Abstracts

Evaluation of M2/ANXA5 Haplotype as Repeated Spontaneous Abortions Risk Factor in the Malaysian Malay Population

OB 01 / Obstetrics

Kai-Cheen Ang, M.Sc.1, Sushilnathan Kathirgamanathan, M.D.2, Yan-Yeow Lee, M.D3, Anna-Liza Roslani, M.D.4, Bavanandan Naidu, M.D.5, Krishna Kumar, M.D.3, Ridzuan Abdullah, M.D.2, Siti-Nadiah Abdul Kadir, M.D.6, Narazah Mohd Yusoff, M.D., Ph.D.1, Wan Zaidah Abdullah, M.D.7, Nadja Bogdanova, M.D., Ph.D.8, Peter Wieacker, M.D.8, Arseni Markoff, Ph.D.8, Thean-Hock Tang, Ph.D.1
1Advanced Medical and Dental Institute, University Sains Malaysia, Bertam, Penang, Malaysia
2Department of Obstetrics and Gynaecology, Hospital Sultan Abdul Halim, Sungai Petani, Malaysia
3Department of Obstetrics and Gynaecology, Hospital Tuanku Ja’afar, Seremban, Malaysia
4Department of Obstetrics and Gynaecology, Hospital Tengku Ampuan Afzan, Kuantan, Malaysia
5Department of Obstetrics and Gynaecology, Hospital Sultanah Bahiyah, Alor Setar, Malaysia
6Department of Pathology, Hospital Sultan Abdul Halim, Sungai Petani, Malaysia
7Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kubang
Kerian, Malaysia
8Institute of Human Genetics, University of Muenster, Muenster, Germany

Repeated Spontaneous Abortions (RSA) is a major topic in reproductive medicine, affecting 1/20 pregnant woman worldwide. It has an adverse psychosocial impact in women and their families. The incidence of RSA is relatively high among the Malay population of Malaysia. Conventional hereditary thrombophilia factors have been generally ruled out. This study evaluated a new predisposition thrombophilia factor, M2/ANXA5 (RPRGL3). A total of 232 women who had experienced ≥ 2 unexplained RSA and 141 available male partners were recruited, with 360 healthy Malay and 166 parous female controls. The M2 carrier rate and RSA risks were determined in a) control and patient groups, b) clinically defined subgroups, and c) timing of pregnancy loss subgroups. Both male and female subjects had similar M2/ANXA5 allele frequencies. The carrier rate of M2/ANXA5 for the general Malay population was 42.2 % and 34.9 % for parous controls. These carrier rates compared to Malay RSA subjects resulted in an elevated RSA risk (OR = 1.53 and 1.97, respectively), specifically for early fetal losses (gestational weeks ≤ 15). Moreover, exceeding copy numbers of M2/ANXA5 alleles seemed to contribute a higher risk in RSA couples especially when both partners were M2 carriers. This study confirmed the proposed role of M2/ANXA5 as a genetically associated thrombophilia predisposition factor for RSA among ethnic Malay of Malaysia.