M2/ANXA5 haplotype as a predisposition factor in Malay women and couples experiencing recurrent spontaneous abortion:...

Area of Science:

• Reproductive genetics
• Thrombophilia and pregnancy complications
• Population genetics in Malaysia

Background:

• Recurrent spontaneous abortion (RSA) is common in Malaysian Malays, with conventional thrombophilia factors largely excluded.
• The annexin A5 gene promoter M2 haplotype (M2/ANXA5) is prevalent in this population.
• Understanding genetic contributions to RSA is crucial for this demographic.

Purpose of the Study:

• To evaluate the association between the M2/ANXA5 haplotype and recurrent spontaneous abortion (RSA) in the Malay population.
• To determine the incidence of M2 carriage and its correlation with RSA risk.
• To investigate the role of M2/ANXA5 in couples experiencing unexplained RSA.

Main Methods:

• Case-control study involving 77 women with RSA and 41 male partners, compared to 360 healthy Malay controls.
• Genotyping for the M2/ANXA5 haplotype in all participants.
• Calculation of incidence, odds ratios, and risk evaluation between patient and control groups, including subgroups.

Main Results:

• M2/ANXA5 was found in 42.2% of the general Malay population.
• M2/ANXA5 carriage significantly increased the risk of primary and secondary RSA with early pregnancy loss (gestational weeks 5-15).
• Increased risk was observed in Malay couples where both partners were carriers, with a higher prevalence trend in male partners of RSA patients.

Conclusions:

• M2/ANXA5 is a significant risk factor for recurrent spontaneous abortion (RSA) with early pregnancy loss in Malay women.
• The high incidence of M2 carriage suggests a specific genetic predisposition in this population.
• The associated male partner risk supports M2/ANXA5's role as a genetic trait affecting embryonic anticoagulation.