MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non‐syndromic cleft lip and cleft palate in China

American Journal of Medical Genetics, Part A - Tập 152A Số 2 - Trang 291-298 - 2010
Jianghui Zhu1, Ling Hao1, Song Li1, Lynn B. Bailey2, Yihua Tian1, Li Zhu1
1National Reference Laboratory on Reproductive and Child Health, Ministry of Health, Peking University Health Science Center, Beijing, China
2Food Science and Human Nutrition Department, University of Florida, Gainesville, Florida

Tóm tắt

AbstractOur previous results indicated a moderate association between the methylenetetrahydrofolate reductase (MTHFR) gene 677C‐T variant and an increased risk of non‐syndromic cleft lip with or without cleft palate (nsCL/P) among the northern but not southern population in China, suggesting possible genetic heterogeneity in the etiology of nsCL/P between these two populations. It remains unknown whether the transforming growth factor alpha (TGFA) gene TaqI polymorphism and transforming growth factor beta 3 (TGFB3) gene CA repeats influence the risk of nsCL/P differently between the northern and southern Chinese populations. In this study of 188 Chinese case‐parent triads, we found an independent association between the TGFB3 variant and risk of nsCL/P (OR = 2.10, 95% CI: 1.25–3.54 for heterozygotes; OR = 1.78, 95% CI: 0.83–3.83 for homozygotes). The MTHFR variant was associated with an increased risk of nsCL/P among children in the north (OR = 3.11, 95% CI: 1.18–8.23 for heterozygotes; OR = 3.36, 95%CI: 1.14–9.93 for homozygotes) and appear to interact marginally with the TGFB3 variant in the occurrence of nsCL/P among southern subjects (OR = 0.26, 95% CI: 0.06–1.07). No association was found between the TGFA variant and risk of nsCL/P in our data. Our results suggest that the TGFB3 gene variant may be an important genetic risk factor for nsCL/P occurrence in Chinese children, and we found no evidence of heterogeneity between northern and southern Chinese populations in the associations between TGFB3 and TGFA variants and risk of nsCL/P, but these results warrant further investigation. © 2010 Wiley‐Liss, Inc.

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American Journal of Medical Genetics, Part A

Tập 152A Số 2

291-298

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