Journal of clinical periodontology · 2025
Shared Genotypic Architectures of Stage III/IV Grade C Periodontitis Under 35 Years of Age (Former Aggressive Periodontitis) and Abnormal Root Morphology: A Family-Based Study.
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Guan Xiaoyuan, Li Xiaoyi, Chen Dafang, Xu Li, Li Wenjing, Lu Ruifang, Wang Xian'e, Meng Huanxin
Аннотация
AIM: To identify shared genetic architectures and molecular pathways underlying the frequent co-occurrence of stage III/IV grade C periodontitis under 35 years of age (PIII/IV-C< 35y) and abnormal root morphology (ARM), using a family-based SNP set and transcriptomic approach.
MATERIALS AND METHODS: We conducted a family-based study using whole-genome genotyping of 148 Han Chinese individuals from 52 families, including 52 probands, 35 mothers, 32 fathers and 29 siblings. The participants included 65 comorbidity cases, 29 PIII/IV-C< 35y-only cases, 27 ARM-only cases and 27 controls. Whole-genome genotyping and bi-clustering were used to identify SNP sets associated with each phenotype, and transcriptomic profiling was performed to validate gene expression changes.
RESULTS: Among 109 SNP sets, 91 (83.5%) showed ≥ 40% comorbidity risk. Fifty-four and 27 SNP sets were significantly associated with PIII/IV-C< 35y and ARM, respectively. Six genotype subnetworks were enriched for neural development and inflammation pathways, particularly IL-17 signalling. Transcriptome data confirmed down-regulation of KLHL29, HSF2 and COL13A1 in PIII/IV-C< 35y, and a reduction in GJA1 expression in comorbidity cases.
CONCLUSIONS: This study reveals a shared genetic architecture between PIII/IV-C< 35y and ARM, implicating neural development and inflammatory pathways in their co-occurrence. Key genes such as GJA1 may advance mechanistic understanding and support early identification of high-risk individuals.
MATERIALS AND METHODS: We conducted a family-based study using whole-genome genotyping of 148 Han Chinese individuals from 52 families, including 52 probands, 35 mothers, 32 fathers and 29 siblings. The participants included 65 comorbidity cases, 29 PIII/IV-C< 35y-only cases, 27 ARM-only cases and 27 controls. Whole-genome genotyping and bi-clustering were used to identify SNP sets associated with each phenotype, and transcriptomic profiling was performed to validate gene expression changes.
RESULTS: Among 109 SNP sets, 91 (83.5%) showed ≥ 40% comorbidity risk. Fifty-four and 27 SNP sets were significantly associated with PIII/IV-C< 35y and ARM, respectively. Six genotype subnetworks were enriched for neural development and inflammation pathways, particularly IL-17 signalling. Transcriptome data confirmed down-regulation of KLHL29, HSF2 and COL13A1 in PIII/IV-C< 35y, and a reduction in GJA1 expression in comorbidity cases.
CONCLUSIONS: This study reveals a shared genetic architecture between PIII/IV-C< 35y and ARM, implicating neural development and inflammatory pathways in their co-occurrence. Key genes such as GJA1 may advance mechanistic understanding and support early identification of high-risk individuals.