.
CONCLUSIONS: The results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and NSOC.
METHOD: Two single-nucleotide polymorphisms, rs13260349 and rs2380716, were investigated among 199 case-parent trios, and the linkage disequilibrium (LD) test, transmission disequilibrium test, family based association test, and haplotype analysis were performed.
RESULTS: Weak evidence of LD was found between these markers (D' = 0.573, r(2) = 0.218); allel C and genotype C/C at rs13260349 showed an overtransmission in CL/P; haplotype T-T (rs13260349-rs2380716) displayed an association with NSOC and CL/P.
CONCLUSIONS: The results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and NSOC.
Предметные рубрики MeSH
AllelesChinaCleft LipCleft PalateCytosineEthnicityFemaleGene FrequencyGenotypeHaplotypesHeterozygoteHomozygoteHumansIntracellular Signaling Peptides and ProteinsIntronsLinkage DisequilibriumMaleNuclear ProteinsPolymorphism, Restriction Fragment LengthPolymorphism, Single NucleotideProtein Tyrosine PhosphatasesThymine