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Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: Is homocysteine a factor?

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Abstract

In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and SLC19A1 (RFC1) G80A genotypes from an eastern Indian cohort to investigate whether Hcy and other Hcy-pathway genes also contribute to the risk level. While MTHFR 677T and SLC19A1 80G are individually and cumulatively risk factors, SLC19A1 80A appears to be protective against MTHFR 677T risk allele. Elevated Hcy associates with NSCL±P both in case mothers and cases. Significantly, this difference shows a gender bias: the level of elevation of Hcy in female cases is distinctly higher than in males, and more case females are hyperhomocyteinemic than the case males. It implies that compared with the males, higher level of Hcy is needed for NSCL±P to manifest in the females. We consider this as one of the possible factors why the incidence of this disorder in females is much lower than in males.

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Acknowledgements

We record our appreciation to all the subjects for their willing help and the Department of Pediatrics, IMS, BHU for help in collecting control samples. We thank Dr Shantanu Sengupta, IGIB, Delhi, for his help with Hcy measurements in initial stages of the work. We are grateful to Department of Biotechnology, India, for funding and to the Council of Scientific and Industrial Research (CSIR) for the fellowship to PK.

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Authors and Affiliations

  1. Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, Varanasi, India

    Priyanka Kumari, Krishna K Sukla & Rajiva Raman

  2. Centre for Genetic Disorders, Banaras Hindu University, Varanasi, India

    Akhtar Ali & Rajiva Raman

  3. G. S. Memorial Plastic Surgery Hospital, Varanasi, India

    Subodh K Singh

Authors
  1. Priyanka Kumari
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  2. Akhtar Ali
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  3. Krishna K Sukla
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  4. Subodh K Singh
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  5. Rajiva Raman
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Corresponding author

Correspondence to Rajiva Raman.

Additional information

Corresponding editor: SARAH H ELSEA

MS received 14 November 2012; accepted 02 January 2013

Corresponding editor: Sarah H Elsea

[Kumari P, Ali A, Sukla KK, Singh SK and Raman R 2013 Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: Is homocysteine a factor? J. Biosci. 38 1–6] DOI 10.1007/s12038-013-9298-7

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Kumari, P., Ali, A., Sukla, K.K. et al. Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: Is homocysteine a factor?. J Biosci 38, 21–26 (2013). https://doi.org/10.1007/s12038-013-9298-7

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  • DOI: https://doi.org/10.1007/s12038-013-9298-7

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