Congenital anomalies · 2026
The Suggestive Association Between the NOG rs227731 Polymorphism and Non-Syndromic Cleft Lip With or Without Palate Subtypes in a Japanese Cohort.
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Anh Le Kha, Thao Tran Phuong, Niimi Teruyuki, Suzuki Satoshi, Hayakawa Toko, Kitagawa Ken, Sakuma Chisato, Imura Hideto, Kondo Hisataka, Tu Nguyen Huu, Son Tong Minh, Ngoc Vo Truong Nhu, Loc Pham Nguyen Gia, Furukawa Hiroo, Natsume Nagana, Natsume Nagato
Аннотация
Non-syndromic cleft lip with or without palate (NSCL/P) ranks among the most prevalent congenital craniofacial anomalies globally. In Japan, reported rates of cleft lip and/or palate range from 1 in 500 to 1 in 700 live births. This study aims to explore potential sex-specific interactions of NOG rs227731 across NSCL/P subtypes in a Japanese population. This case-control study included 420 participants recruited from the Cleft Lip and Palate Centre at Aichi Gakuin Dental Hospital in Nagoya, Japan. The study population was divided into three groups: 110 individuals with non-syndromic cleft lip and palate (NSCLP), 110 with non-syndromic cleft lip only (NSCLO), and a control group of 200 unaffected individuals. A balanced 1:1 male-to-female ratio was maintained within each group to enhance the statistical power of sex-stratified analyses. There was no evidence about the association of rs227731 with NSCL/P and the NSCLP group in both gender clusters. In the NSCLO subgroup, a significant difference emerged in the allelic model among males (OR = 1.66, 95% CI: 1.03-2.69, p = 0.0385). Conversely, no significant associations were detected in females across any of the models. In conclusion, this study's findings suggest a possible association between the NOG rs227731 variant in males of NSCLO as an increasing risk factor.