Chin-To Fong

Publications (3)9.03 Total impact

• Article: Candidate gene linkage approach to Identify DNA variants that predispose to preterm birth.

  Elise N A Bream, Cara R Leppellere, Margaret E Cooper, John M Dagle, David C Merrill, Kaare Christensen, Hyagriv N Simhan, Chin-To Fong, Mikko Hallman, Louis J Muglia, Mary L Marazita, Jeffrey C Murray
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  ABSTRACT: Background:To identify genetic variants contributing to preterm birth using a linkage candidate gene approach.Methods:We studied 99 single nucleotide polymorphisms for 33 genes in 257 families with preterm births segregating. Nonparametric and parametric analyses were used. Premature infants and mothers of premature infants were defined as affected cases in independent analyses.Results:Analyses with the infant as the case identified two genes with evidence of linkage: CRHR1 (p=0.0012) and CYP2E1 (p=0.0011). Analyses with the mother as the case identified four genes with evidence of linkage: ENPP1 (p=0.003), IGFBP3 (p=0.006), DHCR7 (p=0.009), and TRAF2 (p=0.01). DNA sequence analysis of the coding exons and splice sites for CRHR1 and TRAF2 identified no new likely etiologic variants.Conclusion:These findings suggest the involvement of six genes acting through the infant and/or the mother in the etiology of preterm birth.Pediatric Research (2012); doi:10.1038/pr.2012.166.
  Pediatric Research 11/2012; · 2.70 Impact Factor
• Article: Replication of a genome-wide association study of birth weight in preterm neonates.

  Kelli K Ryckman, Bjarke Feenstra, John R Shaffer, Elise N A Bream, Frank Geller, Eleanor Feingold, Daniel E Weeks, Enrique Gadow, Viviana Cosentino, Cesar Saleme, [......], Heather Boyd, Cathy C Laurie, David Crosslin, Qi Zhang, Kimberly F Doheny, Elizabeth Pugh, Mads Melbye, Mary L Marazita, John M Dagle, Jeffrey C Murray
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  ABSTRACT: To examine associations between rs9883204 in ADCY5 and rs900400 near LEKR1 and CCNL1 with birth weight in a preterm population. Both markers were associated with birth weight in a term population in a recent genome-wide association study of Freathy et al. A meta-analysis of mother and infant samples was performed for associations of rs900400 and rs9883204 with birth weight in 393 families from the US, 265 families from Argentina, and 735 mother-infant pairs from Denmark. Z-scores adjusted for infant sex and gestational age were generated for each population separately and regressed on allele counts. Association evidence was combined across sites by inverse-variance weighted meta-analysis. Each additional C allele of rs900400 (LEKR1/CCNL1) in infants was marginally associated with a 0.069 SD lower birth weight (95% CI, -0.159 to 0.022; P = .068). This result was slightly more pronounced after adjusting for smoking (P = .036). No significant associations were identified with rs9883204 or in maternal samples. These results indicate the potential importance of this marker on birth weight regardless of gestational age.
  The Journal of pediatrics 08/2011; 160(1):19-24.e4. · 4.02 Impact Factor
• Article: Single-nucleotide polymorphisms in the KCNN3 gene associate with preterm birth.

  Lori J Day, Kendra L Schaa, Kelli K Ryckman, Meg Cooper, John M Dagle, Chin-To Fong, Hyagriv N Simhan, David C Merrill, Mary L Marazita, Jeffrey C Murray, Sarah K England
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  ABSTRACT: The objectives were to determine whether single-nucleotide polymorphisms (SNPs) in KCNN3 (encodes the small conductance calcium-activated potassium channel subfamily N, member 3), associate with preterm birth (PTB). In all, 602 preterm families with at least 1 preterm (<37 weeks gestation) infant were studied: DNA from the infant and one or both parents were genotyped for 16 SNPs in KCNN3. A region of interest within KCNN3 was sequenced in 512 Caucasian non-Hispanic mothers (412 with preterm deliveries;100 who delivered at term). Family-based association testing was used for genotyping analysis; Fisher exact test was used for sequencing analysis. Six SNPs (rs1218585, rs4845396, rs12058931, rs1218568, rs6426985, and rs4845394) were associated with PTB (all Ps < .05). These variations were all located within the intronic region between exons 1 and 2. Maternal sequencing revealed an association of 3 SNPs with spontaneous PTB; rs1218585 (P = .007), rs1218584 (P = .05), and a novel SNP at chromosome1:153099353 (P = .02). Polymorphisms in KCNN3 are associated with PTB and investigation into the functional significance of these allelic changes is warranted.
  Reproductive sciences (Thousand Oaks, Calif.) 02/2011; 18(3):286-95. · 2.31 Impact Factor