+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate

, : IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate. Journal of Dental Research 94(9 Suppl): 226s-232s

Nonsyndromic cleft lip with or without palate (CL/P) is thought to be caused by the interplay of genetic and environmental factors, and this has thus hindered the process of identifying genetic causative factors. Numerous studies in the past decade have implicated IRF6 in CL/P, but this has not often been replicated in other populations. In specific, the only etiologic single-nucleotide polymorphism (SNP) identified in the IRF6 locus (rs642961) has recently been shown not to be associated with CL/P in diverse populations. We therefore used a genewide tagging SNP (tagSNP) haplotyping approach (including rs642961 as a tagSNP) to detect all potential risk-conferring haplotypes and combined this with detailed subphenotyping of CL/P cases (N = 150) according to severity. We observed a significant overrepresentation of a tagSNP haplotype carrying the rs642961 risk allele in the most severe subphenotype of CL/P (complete bilateral CL/P; P = 0.008, odds ratio = 4.97, 95% confidence interval = 1.33 to 18.46). It was recently shown that >80% of IRF6 mutations in syndromic CL/P occur on the same haplotype background. We therefore suggest that IRF6 is a marker of CL/P severity.


PMID: 25896061

DOI: 10.1177/0022034515581013

Other references

Cheng, L.; Esch, F.S.; Marchionni, M.A.; Mudge, A.W., 1998: Control of Schwann cell survival and proliferation: autocrine factors and neuregulins. Postnatal rat Schwann cells secrete factors that prevent the programmed cell death (PCD) of low-density Schwann cells in serum-free culture. These autocrine survival signal(s) do not promote Schwann cell proliferation. Moreover, while NRG and bFGF...

Ungar Waron H.; Waron M.; Gluckman A.; Trainin Z., 1985: Rheumatoid factors in natural retrovirus infection of cats and cattle. Milgrom, F , C J Abeyounis And B Albini (Ed ) Antibodies: Protective, Destructive And Regulatory Role; 9th International Convocation on Immunology, Amherst, N Y , Usa, June 25-28, 1984 Xiv+462p S Karger Ag: Basel, Switzerland; New York, N Y , Usa Illus 448

Lebedev, N.I., 1957: Increase efficiency in floating tree-length logs.. Analyses the costs (per cu.m. of wood handled) at several timber depots taking tree-length logs and assortments that had been floated. The advantages of floating tree-length logs are emphasized.

Esteban, G., 1993: A new genus of Mylodontinae from the Pleistocene of northwestern Argentina El Mollar, Tafi del Valle, Tucuman. Quaternary of South America and Antarctic Peninsula, 8: 29-37

Anderson, M.R.; Shapiro, J., 1955: Control of the gapeworm in the ring-necked pheasant in Connecticut. Pheasants showing symptoms should be isolated for treatment or disposal. Infected pens should be treated, brooder pens first, to eliminate them as a source of infection. Elimination of the earthworm, principal carrier of the gapeworm, may not comp...

Okewole, P.; Odeyemi, P.; Irokanulo, E.; Oyetunde, I.; Chima, J., 1989: Cholangiohepatitis and biliary fibrosis in a adult rabbit (Oryctolagus cuniculus) with Aeromonas hydrophila infection. Bulletin of animal health and production in Africa = Bulletin de la sante et de la production animales en Afrique 37(4): 395-396

Chayet, N.L., 1966: Malpractice--the statute of limitations. New England Journal of Medicine 275(1): 42-43

Szczeklik, E.; Bogdanikowa, B., 1962: Changes in the proteins and enzymes in liver cirrhosis. Polskie Archiwum Medycyny Wewnetrznej 32: 1399-1408

Baba S.; Kinoshita H.; Mori Y.; Suzuki K.; Shimada J.; Kawamura S.; Itabashi T.; Watanabe H.; Fujimaki Y.; E.A., 1987: Comparative study of ciprofloxacin bay o 9867 and norfloxacin in the treatment for acute lacunar tonsillitis. The clinical efficacy, safety and utility of Ciprofloxacin (CPFX) in the treatment of the patients with acute lacunar tonsillitis were compared with those of Norfloxacin (NFLX) in a double-blind study. Patients over 15 years old with acute lacunar...

Li, X.A.; Reiffel, L.; Chu, J.; Naqvi, S., 2001: Conformal photon-beam therapy with transverse magnetic fields: a Monte Carlo study. This work studies the idea of using strong transverse magnetic (B) fields with high-energy photon beams to enhance dose distributions for conformal radiotherapy. EGS4 Monte Carlo code is modified to incorporate charged particle transport in B fiel...