title: Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans.
abstract: Previous linkage analysis of an Asian population proposed possible candidate genes for mandibular prognathism, such as Matrilin-1 (cartilage matrix protein). To investigate the association between the single-nucleotide polymorphisms (SNPs) in Matrilin-1 and mandibular prognathism, we investigated three sequence variants (-158 T>C, 7987 G>A, 8572 C>T) in 164 mandibular prognathism patients and 132 control individuals with a normal occlusion. The results showed that the 8572 TT genotypes in Matrilin-1 showed increased risk of mandibular prognathism (OR = 9.28, 95% Cl = 1.19~197.57, P < 0.05), whereas the 7987 AA genotype showed a protective effect for mandibular prognathism (OR = 0.16, 95% Cl = 0.05~0.47, P < 0.05). Genotyping results showed that the Matrilin-1 polymorphism haplotype TGC (ht4; 158T, 7987G, and 8572C alleles) had a pronounced risk effect for mandibular prognathism compared with controls (OR = 5.16, 95% Cl = 2.03~13.93, P < 0.01). The results suggest that polymorphisms in Matrilin-1 could be used as a marker for genetic susceptibility to mandibular prognathism.
authors.affiliation: Department of Oral & Maxillofacial Surgery, School of Dentistry, Kyungpook National University, Samduck 2 Ga, Jung Gu, Daegu, 700-412, Korea.
authors.forename: J Y
authors.initials: JY
authors.lastname: Jang
authors.forename: E K
authors.initials: EK
authors.lastname: Park
authors.forename: H M
authors.initials: HM
authors.lastname: Ryoo
authors.forename: H I
authors.initials: HI
authors.lastname: Shin
authors.forename: T H
authors.initials: TH
authors.lastname: Kim
authors.forename: J S
authors.initials: JS
authors.lastname: Jang
authors.forename: H S
authors.initials: HS
authors.lastname: Park
authors.forename: J Y
authors.initials: JY
authors.lastname: Choi
authors.forename: T G
authors.initials: TG
authors.lastname: Kwon
mesh_terms: D000225:Adenine; D000328:Adult; D064236:Cartilage Oligomeric Matrix Protein; D016022:Case-Control Studies; D003596:Cytosine; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006147:Guanine; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007723:Korea; D008297:Male; D064235:Matrilin Proteins; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011378:Prognathism / Q000209:etiology* / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D012307:Risk Factors; D013941:Thymine; D055815:Young Adult
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D006023:Glycoproteins; C577539:MATN1 protein, human; D064235:Matrilin Proteins; C577553:TSP5 protein, human; D006147:Guanine; D003596:Cytosine; D000225:Adenine; D013941:Thymine