SAT-008 GENETIC VARIANTS OF THE COL4A5, COL4A4 AND COL4A3 GENES IN CHINESE CHILDREN WITH FAMILIAL HEMATURIA

Background: Doublecortin domain-containing 2 (DCDC2) is a doublecortin domain-containing gene family member and the doublecortin domain has been demonstrated to bind to tubulin and enhance microtubule polymerization. It has been associated with developmental dyslexia and this protein family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Objectives: The objective of the study is to find out if there is any association of genetic variants of DCDC2 with developmental dyslexia in Chinese children from Hong Kong. Methods: The dyslexic children were diagnosed as developmental dyslexia (DD) using the Hong Kong Test of Specific Learning Difficulties in Reading and Writing (HKT-SpLD) by the Department of Health, Hong Kong. Saliva specimens were collected and their genotypes of DCDC2 were studied by DNA sequencing or TaqMan Real Time PCR Assays. Results: The most significant marker is rs6940827 which is associated with DD with nominal p-value (0.011). However, this marker did not remain significant after multiple testing corrections and the adjusted p-value from permutation test was 0.1329. Using sliding window haplotype analysis, several haplotypes were found to be nominally associated with DD. The smallest nominal p values was 0.0036 (rs2996452-rs1318700, C-A). However, none of the p values could withstand the multiple testing corrections. Conclusion: Despite early findings that DCDC2 is a strong candidate for developmental dyslexia and that some of the genetic variants have been linked to brain structure and functions, our findings showed that DCDC2 is not strongly associated with dyslexia.

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Molecular diagnosis for growth hormone deficiency in Chinese children and adolescents and evaluation of impact of rare genetic variants on treatment efficacy of growth hormone

Clinica Chimica Acta ◽

10.1016/j.cca.2021.11.021 ◽

2021 ◽

Author(s):

Dongye He ◽

Yanying Li ◽

Wanling Yang ◽

Shuxiong Chen ◽

Hailing Sun ◽

...

Keyword(s):

Growth Hormone ◽

Children And Adolescents ◽

Growth Hormone Deficiency ◽

Molecular Diagnosis ◽

Genetic Variants ◽

Treatment Efficacy ◽

Chinese Children ◽

Hormone Deficiency ◽

Rare Genetic Variants ◽

Chinese Children And Adolescents

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The Gene-Gene Interaction of INSIG-SCAP-SREBP Pathway on the Risk of Obesity in Chinese Children

BioMed Research International ◽

10.1155/2014/538564 ◽

2014 ◽

Vol 2014 ◽

pp. 1-8 ◽

Cited By ~ 4

Author(s):

Fang-Hong Liu ◽

Jie-Yun Song ◽

Xiao-Rui Shang ◽

Xiang-Rui Meng ◽

Jun Ma ◽

...

Keyword(s):

Genetic Variants ◽

Protein Gene ◽

Risk Group ◽

Binding Protein ◽

Regulatory Element ◽

Chinese Children ◽

Increased Risk ◽

Element Binding Protein ◽

Sterol Regulatory Element ◽

Binding Protein Gene

Background.Childhood obesity has become a global public health problem in recent years. This study aimed to explore the association of genetic variants in INSIG-SCAP-SREBP pathway with obesity in Chinese children.Methods.A case-control study was conducted, including 705 obese cases and 1,325 nonobese controls. We genotyped 15 single nucleotide polymorphisms (SNPs) of five genes in INSIG-SCAP-SREBP pathway, including insulin induced gene 1 (INSIG1), insulin induced gene 2 (INSIG2), SREBP cleavage-activating protein gene (SCAP), sterol regulatory element binding protein gene 1 (SREBP1), and sterol regulatory element binding protein gene 2 (SREBP2). We used generalized multifactor dimensionality reduction (GMDR) and logistic regression to investigate gene-gene interactions.Results.Single polymorphism analyses showed thatSCAPrs12487736 and rs12490383 were nominally associated with obesity. We identified a 3-locus interaction on obesity in GMDR analyses(P=0.001), involving 3 genetic variants ofINSIG2,SCAP,andSREBP2. The individuals in high-risk group of the 3-locus combinations had a 79.9% increased risk of obesity compared with those in low-risk group (OR=1.799, 95% CI: 1.475–2.193,P=6.61×10-9).Conclusion.We identified interaction of three genes in INSIG-SCAP-SREBP pathway on risk of obesity, revealing that these genes affect obesity more likely through a complex interaction pattern than single gene effect.

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